A distrofia muscular de Duchenne (DMD) é um tipo grave de distrofia muscular que afeta principalmente recém-nascidos do sexo masculino. A fraqueza muscular inicia-se geralmente por volta dos quatro anos de idade e progride rapidamente. A atrofia muscular geralmente ocorre primeiro nas coxas e na região pélvica, seguindo-se os membros superiores. Esta degeneração pode originar dificuldade em levantar-se. A maioria dos indivíduos perde a capacidade de andar até aos 12 anos de idade. Os músculos afetados podem parecer maiores devido ao aumento do teor de gordura.
Introdução
O que você precisa saber de cara
Distrofia em padrão é uma condição ocular rara que afeta a retina, podendo causar perda de visão central, distorção visual e sensibilidade à luz. Pode estar associada a deficiência intelectual e insuficiência ovariana prematura, com herança autossômica dominante ou recessiva.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 7 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 21 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
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Essential for retina photoreceptor outer segment disk morphogenesis, may also play a role with ROM1 in the maintenance of outer segment disk structure (By similarity). Required for the maintenance of retinal outer nuclear layer thickness (By similarity). Required for the correct development and organization of the photoreceptor inner segment (By similarity)
MembraneCell projection, cilium, photoreceptor outer segmentPhotoreceptor inner segment
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.
Associates with the cytoplasmic domain of a variety of cadherins. The association of catenins to cadherins produces a complex which is linked to the actin filament network, and which seems to be of primary importance for cadherins cell-adhesion properties. Can associate with both E- and N-cadherins. Originally believed to be a stable component of E-cadherin/catenin adhesion complexes and to mediate the linkage of cadherins to the actin cytoskeleton at adherens junctions. In contrast, cortical ac
Cytoplasm, cytoskeletonCell junction, adherens junctionCell membraneCell junctionCytoplasmNucleus
May be involved in cell cycle regulation by chromatin remodeling
Nucleus
Retinal dystrophy with or without extraocular anomalies
An autosomal recessive disease characterized by progressive retinal dystrophy, chorioretinal macular atrophy, reduced cone and rod responses on ERG, and decrease visual acuity. Extraocular anomalies are variably present in some patients and include pulmonary fibrosis, sensorineural hearing loss, and endocrine features such as goiter and primary ovarian insufficiency.
Transcription factor probably involved in the development of the brain and the sense organs. Can bind to the bicoid/BCD target sequence (BTS): 5'-TCTAATCCC-3'
Nucleus
Microphthalmia, syndromic, 5
Patients manifest unilateral or bilateral microphthalmia/clinical anophthalmia and variable additional features including pituitary dysfunction, coloboma, microcornea, cataract, retinal dystrophy, hypoplasia or agenesis of the optic nerve, agenesis of the corpus callosum, developmental delay, joint laxity, hypotonia, and seizures. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues (anophthalmia). In many cases, microphthalmia/anophthalmia occurs in association with syndromes that include non-ocular abnormalities.
Stress-activated serine/threonine-protein kinase involved in cytokines production, endocytosis, cell migration, chromatin remodeling and transcriptional regulation. Following stress, it is phosphorylated and activated by MAP kinase p38-alpha/MAPK14, leading to phosphorylation of substrates. Phosphorylates serine in the peptide sequence, Hyd-X-R-X(2)-S, where Hyd is a large hydrophobic residue. MAPKAPK2 and MAPKAPK3, share the same function and substrate specificity, but MAPKAPK3 kinase activity
NucleusCytoplasm
Macular dystrophy, patterned, 3
A form of retinal patterned dystrophy, characterized by retinal pigment epithelium and Bruch's membrane changes resembling a 'dry desert land'. It begins around the age of 30 and progresses to retinitis pigmentosa. MDPT3 inheritance is autosomal dominant.
Variantes genéticas (ClinVar)
224 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
15 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 — Distrofia em padrão
Selecione um estado ou use sua localização para ver resultados.
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
Pesquisa e ensaios clínicos
4 ensaios clínicos encontrados.
Publicações mais relevantes
A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.
