Retinose pigmentar (RP) é uma doença genética que afeta a retina, causando a perda gradual das células responsáveis pela visão e das células de suporte da retina, e que geralmente resulta em cegueira depois de muitas décadas.
Introdução
O que você precisa saber de cara
A retinite pigmentosa é um grupo de distúrbios oculares relacionados que causam perda de visão progressiva. Esses distúrbios afetam a retina, que é a camada de tecido sensível à luz na parte posterior do olho. Em pessoas com retinite pigmentosa, a perda de visão ocorre à medida que as células sensoriais de luz da retina se deterioram gradualmente.
O primeiro sinal de retinite pigmentosa costuma ser a perda da visão noturna, que se torna aparente na infância. Problemas com a visão noturna podem dificultar a locomoção em ambientes com pouca luz. Mais tarde, a doença faz com que pontos cegos se desenvolvam na visão lateral (periférica). Com o tempo, esses pontos cegos se unem, produzindo visão em túnel. A doença progride ao longo de anos ou décadas, afetando a visão central, que é necessária para tarefas detalhadas como leitura, condução de veículos e reconhecimento de rostos. Na idade adulta, muitas pessoas com retinite pigmentosa tornam‑se legalmente cegas.
Os sinais e sintomas da retinite pigmentosa geralmente se limitam à perda de visão. Quando o distúrbio ocorre isoladamente, ele é descrito como não sindrômico. Pesquisadores identificaram vários tipos principais de retinite pigmentosa não sindrômica, que normalmente são diferenciados pelo padrão de herança: autossômico dominante, autossômico recessivo ou ligado ao X.
Com menos frequência, a retinite pigmentosa ocorre como parte de síndromes que afetam outros órgãos e tecidos do corpo. Essas formas da doença são descritas como sindrômicas. A forma mais comum de retinite pigmentosa sindrômica é a síndrome de Usher, que se caracteriza pela combinação de perda de visão e perda auditiva que começam cedo na vida. A retinite pigmentosa também é uma característica de várias outras síndromes genéticas, incluindo a síndrome de Bardet‑Biedl; a doença de Refsum; e neuropatia, ataxia e retinite pigmentosa (NARP).
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoRetinose pigmentar (RP) é uma doença genética que afeta a retina, causando a perda gradual das células responsáveis pela visão e das células de suporte da retina, e que geralmente resulta em cegueira depois de muitas décadas.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 41 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 144 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
92 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, X-linked recessive.
Curadoria gene-doença
fontes oficiaisJoubert syndrome 3
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease. Joubert syndrome type 3 shows minimal extra central nervous system involvement and appears not to be associated with renal dysfunction.
Leber congenital amaurosis 4
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Anemia, congenital, non-spherocytic hemolytic, 5
An autosomal recessive disorder characterized by hemolytic anemia as the predominant clinical feature, and decreased red cell hexokinase activity.
Retinitis pigmentosa 92
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP92 is an autosomal recessive, mild form with onset of night blindness and vision loss in the third to sixth decades of life.
Macular degeneration, age-related, 6
A form of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible yellowish accumulations of protein and lipid that lie beneath the retinal pigment epithelium and within an elastin-containing structure known as Bruch membrane.
Leber congenital amaurosis 7
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Perching syndrome
An autosomal recessive multisystem disorder characterized by global developmental delay, dysmorphic facial features, feeding and respiratory difficulties with poor overall growth, axial hypotonia, and joint contractures. The features are variable, even within families, and may also include retinitis pigmentosa, cardiac or genitourinary anomalies, and abnormal sweating.
Retinitis pigmentosa 11
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Joubert syndrome 35
A form of Joubert syndrome, a disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy, renal disease, liver fibrosis, and polydactyly. JBTS35 inheritance is autosomal recessive.
Retinitis pigmentosa 31
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 14
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Skin creases, congenital symmetric circumferential, 2
An autosomal dominant disease characterized by multiple, symmetric, circumferential rings of folded skin, affecting primarily the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features.
Retinitis pigmentosa 90
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. RP90 is an autosomal recessive form.
Retinitis pigmentosa 57
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Leber congenital amaurosis 3
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Muscular dystrophy-dystroglycanopathy congenital with brain and eye anomalies A3
An autosomal recessive disorder characterized by congenital muscular dystrophy, ocular abnormalities, cobblestone lissencephaly, and cerebellar and pontine hypoplasia. Patients present severe congenital myopia, congenital glaucoma, pallor of the optic disks, retinal hypoplasia, intellectual disability, hydrocephalus, abnormal electroencephalograms, generalized muscle weakness and myoclonic jerks. Included diseases are the more severe Walker-Warburg syndrome and the slightly less severe muscle-eye-brain disease.
Vitreoretinopathy, exudative 6
An autosomal dominant form of exudative vitreoretinopathy, a form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
Retinitis pigmentosa 41
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Cone-rod dystrophy 16
An inherited retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Retinitis pigmentosa 46
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Leber congenital amaurosis 2
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Retinitis pigmentosa 48
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Joubert syndrome 2
A disorder presenting with cerebellar ataxia, oculomotor apraxia, hypotonia, neonatal breathing abnormalities and psychomotor delay. Neuroradiologically, it is characterized by cerebellar vermian hypoplasia/aplasia, thickened and reoriented superior cerebellar peduncles, and an abnormally large interpeduncular fossa, giving the appearance of a molar tooth on transaxial slices (molar tooth sign). Additional variable features include retinal dystrophy and renal disease.
Retinitis pigmentosa 68
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 45
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 9
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 36
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Short-rib thoracic dysplasia 9 with or without polydactyly
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome. SRTD9 is characterized by phalangeal cone-shaped epiphyses, chronic renal disease, nearly constant retinal dystrophy, and mild radiographic abnormality of the proximal femur. Occasional features include short stature, cerebellar ataxia, and hepatic fibrosis.