The gene retinoid isomerohydrolase retinal pigment epithelium 65 (RPE65; OMIM# 180069), is abundantly expressed in the RPE and encodes an isomerohydrolase enzyme that catalyzes an essential step in the visual cycle by converting all-trans retinyl ester to 11-cis retinol. Most pathogenic variants in RPE65 are loss-of-function and have been associated with autosomal recessive inherited retinal diseases (IRD) such as Leber congenital amaurosis (LCA; OMIM# 204100) or retinitis pigmentosa (RP) 20 (OMIM# 613794). Both of these biallelic RPE65-associated conditions can be treated with an ocular gene therapy known as Luxturna (Voretigene neparvovec-rzyl) but, owing to different pathomechanisms, autosomal dominant forms of RPE65-associated IRDs do not have an approved therapy. The best characterized autosomal dominant RPE65 variant is of Irish origin, p.(Asp477Gly), but a novel autosomal dominant variant of Belgian origin has recently been identified that causes a macular pattern dystrophy resembling that occurring in maternally inherited diabetes and deafness (MIDD), with chorioretinal atrophy as a hallmark. Here, we describe the case of a 67-year-old Belgian patient presenting with progressive vision loss and macular pattern dystrophy resembling MIDD, which was found to be caused by the same heterozygous variant in RPE65 identified by Van Vooren and colleagues. We emphasize the importance of considering RPE65 heterozygosity in cases resembling MIDD with negative mitochondrial genome sequencing. In addition, we highlight outer retinal tubulations (ORTs) as an optical coherence tomography feature in our patient, like some cases of MIDD, supporting an overlapping clinical phenotype.
Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy.
Clinical variability and incomplete penetrance characterize retinal dystrophies associated with PRPH2 gene variants. Here, we utilized adaptive nanopore long-read sequencing (LRS) to solve a genetic diagnosis for dominantly inherited macular dystrophies in two families. Patient 1 (P1) and her daughter, Patient 2 (P2) were clinically evaluated using multimodal imaging and electrophysiological testing at Helsinki University Hospital, Finland, and Patient 3 (P3) from a different family, at Loma Linda University, USA. The patients were subjected to retinal dystrophy gene panels and the suspected duplications were characterized with nanopore LRS. P1 presented with butterfly-shaped pattern dystrophy (BPD) and P2 with vitelliform macular dystrophy. P3 showed BPD in the right eye and late-stage BPD in the left. Gene panels suggested that the patients shared the same heterozygous 482 bp PRPH2 exon 2 duplication. LRS revealed the duplications to be almost 4kb in size with breakpoints (BP) in intronic Alu-elements. In P1 and P2, the 3'BP resides within a novel Alu-element. The duplication has not been reported earlier and is missing from the gnomAD database. This study presents novel PRPH2 exon 2 duplications associated with macular dystrophies.
Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.
Background: Pathogenic variants in interphotoreceptor matrix proteoglycan 1 (IMPG1) have been associated with autosomal dominant and recessive retinitis pigmentosa (RP) and autosomal dominant adult vitelliform macular dystrophy (AVMD). Monoallelic pathogenic variants in IMPG2 have been linked to maculopathy and biallelic variants to RP with early onset macular atrophy. Herein we characterise the phenotypic and genotypic features of patients with IMPG1/IMPG2 retinopathy and report novel variants. Methods: Patients with IMPG1 and IMPG2 variants and compatible phenotypes were retrospectively identified. Clinical data were obtained from reviewing the medical records. Phenotypic data included visual acuity, imaging included ultra-widefield pseudo-colour, fundus autofluorescence, and optical coherence tomography (OCT). Genetic testing was performed using next generation sequencing (NGS). Variant pathogenicity was investigated using in silico analysis (SIFT, PolyPhen-2, mutation taster, SpliceAI). The evolutionary conservation of novel missense variants was also investigated. Results: A total of 13 unrelated patients were identified: 2 (1 male; 1 female) with IMPG1 retinopathy and 11 (7 male; 4 female) with IMPG2 retinopathy. Both IMPG1 retinopathy patients were monoallelic: one patient had adult vitelliform macular dystrophy (AVMD) with drusenoid changes while the other had pattern dystrophy (PD), and they presented to clinic at age 81 and 72 years, respectively. There were 5 monoallelic IMPG2 retinopathy patients with a maculopathy phenotype, of whom 1 had PD and 4 had AVMD. The mean age of symptom onset of this group was 54.2 ± 11.8 years, mean age at presentation was 54.8 ± 11.5 years, and mean BCVAs were 0.15 ± 0.12 logMAR OD and -0.01 ± 0.12 logMAR OS. Six biallelic IMPG2 patients had RP with maculopathy, where the mean age of onset symptom onset was 18.4 years, mean age at examination was 68.7 years, and mean BCVAs were 1.90 logMAR OD and 1.82 logMAR OS. Variants in IMPG1 included one missense and one exon deletion. A total of 11 different IMPG2 variants were identified (4 missense, 7 truncating). A splicing defect was predicted for the c.871C>A p.(Arg291Ser) missense IMPG2 variant. One IMPG1 and five IMPG2 variants were novel. Conclusions: This study describes the phenotypic spectrum of IMPG1/IMPG2 retinopathy and six novel variants are reported. The phenotypes of PD and AVMD in monoallelic IMPG2 patients may result from haploinsufficiency, supported by the presence of truncating variants in both monoallelic and biallelic cases. The identification of novel variants expands the known genetic landscape of IMPG1 and IMPG2 retinopathies. These findings contribute to diagnostic accuracy, informed patient counselling regarding inheritance pattern, and may help guide recruitment for future therapeutic interventions.
Clinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.
Mitochondrial disorders, particularly those associated with the m.3243A>G mutation in the MT-TL1 gene, can manifest with diverse systemic and ocular features, including mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) and maternally inherited diabetes and deafness. Retinal involvement often presents as macular pattern dystrophy. A 65-year-old female with a known history of mitochondrial disease (m.3243A>G mutation) presented for evaluation of retinal findings. She had asymptomatic diabetes and deafness, with visual acuity measured at 0.12 bilaterally. Clinical examination revealed clear corneas, nonsignificant cataracts, and fundoscopic findings of patchy retinal and parafoveal atrophy with preserved foveal regions. Optical coherence tomography indicated a preserved fovea, but thinning of perifoveal layers. The findings suggest retinal dystrophy indicative of mitochondrial retinopathy, characterized by macular pattern dystrophy associated with the m.3243A>G mutation. Given the potential for varied clinical presentations linked to this mutation, multidisciplinary evaluations are essential to assess systemic involvement and facilitate appropriate management. This case underscores the importance of recognizing retinal manifestations in patients with mitochondrial disorders, particularly in those with the m.3243A>G mutation, and highlights the need for comprehensive monitoring and care.
Evaluating the clinical utility of multimodal large language models in rare maculopathy.
This study aimed to assess how multimodal large language models (MLLM) diagnose and differentiate Pentosan Polysulfate (PPS) Maculopathy from other phenotypic mimics. A retrospective review of clinical records and multimodal retinal imaging was conducted with patients from the Shiley Eye Institute and Casey Eye Institute. Four MLLMs (ChatGPT-4o, Claude 3.5 Sonnet, Google Gemini 1.5 Pro, Perplexity Llama 3.1 Sonar/Default) along with human retinal specialists answered prompts based on retinal imaging and demographic data. Performance was evaluated using accuracy, sensitivity and specificity estimates. The study included 126 eyes from 63 patients, with 36 eyes with PPS maculopathy, 50 eyes with Stargardt disease, and 40 eyes with PRPH2-associated multifocal pattern dystrophy. MLLMs showed improved accuracy and sensitivity when answer choices were restricted, with ChatGPT consistently performing best when all imaging modalities were prompted together. The inclusion of demographic data further enhanced performance in prompts with limited answer choices. Human retinal specialist evaluations aligned with MLLM performance trends and also improved with demographic data. While MLLMs show diagnostic potential, further refinement is needed before clinical implementation. These findings highlight the importance of prompt design and demographic data to optimize MLLM performance with retinal imaging modalities.
Publicações recentes
Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.
A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.
Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.
Clinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.
Evaluating the clinical utility of multimodal large language models in rare maculopathy.
📚 EuropePMC89 artigos no totalmostrando 121
A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.
Ophthalmic geneticsExpanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.
GenesClinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyEvaluating the clinical utility of multimodal large language models in rare maculopathy.
Scientific reportsLong-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy.
Ophthalmic geneticsGenotype-Phenotype Correlations in PRPH2 Retinopathies: A Comprehensive Analysis of 36 Patients from the Oxford Eye Hospital, UK.
GenesCTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.
Documenta ophthalmologica. Advances in ophthalmologyRPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals.
Research squareButterfly-shaped pattern dystrophy complicated by retinal pigment epithelium tear - case report.
European journal of ophthalmologyLONG-TERM OUTCOMES OF ANTI-VEGF THERAPY FOR MACULAR NEOVASCULARIZATION IN PRPH2-ASSOCIATED RETINOPATHY.
Retina (Philadelphia, Pa.)Foveal crack sign and macular pattern dystrophy.
International journal of retina and vitreousRetrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.
Scientific reportsClinical and Imaging Characteristics of PRPH2 Retinopathies in a Longitudinal Cohort and Diagnostic Implications.
Investigative ophthalmology & visual sciencePRPH2-ASSOCIATED RETINAL DISEASES: A SYSTEMATIC REVIEW OF PHENOTYPIC FINDINGS.
American journal of ophthalmologyA new mouse model for PRPH2 pattern dystrophy exhibits functional compensation prior and subsequent to retinal degeneration.
Human molecular geneticsLONG-TERM FOLLOW-UP OF A FAMILY WITH A3243G MITOCHONDRIAL SYNDROME.
Retinal cases & brief reportsUsing Multimodal Imaging to Refine the Phenotype of PRPH2-associated Retinal Degeneration.
Ophthalmology. RetinaNovel Variants in ABCA4-Related Retinopathies with Structural Re-Assessment of Variants of Uncertain Significance.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur AugenheilkundeNon-syndromic OTX2-associated pattern dystrophy: a 10-year multimodal imaging study.
Documenta ophthalmologica. Advances in ophthalmologyDetailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy.
Case reports in ophthalmologyGlycogen myophosphorylase loss causes increased dependence on glucose in iPSC-derived retinal pigment epithelium.
The Journal of biological chemistryAdult-onset foveomacular vitelliform dystrophy: epidemiology, pathophysiology, imaging, and prognosis.
Frontiers in ophthalmologyEstablishment of an induced pluripotent stem cell line LEIi019-A from an early-onset retinal dystrophy patient with the autosomal dominant OTX2 c.259G>A variant.
Stem cell researchRetinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.
Investigative ophthalmology & visual scienceOptical Coherence Tomography in Inherited Macular Dystrophies: A Review.
Diagnostics (Basel, Switzerland)Late-onset Kjellin syndrome: Diagnosis of SPG11 on fundus examination.
European journal of ophthalmologyNovel heterozygous PRPH2 variant identified in a patient with spinocerebellar ataxia type 14 and macular dystrophy.
Ophthalmic geneticsA Retrospective Longitudinal Study of 460 Patients with ABCA4-Associated Retinal Disease.
OphthalmologyPhenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Progress in retinal and eye researchDiagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.
Diagnostics (Basel, Switzerland)Quantitative microvascular alterations in butterfly-shaped pattern dystrophy and adult-onset foveomacular vitelliform dystrophy.
Journal francais d'ophtalmologieThe Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.
Ophthalmology. Retinaα-catenin mechanosensitivity as a route to cytokinesis failure through sequestration of LZTS2.
bioRxiv : the preprint server for biologyChoroidal neovascularization associated with butterfly-shaped pattern dystrophy - a case report.
Romanian journal of ophthalmologyComparative study of PRPH2 D2 loop mutants reveals divergent disease mechanism in rods and cones.
Cellular and molecular life sciences : CMLSA rare association between angioid streaks and pattern dystrophy.
Arquivos brasileiros de oftalmologiaPRPH2 mutation c.582-1G>A causing adult-onset macular dystrophy with a benign concentric annular macular dystrophy phenotype in a family.
Arquivos brasileiros de oftalmologiaElectrophysiological Evaluation of Macular Dystrophies.
Journal of clinical medicineVitelliform maculopathy: Diverse etiologies originating from one common pathway.