Retinitis pigmentosa 77
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP77 inheritance is autosomal recessive.
Retinitis pigmentosa 18
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Meckel syndrome 6
A disorder characterized by a combination of renal cysts and variably associated features including developmental anomalies of the central nervous system (typically encephalocele), hepatic ductal dysplasia and cysts, and polydactyly.
Retinitis pigmentosa 60
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 4
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Bothnia retinal dystrophy
A type of retinitis punctata albescens. Affected individuals show night blindness from early childhood with features consistent with retinitis punctata albescens and macular degeneration.
Night blindness, congenital stationary, Oguchi type 1
A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. Congenital stationary night blindness Oguchi type is an autosomal recessive form associated with fundus discoloration and abnormally slow dark adaptation.
Retinitis pigmentosa 75
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP75 inheritance is autosomal recessive.
Retinitis pigmentosa 3
An X-linked retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. In RP3, affected males have a severe phenotype, and carrier females show a wide spectrum of clinical features ranging from completely asymptomatic to severe retinitis pigmentosa. Heterozygous women can manifest a form of choroidoretinal degeneration which is distinguished from other types by the absence of visual defects in the presence of a brilliant, scintillating, golden-hued, patchy appearance most striking around the macula, called a tapetal-like retinal reflex.
Retinitis pigmentosa 86
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP86 is an autosomal recessive form.
Leber congenital amaurosis 14
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Short-rib thoracic dysplasia 10 with or without polydactyly
A form of short-rib thoracic dysplasia, a group of autosomal recessive ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. Polydactyly is variably present. Non-skeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of the disease are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life. Disease spectrum encompasses Ellis-van Creveld syndrome, asphyxiating thoracic dystrophy (Jeune syndrome), Mainzer-Saldino syndrome, and short rib-polydactyly syndrome.
Stargardt disease 1
An autosomal recessive form of Stargardt disease, a retinal degenerative disease characterized by macular dystrophy, progressive bilateral atrophy of the foveal retinal pigment epithelium, and accumulation of fluorescent flecks around the macula and/or in the central and near-peripheral areas of the retina. STGD1 patients typically lose central vision in their first or second decade of life.
Retinitis pigmentosa 13
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 82 with or without situs inversus
An autosomal recessive disorder characterized by variable association of retinitis pigmentosa with situs inversus. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Situs inversus is a congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions due to lateral transposition.
Retinitis pigmentosa 67
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 56
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Enhanced S cone syndrome
Autosomal recessive retinopathy in which patients have increased sensitivity to blue light; perception of blue light is mediated by what is normally the least populous cone photoreceptor subtype, the S (short wavelength, blue) cones. ESCS is also associated with visual loss, with night blindness occurring from early in life, varying degrees of L (long, red)- and M (middle, green)-cone vision, and retinal degeneration.
Retinitis pigmentosa 28
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 49
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 70
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 17
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Macular dystrophy, vitelliform, 2
An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.
Retinitis pigmentosa 2
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 84
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP84 is an autosomal recessive, early onset form characterized by night blindness by age 4 and complete blindness by age 8. Funduscopy shows severely attenuated retinal vessels, severe macular atrophy, and prominent and deep macular colobomas lacking neuroretinal tissue.
Leber congenital amaurosis 13
A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus.
Bardet-Biedl syndrome 3
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Retinitis pigmentosa 35
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 10
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Cone-rod dystrophy 15
An autosomal recessive retinal dystrophy characterized by retinal pigment deposits visible on fundus examination, predominantly in the macular region, and initial loss of cone photoreceptors followed by rod degeneration. This leads to decreased visual acuity and sensitivity in the central visual field, followed by loss of peripheral vision. Severe loss of vision occurs earlier than in retinitis pigmentosa, due to cone photoreceptors degenerating at a higher rate than rod photoreceptors.
Retinitis pigmentosa 58
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Bardet-Biedl syndrome 2
A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and intellectual disability. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.
Retinitis pigmentosa 38
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Occult macular dystrophy
An inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. It is typically characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and multifocal ERGs are significantly reduced at the central retina.
Macular dystrophy, vitelliform, 4
A form of macular dystrophy, a retinal disease in which various forms of deposits, pigmentary changes, and atrophic lesions are observed in the macula lutea. Vitelliform macular dystrophies are characterized by yellow, lipofuscin-containing deposits, usually localized at the center of the macula. VMD4 features include late-onset moderate visual impairment, small satellite drusen-like lesions in the foveal area, and preservation of retinal pigment epithelium reflectivity.
Intellectual developmental disorder and retinitis pigmentosa
An autosomal recessive disease characterized by mild to moderate intellectual disability, retinitis pigmentosa, and attention deficit-hyperactivity disorder observed in some patients.
Retinitis pigmentosa 25
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 26
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 78
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP78 inheritance is autosomal recessive.
Retinitis pigmentosa 62
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Nephrotic syndrome 9
A form of nephrotic syndrome, a renal disease clinically characterized by progressive renal failure, severe proteinuria, hypoalbuminemia, hyperlipidemia and edema. Kidney biopsies show focal segmental glomerulosclerosis.
Retinitis pigmentosa 33
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 51
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinal dystrophy and obesity
A disease characterized by obesity, night blindness, decreased visual acuity, and electrophysiological features of a rod cone dystrophy.
Retinitis pigmentosa 30
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Mucopolysaccharidosis 3C
A form of mucopolysaccharidosis type 3, an autosomal recessive lysosomal storage disease due to impaired degradation of heparan sulfate. MPS3 is characterized by severe central nervous system degeneration, but only mild somatic disease. Onset of clinical features usually occurs between 2 and 6 years; severe neurologic degeneration occurs in most patients between 6 and 10 years of age, and death occurs typically during the second or third decade of life.
Retinitis pigmentosa 7
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 27
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 7
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 69
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Usher syndrome 3A
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH3 is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life.