Survey of ophthalmologyPRPH2-Associated Retinopathy: Novel Variants and Genotype-Phenotype Correlations.
Ophthalmology. RetinaIncidence and Risk Factors of Visual Impairment in Patients with Angioid Streaks and Macular Neovascularization.
Ophthalmology. RetinaKjellin's syndrome: Spastic paraplegia and multifocal pattern dystrophy simulating fundus flavimaculatus.
Archivos de la Sociedad Espanola de OftalmologiaLONG-TERM FOLLOW-UP OF PRPH2 -ASSOCIATED RETINAL DYSTROPHY.
Retinal cases & brief reportsPATTERN DYSTROPHY-LIKE CHANGES ASSOCIATED WITH A VERY HIGH SERUM FERRITIN LEVEL IN β-THALASSEMIA MAJOR.
Retinal cases & brief reportsLongitudinal Analysis of Functional and Structural Outcome Measures in PRPH2-Associated Retinal Dystrophy.
Ophthalmology. RetinaBlue-light fundus autofluorescence imaging of pigment epithelial detachments.
Eye (London, England)Age-Related Macular Degeneration Masquerade: A Review of Pentosan Polysulfate Maculopathy and Implications for Clinical Practice.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy.
Journal of clinical medicinePRPH2-Associated Macular Dystrophy in 4 Family Members with a Novel Mutation.
Ophthalmic geneticsA Case Report of Pseudoxanthoma Elasticum with Rare Sequence Variants in Genes Related to Inherited Retinal Diseases.
Diagnostics (Basel, Switzerland)Primary and secondary focal choroidal excavation morphologic phenotypes, associated ocular disorders and prognostic implications.
The British journal of ophthalmologyMultifocal Pattern Dystrophy Simulating Fundus Flavimaculatus: Multimodal Imaging for Early Diagnosis.
Case reports in ophthalmologyOptical coherence tomography findings and choroidal neovascular membrane detectability with optical coherence tomography angiography in different subtypes of pattern dystrophy.
Clinical & experimental optometryTreatment and longitudinal follow-up of CNV associated with pattern dystrophy with novel PRPH2 variant.
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Eye (London, England)Multimodal Imaging in a Case with Bilateral Choroidal Folds.
Case reports in ophthalmologyExpanded Clinical Spectrum of Pentosan Polysulfate Maculopathy: A Macula Society Collaborative Study.
Ophthalmology. RetinaClinical and molecular findings in patients with pattern dystrophy.
Ophthalmic geneticsPhenotypic Features and Genetic Findings in a Cohort of Italian Pseudoxanthoma Elasticum Patients and Update of the Ophthalmologic Evaluation Score.
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Retinal cases & brief reportsComparing Fluorescence Lifetime Imaging Ophthalmoscopy in Atrophic Areas of Retinal Diseases.
Translational vision science & technologyFundus flavimaculatus-like in myotonic dystrophy: a case report.
BMC ophthalmologyUnusual clinical phenotype of Stargardt disease.
Arquivos brasileiros de oftalmologiaPentosan polysulfate maculopathy.
Survey of ophthalmologyRetinal imaging in inherited retinal diseases.
Annals of eye scienceNovel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.
European journal of ophthalmologyNeuro-ophthalmic manifestations of mitochondrial disorders and their management.
Taiwan journal of ophthalmologyDeep learning-based classification of retinal atrophy using fundus autofluorescence imaging.
Computers in biology and medicineClinical and Genetic Findings in CTNNA1-Associated Macular Pattern Dystrophy.
OphthalmologyPRPH2-Related Retinal Diseases: Broadening the Clinical Spectrum and Describing a New Mutation.
GenesUnilateral pattern of macular dystrophy and associated systemic pathology.
Archivos de la Sociedad Espanola de OftalmologiaQuantitative Fundus Autofluorescence and Genetic Associations in Macular, Cone, and Cone-Rod Dystrophies.
Ophthalmology. RetinaA Family Affected by Novel C213W Mutation in PRPH2: Long-Term Follow-Up of CNV Secondary to Pattern Dystrophy.