Cranioectodermal dysplasia 3
A disorder primarily characterized by craniofacial, skeletal and ectodermal abnormalities. Clinical features include craniosynostosis, narrow rib cage, short limbs, brachydactyly, hypoplastic and widely spaced teeth, sparse hair, skin laxity and abnormal nails. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described.
Retinitis pigmentosa 85
A form of retinitis pigmentosa, a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. RP85 is an autosomal recessive form manifesting as early-onset progressive difficulty to adapt in dim light and gradually decreasing visual acuity in both eyes.
Retinitis pigmentosa 43
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 59
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Retinitis pigmentosa 54
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Usher syndrome 2A
USH is a genetically heterogeneous condition characterized by the association of retinitis pigmentosa with sensorineural deafness. Age at onset and differences in auditory and vestibular function distinguish Usher syndrome type 1 (USH1), Usher syndrome type 2 (USH2) and Usher syndrome type 3 (USH3). USH2 is characterized by congenital mild hearing impairment with normal vestibular responses.
Retinitis pigmentosa 40
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Orofaciodigital syndrome 1
A form of orofaciodigital syndrome, a group of heterogeneous disorders characterized by abnormalities in the oral cavity, face, and digits and associated phenotypic abnormalities that lead to the delineation of various subtypes. OFD1 is X-linked dominant syndrome, lethal in males. Craniofacial findings consist of facial asymmetry, hypertelorism, median cleft, or pseudocleft of the upper lip, hypoplasia of the alae nasi, oral clefts and abnormal frenulea, tongue anomalies (clefting, cysts, hamartoma), and anomalous dentition involving missing or extra teeth. Asymmetric brachydactyly and/or syndactyly of the fingers and toes occur frequently. Approximately 50% of OFD1 females have some degree of intellectual disability. Some patients have structural central nervous system anomalies such as agenesis of the corpus callosum, cerebellar agenesis, or a Dandy-Walker malformation. Patients with OFD1 can develop fibrocystic disease of the liver and pancreas, in addition to polycystic kidneys.
Retinitis pigmentosa 66
A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well.
Medicamentos e terapias
Mecanismo: Succinate semialdehyde dehydrogenase inhibitor
Mecanismo: DOPA decarboxylase inhibitor
Mecanismo: Dihydrofolate reductase inhibitor
Mecanismo: Dopamine D3 receptor agonist
Mecanismo: DOPA decarboxylase inhibitor
Mecanismo: Toll-like receptor 7 antagonist
Mecanismo: Adrenergic receptor alpha-2 agonist
Variantes genéticas (ClinVar)
548 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 18.405 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
102 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Retinite pigmentosa
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Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 5.467
Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement.
Este estudo identificou uma nova variante genética, localizada profundamente numa região não-codificante (intrônica) do gene IMPG2, como causa de Retinose Pigmentar (RP) com envolvimento macular. Essa variante provoca um erro no processamento genético, resultando na ativação de um "pseudoéxon" e na consequente falha na produção da proteína funcional. Para pacientes e médicos, esta descoberta é crucial porque expande o espectro de causas genéticas da RP, justificando a busca por essas variantes "ocultas" em casos sem diagnóstico e sublinhando a importância de testes funcionais para confirmar sua patogenicidade.
🇧🇷 traduzidoEstablishment of CSUASOi014-A, an induced pluripotent stem cell line from blood-derived cells of a Chinese patient carrying PRPF31 gene mutation.
Um estudo recente conseguiu gerar uma linhagem de células-tronco pluripotentes induzidas (iPSCs) a partir de células sanguíneas de uma paciente chinesa com Retinose Pigmentar (RP) e uma mutação específica no gene PRPF31. Essa linhagem de iPSCs, por ser específica da paciente, oferece uma ferramenta valiosa para compreender os mecanismos exatos da doença e acelerar a busca por tratamentos mais eficazes e personalizados para a RP associada ao PRPF31.
🇧🇷 traduzidoTargeted Ferroptosis Improves RPE Phagocytosis via MERTK/NFE2L2/HMOX1 Axis to Alleviate Retinitis Pigmentosa.
A Retinose Pigmentar (RP), uma doença ocular que causa perda progressiva da visão e sem terapias eficazes atuais, foi ligada à ferroptose – um tipo de morte celular – como um motor crítico da disfunção das células do epitélio pigmentar da retina (RPE), especialmente na forma deficiente em MERTK. O estudo demonstrou que a inibição da ferroptose restaurou a função fagocítica das células RPE em modelos pré-clínicos, sugerindo que mirar na ferroptose pode ser uma promissora estratégia terapêutica para pacientes com RP deficiente em MERTK.
🇧🇷 traduzidoA Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.
Este estudo identificou uma nova variante no gene ARL3 como causa de Retinose Pigmentar (RP) não sindrômica. O ponto mais relevante para pacientes e médicos é a **grande variabilidade clínica**: indivíduos da mesma família com a variante podem apresentar desde atrofia retiniana severa até a ausência total de sintomas, independentemente da idade. Isso ressalta a importância de combinar testes genéticos com validação funcional para um diagnóstico preciso e um melhor aconselhamento, já que a presença da mutação não garante a manifestação ou a gravidade da doença.
🇧🇷 traduzidoFormyl peptide receptors as therapeutic targets in eye disease.
Os receptores de peptídeos formilados (FPRs) são agora reconhecidos como importantes reguladores da saúde ocular, com capacidade de tanto agravar quanto promover a recuperação em doenças como a Retinopatia Pigmentosa. Para pacientes e médicos, isso aponta para uma nova e promissora via terapêutica. O objetivo é modular seletivamente esses FPRs para direcionar sua ação para o reparo e tratamento da doença, oferecendo esperança para intervenções futuras.
🇧🇷 traduzidoPublicações recentes
Elevating Jak-STAT signaling via SOCS3 deletion sustains photoreceptor viability and visual function in mouse models of retinitis pigmentosa.
A novel CEP78 variant and rod-cone dystrophy in non-consanguineous siblings.
RNA interference to reduce Egr1 expression in rods delays retinal degeneration in a model of retinitis pigmentosa.
🥇 Ensaio randomizadoIntravitreal photoswitch therapy in advanced retinitis pigmentosa: a phase 1 open-label trial.
Persistent Bilateral Optic Disc Swelling in Non-Syndromic Retinitis Pigmentosa: A Case Report.
📚 EuropePMC5.506 artigos no totalmostrando 200
Functional Validation of a Novel Deep Intronic IMPG2 Variant Causing Pseudoexon Activation in Retinitis Pigmentosa with Macular Involvement.
The application of clinical geneticsConformational signatures of native ligand and pharmacochaperone binding in rhodopsin.
bioRxiv : the preprint server for biologyCrop-OCT: a Fully Integrated Imageomics Pipeline to Identify Regional and Focal Retinopathy in Murine Models.
bioRxiv : the preprint server for biologyGenetic and clinical characterization of suspected retinitis pigmentosa in a cohort of Brazilian patients.
Molecular visionThe genotype-phenotype association of retinitis pigmentosa in a Chinese population: Analysis of three new cases and literature review.
Molecular visionRetinal gene therapies for inherited ocular diseases: Translational delivery strategies from bench to bedside.
Journal of controlled release : official journal of the Controlled Release SocietyEstablishment of CSUASOi014-A, an induced pluripotent stem cell line from blood-derived cells of a Chinese patient carrying PRPF31 gene mutation.
Stem cell researchNutritional supplements: current evidence for retinitis pigmentosa and Stargardt disease.
Current opinion in ophthalmologyMapping the intellectual landscape and emerging trends of retinitis pigmentosa research.
Frontiers in medicineMeckel-Gruber syndrome: a rare and fatal congenital disorder (case report).
The Pan African medical journalElectroretinographic patterns of retinitis pigmentosa in a Palestinian cohort: a clinical and functional characterization.
BMC ophthalmologyPublisher Correction: X-Linked Retinitis Pigmentosa (XLRP): An Investigation of the Impact of XLRP on Health-Related Quality of Life of Carers in Great Britain.
Advances in therapyTargeted Ferroptosis Improves RPE Phagocytosis via MERTK/NFE2L2/HMOX1 Axis to Alleviate Retinitis Pigmentosa.
Investigative ophthalmology & visual science[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 2. Clinical, social and demographic characteristics of inherited retinal pathologies].
Vestnik oftalmologii[Results of the multicenter study "Registry of patients with inherited retinal dystrophies caused by confirmed biallelic mutations in the RPE65 and RLBP1 genes in Russia (REGINA)". Report 1. Molecular genetic characteristics of inherited retinal pathologies].
Vestnik oftalmologiiNew insights into Oliver-McFarlane syndrome: adrenocortical hypofunction and variable expressivity in a Chinese sibling pair.
Journal of pediatric endocrinology & metabolism : JPEMA heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.
Ophthalmic geneticsSocioeconomic impact assessment of low vision and blindness on patients and households in Thailand.
Clinical & experimental optometryA Novel Heterozygous ARL3 Variant in Non-Syndromic Retinitis Pigmentosa: Clinical and Functional Characterization.
International journal of molecular sciencesLiving with Retinitis Pigmentosa in Türkiye: Diagnosis, Independence, and Access to Care.
Healthcare (Basel, Switzerland)Systemic and Ocular Manifestations of a Ciliopathy: A Case Report of Renal-Retinal Involvement in Senior-Loken Syndrome.
Journal of clinical medicineValidation of a novel multi-luminance shape discrimination test for assessment of functional vision.
Documenta ophthalmologica. Advances in ophthalmologyFormyl peptide receptors as therapeutic targets in eye disease.
Trends in pharmacological sciencesExpanding the Clinical Spectrum of Bardet-Biedl Syndrome: Chronic Liver Disease in an Adult Patient.
CureusAAV-mediated gene replacement therapy for LRAT-associated retinitis pigmentosa: a proof-of-concept study in a patient-based rat model.
Gene therapyThe EH Binding protein EHBP1 operates in a ciliary functional module affected by INPP5E dysfunction.
Journal of cell scienceCompound heterozygous mutations in the USH2A gene causing non-syndromic retinitis pigmentosa.
Ophthalmic geneticsInfluence of the design parameters of floor-level guidance lights under a restricted field of view.
Disability and rehabilitation. Assistive technologyEnhancing Experience-Dependent Plasticity Accelerates Vision Loss in a Murine Model of Retinitis Pigmentosa.
Investigative ophthalmology & visual scienceDynamic transcriptomic remodeling in grafted human neural progenitor cells uncovers mechanisms for vision preservation in a rat model of retinitis pigmentosa.
Nature communications[Remodeling of the internal retina-Implications for targeted optogenetics].
Die OphthalmologieA Rare RHO Variant and Its Phenotypic Spectrum in a Portuguese Family with Retinitis Pigmentosa: A Case Series.
Case reports in ophthalmologyTwo novel genetic associations with sector retinitis pigmentosa: USH2A and PRPF31.
Ophthalmic geneticsApplication of smooth OWA operators to classification of retinitis pigmentosa.
Scientific reportsMultimodal imaging of retinitis pigmentosa associated with optic disc astrocytic hamartoma in one eye and optic disc drusen in the fellow eye: Case report and review of the literature.
Journal francais d'ophtalmologie[Vitreous cysts in retinitis pigmentosa : A clinicopathological correlation].
Die OphthalmologiePhagocytosis by retinal pigment epithelium and microglia does not affect vision restoration by P3HT nanoparticles in Retinitis pigmentosa.
Cell death & diseaseG-protein activation of the dark-state conformation of the visual G protein-coupled receptor rhodopsin by releasing critical structural constraints.
Communications biologyRGR-mediated photopic visual cycle and oxidative stress: potential mechanisms for cone vision impairment and retinal degeneration in retinitis pigmentosa linked to D1080N-IRBP.
The Journal of neuroscience : the official journal of the Society for NeuroscienceSocial and subjective representations of visual impairment in Italy: a qualitative study.
BMJ paediatrics openEfficacy and Safety of Gene Therapy for RPGR Gene-Associated X-Linked Retinitis Pigmentosa: A Systematic Review and Meta-Analysis.
Translational vision science & technologyCombined Expression of hRdCVF and hRdCVFL Through AAV-Mediated Delivery for the Treatment of Retinitis Pigmentosa.
Investigative ophthalmology & visual scienceVisible light optical coherence tomography for assessing retinal structure and function in diseased mouse models.
Biomedical optics expressA Case of Knobloch Syndrome With Lens Dislocation Resembling Homocystinuria.
Clinical case reportsGeneration of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.
Stem cell researchAdvanced therapeutic approaches for inherited retinal diseases: an umbrella review.
BMJ openDecline of Visual Function and Risk of Legal Blindness With Age in RPGR-Associated Retinal Degeneration: A Multicenter Study.
Clinical & experimental ophthalmologyNonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
International journal of molecular sciencesFunctional and Structural Analysis of the Central Retina According to the Fundus Autofluorescence Pattern in Patients with Retinitis Pigmentosa.
Diagnostics (Basel, Switzerland)Levodopa in retinal disease: Dopamine pathways, neuroprotective mechanisms, and clinical evidence.
Survey of ophthalmologyPathology of the Human Temporal Bone in a Rare Case of Combined Usher Syndrome and Cystic Fibrosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyThe Role of Autophagy-Lysosomal Pathways in Photoreceptor Death in the rd10 Mouse Model of Inherited Retinal Degeneration.
CellsVisualization analysis of the use of traditional Chinese medicine in the diagnosis and treatment of rare diseases in mainland China based on CiteSpace.
Intractable & rare diseases researchLoss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy.
American journal of human geneticsRecent Progress in Selenium Nanomedicines for Ocular Diseases.
International journal of nanomedicineAltered anterior segment biometrics in cataract patients with retinitis pigmentosa: a propensity-matched analysis suggests patterns of zonular weakness.
PeerJPRPF8-associated retinitis pigmentosa variant induces human neural retina-autonomous photoreceptor defects.
Scientific reportsStreamlining the diagnostic and management pathways of patients with retinitis pigmentosa.
Ophthalmic geneticsFrom Sound to Stability: Lessons Learned From the CRUSH Study on Hearing Loss Progression and Vestibular Phenotype in Usher Syndrome Type 2A.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyOutcomes of phaco-goniosynechialysis surgery for refractory acute primary angle-closure glaucoma after trabeculectomy complicated by low corneal endothelial cell density.
International ophthalmologyCDHR1 variants in a Japanese family with inherited retinal dystrophy and intrafamilial phenotypic variability.
Frontiers in ophthalmologyMental health outcomes in patients with inherited retinal diseases: a systematic review and meta-analysis.
International journal of retina and vitreousBi-allelic variants in FSD1L cause retinitis pigmentosa with or without neurological involvement.
American journal of human geneticsPerimetry of the Central Visual Field Using a Head-Mounted Open-Source Perimeter in Patients with Inherited Retinal Diseases.
Vision (Basel, Switzerland)Visual Field Estimation in X-Linked Retinitis Pigmentosa Associated with Retinitis Pigmentosa GTPase Regulator (RPGR) from Image Analysis Using Artificial Intelligence.
Ophthalmology scienceExpanding the clinical and genetic spectrum of RHO-associated retinitis pigmentosa.
Experimental biology and medicine (Maywood, N.J.)A Tripartite AAV System with Engineered Lox Sites Enables Efficient Delivery of the EYS Gene for Retinal Gene Therapy.
Human gene therapyEstablishment of a human induced pluripotent stem cell line (BTHBIOi005-A) from a retinitis pigmentosa patient with a MERTK gene mutation.
Stem cell researchCDH23-associated Usher syndrome: genotype-phenotype correlations.
Ophthalmic geneticsUnveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation.
Cell death & disease[Optogenetic reactivation of dormant cone photoreceptors].
Die OphthalmologieValuing Maintenance of Visual Function in Retinitis Pigmentosa: A Discrete Choice Experiment with Patients and the General Public.
PharmacoEconomics - openDisease progression in IMPDH1 gene-associated rod-cone dystrophy caused by a rare p.Thr244Pro heterozygous variant.
Documenta ophthalmologica. Advances in ophthalmologyTemporal modulation of microglial repopulation attenuates retinal degeneration in retinitis pigmentosa.
Neurobiology of diseaseNovel explant model for human retinal progenitor cell transplantation.
Biochemical and biophysical research communicationsAldehyde reductase as potential measurement for retinitis pigmentosa: A two-sample Mendelian randomization (MR) study.
MedicineX-Linked Retinitis Pigmentosa (XLRP): An Investigation of the Impact of XLRP on Health-Related Quality of Life of Carers in Great Britain.
Advances in therapyRPGRorf15 nanopore long-read sequencing improves retinitis pigmentosa molecular diagnosis for men and women.
Human geneticsTargeted RNA Degradation by RIBOTACs: A Novel Therapeutic Avenue for Ophthalmic Diseases.
International journal of molecular sciencesGeneration and characterization of iPSC lines (SPPHIi005-A, SPPHIi006-A, SPPHIi007-A) from a CRB1-mutation associated retinitis pigmentosa family.
Stem cell researchIncreased Gut Microbiota Diversity in Patients With Retinitis Pigmentosa and Implications for Disease Phenotypes and Progression.
Investigative ophthalmology & visual scienceTubulin hyperglutamylation causes retinal degeneration by impairing the structural integrity of cilia and protein mistrafficking.
Zoological researchTranscorneal electrical stimulation for the treatment of visual field defects in patients with open-angle glaucoma: a monocentric, randomised, double-masked, sham-controlled pilot study: the TES-GPS study protocol.
BMJ openA gel-forming antioxidant eye drop for photoreceptor protection in retinitis pigmentosa.
Drug delivery and translational researchAssessing Agreement between Blue-Light and Green-Light Autofluorescence of Macular Hyperautofluorescent Rings in Inherited Retinal Diseases.
Ophthalmology scienceAAV NRF2 gene therapy preserves retinal structure and function in rodent models of oxidative damage.
Molecular therapy : the journal of the American Society of Gene TherapyInhibition of galanin receptor 3 slows down retina degeneration in retinitis pigmentosa through modulation of inflammatory and oxidative stress response.
Scientific reportsCrosstalk Between R-Loops, RNA/DNA Modifications, and Cell Death Dynamics in Canine Models of Retinitis Pigmentosa.
Investigative ophthalmology & visual sciencePoly(ADP-ribose) polymerase regulates transient receptor potential channel M2-dependent calpain activation in rd1 mouse retinal degeneration.
Neural regeneration researchCorrigendum to "Generation of three human induced pluripotent stem cell lines from retinitis pigmentosa 25 patient and two carriers but asymptomatic daughters". [Stem. Cell Res. 82 (2025) 103645].
Stem cell researchNon-Neoplastic Disorders Mimicking Anterior Uveitis.
Ocular immunology and inflammationCorrelations between Spectral Domain Optical Coherence Tomography Measurements and Visual Acuity in Patients with Retinitis Pigmentosa at Baseline and One-Year Follow-Up.
Ophthalmic researchIdentification and validation of a novel ferroptosis-related gene signature associated with inherited retinal degeneration in Rd10 mice.
Scientific reportsPathogenicity and Functional Analysis of Multi-Variant Allele of RPE65 Causing Retinitis Pigmentosa.
Translational vision science & technologyNovel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.
Ophthalmology sciencePhotonic biosensing and optogenetic technologies: Emerging therapeutic strategies in neurodegenerative diseases.
Neural regeneration researchOcular delivery of different valosin-containing protein (VCP) inhibitory formulations prevents retinal degeneration in rho∆I255 mice.
Journal of controlled release : official journal of the Controlled Release SocietyBrain-computer interface commercialization.
Journal of neuroengineering and rehabilitationUltra-high resolution OCT imaging reveals retinal layer degeneration in RD10 mice with comparison to commercial standard resolution OCT.
Scientific reportsFemale sex is a risk factor for exacerbated lipid peroxidation and disease in murine retinitis pigmentosa.
Redox biologyOvercoming size barriers in retinal gene therapy via lipid nanoparticle-mediated delivery of full-length eys DNA.
Drug delivery and translational research[Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].
Die OphthalmologieTargeting AKT via SC79 for Photoreceptor Preservation in Retinitis Pigmentosa Mouse Models.
BiomedicinesSingle-Cell Transcriptomics on PRPF31-Mutated Retinal Organoids Reveal Early Müller Glial Activation and Progressive Photoreceptor Degeneration.
BiomedicinesNasal Retinal Degeneration Is a Feature of a Subset of CRX-Associated Retinopathies.
GenesRNA Sequencing and Targeted Knockdown Reveal miR-142a-5p as a Driver of Retinal Degeneration in rd1 Mice.
BiologyA Spectrum of Severity of a Unifying Retinal Phenotype in TUBB4B-Associated Inherited Retinal Degeneration.
Retinal cases & brief reportsA Novel N-Terminal PRPF6 Variant in Autosomal Dominant Retinitis Pigmentosa.
Clinical case reportsA novel EYS c.6192-1G>A variant presents ideal base editing therapeutic opportunities.
Ophthalmic geneticsContent Validity of Two Generic Preference-Based Measures in Retinitis Pigmentosa, Including X-Linked Retinitis Pigmentosa.
PharmacoEconomics - openCompensatory Interplay Between Clarin-1 and Clarin-2 Deafness-Associated Proteins Governs Phenotypic Variability in Hearing.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Modulation of Aerobic Glycolysis Genes During the Progression of Retinitis Pigmentosa.
Investigative ophthalmology & visual sciencePrevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.
Frontiers in ophthalmologyClinical Characteristics and Genetic Factors in Retinitis Pigmentosa: A Retrospective Analysis of a Turkish Patient Cohort.
Medical sciences (Basel, Switzerland)Early Rod Dysfunction Influences Cone Development in a Rhodopsin P23H Mouse Model of Retinitis Pigmentosa.
Pathophysiology : the official journal of the International Society for PathophysiologyRetained cone-responses in homozygous start codon variant in KIZ-associated retinitis pigmentosa.
Documenta ophthalmologica. Advances in ophthalmologyRetinitis pigmentosa and sensorineural deafness associated with a de novo DHX16 mutation: case report.
Frontiers in geneticsClinical and genetic characterization of REEP6-associated retinopathy in a Japanese cohort.
Japanese journal of ophthalmologyAnatomy- versus Sensitivity-Based Loci Preselection in Detecting USH2A-Retinopathy Microperimetric Progression.
Ophthalmology scienceRetinal Degeneration and Visual Outcomes in Patients With Bardet-Biedl Syndrome: Genotypic Influences From a Caribbean Cohort.
CureusPatient perspectives on clinical environment accessibility: a qualitative study in severe vision loss.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieTargeting the CCL7-STAT1 axis attenuates microglial neurotoxicity and photoreceptor degeneration in retinitis pigmentosa.
Journal of neuroinflammationCorrigendum to 'Restored phagocytic ability of RPE patches derived from gene-corrected retinitis pigmentosa-hiPSCs on a biodegradable scaffold via clinical-grade protocol: Implications for autologous therapy' [Genes Dis (12) (2025) 101609].
Genes & diseasesGenotypic and phenotypic landscape of novel RPGR variants in patients from Western Canada.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieReclassification of a novel NR2E3 variant as likely pathogenic: a case report of autosomal recessive RP37 in siblings.
Ophthalmic geneticsKey optogenetic advances in retinal prostheses: A comparative narrative review.
Brain researchCalpain-1 C2L domain peptide protects retinal photoreceptor cells in rhodopsin P347L transgenic rabbits.
Experimental eye researchGeneration of an induced pluripotent stem cell (iPSC) line (IPSCi001-A), from a 40-year-old female patient with occult macular dystrophy carrying the c.133C > T mutation in the RP1L1 gene.
Stem cell researchDynamic Inner Blood Retina Barrier Disruption in Retinitis Pigmentosa.
Investigative ophthalmology & visual sciencePRPF8 Mutation-Induced Defects in Human iPSC-Derived RPE Are Rescued by Adenine Base Editing.
Investigative ophthalmology & visual scienceExploring extracellular vesicle MicroRNAs in Usher syndrome type 1B: Tear-Derived EVs as potential indicators of retinal health.
Cellular and molecular life sciences : CMLSCorrigendum: Optical coherence tomography angiography characteristics of microvascular retinal alterations and the relationship with visual impairment in different patterns of retinitis pigmentosa.
Taiwan journal of ophthalmologyCorrigendum: Metabolic rescue of cone photoreceptors in retinitis pigmentosa.
Taiwan journal of ophthalmologyCRISPR-Cas9-Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel-Gruber Syndrome Phenotype.
Genesis (New York, N.Y. : 2000)Early Detection of Cystoid Macular Edema in Retinitis Pigmentosa Using Longitudinal Deep Learning Analysis of OCT Scans.
Diagnostics (Basel, Switzerland)Safety and neuroprotective efficacy of the VCP inhibitor ML240 in large-animal and human retinal explants: a preclinical ex vivo study.
BMC medicineInherited retinal disorders in Scotland: A 5 year assessment.
Eye (London, England)De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa.
Nature geneticsProtection of GAP-43 gene-modified bone marrow mesenchymal stem cells on retinitis pigmentosa.
Journal of translational medicineLeveraging large scale deep learning models for diagnosis and visual outcome prediction in retinitis pigmentosa.
NPJ digital medicineResearch progress on glycolytic reprogramming in ophthalmic diseases.
PeerJHigh-altitude retinopathy with isolated ellipsoid zone loss: a case report.
Documenta ophthalmologica. Advances in ophthalmologyEarly Onset Inherited Retinal Diseases: Characterizing Clinical Manifestations and Common Involved Genes.
Retina (Philadelphia, Pa.)A unique case of microspherophakia in adult Refsum disease.
American journal of ophthalmology case reportsComprehensive transcriptomic analysis reveals canonical and novel pathways modulated by nanoceria in mammalian retinal degeneration.
Scientific reportsNew Insights into Imaging Patterns of Autoimmune Retinopathies: A Cluster-Based Update.
American journal of ophthalmologyAdvances in RPGR gene therapy for X‑linked retinitis pigmentosa: From preclinical insights to clinical application (Review).
International journal of molecular medicineNovel developments in retinal regeneration: Advances and future outlooks in stem cell therapy.
World journal of stem cellsEfficient derivation of hiPSC-derived photoreceptor precursor cells and their neuroprotective effects in retinal degeneration.
iScienceIntegrating Human Expertise With Artificial Intelligence (AI) Models for Optical Coherence Tomography (OCT) Retinal Fluid and Pathology Quantification: A Systematic Review.
CureusExpanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.
GenesExploring the Genetic Causes of Nonsyndromic Retinal Dystrophies in Qatar.
GenesMechanisms and Functions of Chromophore Regeneration in the Classical Visual Cycle: Implications for Retinal Disease Pathogenesis and Therapy.
BiomoleculesExome sequencing identifies novel genetic variants in patients with atypical Non-Syndromic retinitis pigmentosa.
Molecular biology reportsAtypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous ABCA4 Variants: A Case Report and Diagnostic Challenge.
Clinical case reportsAge-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.
Annals of laboratory medicineThe Effect of Tinted Filters on the Visual Function of Patients with Retinitis Pigmentosa.
Journal of ophthalmic & vision researchNatural History of CNGA1-Associated Retinitis Pigmentosa in a Large Chinese Cohort Revealing an Optimal Intervention Window.
American journal of ophthalmologyDetection of cystoid macular edema in patients with retinitis pigmentosa based on deep learning.
International journal of retina and vitreousHybrid optogenetic and electrical stimulation of retinal ganglion cells for artificial vision.
Brain stimulationEstrogen receptor 1 activation suppresses microglia-derived Tnf-α signaling as a photoreceptor self-protection mechanism.
Journal of neuroinflammationCapsular Tension Ring Implantation Improves Intraocular Lens Power Prediction Accuracy in Cataract with Retinitis Pigmentosa.
Ophthalmology and therapyPARP Activity Is Essential for Retinal Photoreceptor Survival in the Human Homologous RhoI255del Mouse Model for Autosomal Dominant Retinitis Pigmentosa.
Journal of neurochemistryTargeting the Spliceosomal Protein USP39 Through Allosteric Ligands and PROTAC-Induced Degradation.
Angewandte Chemie (International ed. in English)A de novo splice-site variant in the retinitis pigmentosa 2 (RP2) gene identified in a symptomatic carrier woman.
Ophthalmic geneticsSING IMT telescopic intraocular lens implantation in a patient with inverse retinitis pigmentosa: A case report.
American journal of ophthalmology case reportsPreclinical Study on the Long-Term Efficacy and Safety of Sustained-Release Gas6 Liposomes Combined With MERTK Gene Therapy for Retinitis Pigmentosa.
Translational vision science & technologyRedefining cell death: ferroptosis as a game-changer in ophthalmology.
Frontiers in immunologyBreach and restoration of retinal immune privilege: barrier failure, innate dysregulation, and adaptive autoimmunity.
Frontiers in immunologyDifferential effects of HDAC inhibitors in the RhoI255d mouse model for autosomal dominant retinitis pigmentosa.
Cell death discoveryAqueous Humor Exosomal Membrane Proteins: Decoding Pathogenic Molecular Signatures in Retinitis Pigmentosa.
Translational vision science & technologyRetinal Impairments in Mice Lacking Both Nxnl1 and Nxnl2 Genes.
Investigative ophthalmology & visual scienceA congenic C57BL/6J rd1 mouse model for retinal degeneration research.
Experimental eye researchAPD-based rod cell model with integrated ion channel mechanisms for investigating the ERG a-wave and retinal diseases.
Free radical biology & medicineUbap1l Knockout Mice Model Recapitulates Retinal Degeneration Phenotype Observed in Patients and Exhibits Irregular Photoreceptor Morphology.
Investigative ophthalmology & visual scienceDeep Learning Detection of Retinitis Pigmentosa Inheritance Forms through Synthetic Data Expansion of a Rare Disease Dataset.
Research squareRetinal organoids mirror CRISPR-Cas9 gene editing efficiency observed in vivo.
Molecular therapy. Methods & clinical developmentLipid nanoparticle mediated base editing of the Q344X rhodopsin mutation associated with retinitis pigmentosa.
Gene therapyStem cell therapy for inherited retinal diseases: Trends and insights from 2000 to 2024.
Cell transplantationZonular compromise: A narrative review of indicators and management strategies.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyMODELING NATURAL HISTORY AND COST-EFFECTIVENESS OF GENE-AGNOSTIC TREATMENT IN RETINITIS PIGMENTOSA.
Retina (Philadelphia, Pa.)Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.
Journal of applied geneticsA self-supervised learning method for detection of retinitis pigmentosa and Stargardt disease.
Scientific reportsTherapeutic Potential of Partial Retinoid Agonists against Vertebrate Rhodopsin Misfolding Disorders.
ACS omegaClinical characteristics of EYS-associated retinal dystrophy in 291 Japanese patients.
NPJ genomic medicineSmall nuclear RNA genes in Mendelian disorders.
Nature geneticsLongitudinal Changes in Peripapillary Retinal Nerve Fiber Layer Thickness in Patients with Retinitis Pigmentosa.
Ophthalmology scienceApplication of Machine Learning to Discriminate Photoreceptor Cell Species in Xenotransplanted Chimeric Retinas.
Clinical and translational scienceA Case of Retinopathy-Sensory Neuropathy Syndrome With a Novel Compound Heterozygous FLVCR1 Variant.
Journal of the peripheral nervous system : JPNSRetinal Pigment Epithelium Extracellular Vesicles Induce Microglia Polarization in MERTK-Associated Retinal Degeneration.
Investigative ophthalmology & visual sciencePresynaptic Changes in Mouse Rod Photoreceptors During Early Retinitis Pigmentosa.
Investigative ophthalmology & visual scienceA human-specific RPGR isoform and a clinically approved Rho/ROCK inhibitor ameliorate defects associated with RPGR dysfunction.
Molecular therapy. Nucleic acidsCell-based regenerative therapy for retinal diseases: challenges and emerging bioengineering strategies.
Regenerative therapyAtypical Retinitis Pigmentosa With Systemic Features in Bardet-Biedl Syndrome.
Clinical case reportsNovel variant in PNPLA6 gene causes Oliver-McFarlane syndrome in a Chinese family: 13 years follow-up.
Frontiers in geneticsDisease burden associated with X-linked retinitis pigmentosa in Canada: a retrospective chart review study.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieStructural and vascular features of the retina and choroid with retinitis pigmentosa imaged using ultra-widefield swept-source optical coherence tomography angiography.
International ophthalmologyNovel Compound Heterozygous Variants in the TCTN2 Gene Causing Meckel-Gruber Syndrome 8 in a Non-Consanguineous Chinese Family.
Molecular genetics & genomic medicineEvaluation of the artificial intelligence chatbots in frequently asked questions about retinitis pigmentosa: a comparative analysis between ChatGPT-4 and Gemini-2.0.
International journal of retina and vitreousSenior-Løken syndrome with IQCB1/NPHP5 mutation in an adult: a case report.
Journal of medical case reportsAssociações
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Retinite pigmentosa e no aconselhamento genético da família.
Doenças relacionadas
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O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Atualmente, a retinite pigmentosa é uma doença degenerativa que não tem cura descrita nos registros oficiais de saúde. As abordagens focam no acompanhamento médico contínuo e em ensaios clínicos que avaliam novas terapias no mundo.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 8 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Citar este verbete
Raras. (s.d.). Retinite pigmentosa. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/retinite-pigmentosa
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Retinite pigmentosa
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Genética mendeliana
- fonte: OMIM
- Codificação WHO/SUS
- fonte: WHO ICD-10 / DATASUS
- CID-11 (futuro)
- fonte: WHO ICD-11
- NIH/GARD
- fonte: GARD (NIH)
- Indexação biomédica
- fonte: MeSH (NLM)
- Dado público estruturado
- fonte: Wikidata
- Moléculas estudadas na doença
- fonte: OpenTargets
- Alvos terapêuticos
- fonte: OpenTargets
- Reposicionamento
- fonte: Drug Repurposing Hub
- Ensaios clínicos
- fonte: ClinicalTrials.gov