Ophthalmic surgery, lasers & imaging retinaPattern dystrophy-like changes and coquille d'oeuf atrophy in elderly patients affected by pseudoxanthoma elasticum.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieClinical phenotype of mitochondrial diabetes due to rare mitochondrial DNA mutations.
Annales d'endocrinologieAnti-VEGF and Retinal Dystrophies.
Current drug targetsINTRARETINAL HYPERREFLECTIVE LINES.
Retina (Philadelphia, Pa.)Macular hole and serous pigment epithelial detachment in bilateral acquired vitelliform lesions.
American journal of ophthalmology case reportsLongitudinal case study and phenotypic multimodal characterization of McArdle disease-linked retinopathy: insight into pathomechanisms.
Ophthalmic geneticsSpectral domain optical coherence tomography findings in myotonic dystrophy.
Neuromuscular disorders : NMDNovel molecular mechanisms for Prph2-associated pattern dystrophy.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyOuter retinal tubulation and inner retinal pseudocysts in a patient with maternally inherited diabetes and deafness evaluated with optical coherence tomography angiogram.
Indian journal of ophthalmologyMacular dystrophies: clinical and imaging features, molecular genetics and therapeutic options.
The British journal of ophthalmologyPRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy.
Ophthalmic geneticsFoveal Sparing in Central Retinal Dystrophies.
Investigative ophthalmology & visual scienceEfficacy of anti-VEGF in the treatment of choroidal neovascular membrane secondary to pattern dystrophy simulating fundus flavimaculatus.
GMS ophthalmology casesVasculitis and Retrofoveal Choroidal Neovessels in a Case of Multifocal Pattern Dystrophy.
Klinische Monatsblatter fur Augenheilkunde[Imaging of an atypical Butterfly Shaped Pattern dystrophy producing a "five-pointed star" appearance].
Journal francais d'ophtalmologieRetinal findings in carriers of monoallelic ABCC6 mutations.
The British journal of ophthalmologyCase Series: Multimodal Imaging Reveals the Spectrum of Pattern Dystrophies of the Retinal Pigment Epithelium.
Optometry and vision science : official publication of the American Academy of OptometryPattern Dystrophy: An Imprecise Diagnosis in the Age of Precision Medicine.
International ophthalmology clinicsAnti-VEGF treatment for choroidal neovascularization complicating pattern dystrophy-like deposit associated with pseudoxanthoma elasticum.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieEYES WITH SUBRETINAL DRUSENOID DEPOSITS AND NO DRUSEN: Progression of Macular Findings.
Retina (Philadelphia, Pa.)Optical coherence tomography angiography findings in a case of adult-onset vitelliform dystrophy.
Clinical & experimental optometryPattern dystrophies in patients treated with deferoxamine: report of two cases and review of the literature.
BMC ophthalmologyRETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE.
Retinal cases & brief reportsOligomerization of Prph2 and Rom1 is essential for photoreceptor outer segment formation.
Human molecular geneticsChoroidal osteoma and pattern dystrophy of retinal pigment epithelium.
International ophthalmologyQuantitative Fundus Autofluorescence in Pseudoxanthoma Elasticum.
Investigative ophthalmology & visual scienceClinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice.
Journal francais d'ophtalmologieMultimodal imaging of posterior ocular involvement in McArdle's disease.
Clinical & experimental optometryThe Nine-Step Minnesota Grading System for Eyebank Eyes With Age Related Macular Degeneration: A Systematic Approach to Study Disease Stages.
Investigative ophthalmology & visual sciencePseudovitelliform maculopathy associated with deferoxamine toxicity: multimodal imaging and electrophysiology of a rare entity.
Digital journal of ophthalmology : DJOTHE EXPANDING CLINICAL SPECTRUM OF CHOROIDAL EXCAVATION IN MACULAR DYSTROPHIES.
Retina (Philadelphia, Pa.)The Evolution of Outer Retinal Tubulation, a Neurodegeneration and Gliosis Prominent in Macular Diseases.
OphthalmologyMultimodal imaging in a case of butterfly pattern dystrophy of retinal pigment epithelium.
International ophthalmologyTHE FUNDUS PHENOTYPE ASSOCIATED WITH THE p.Ala243Val BEST1 MUTATION.
Retina (Philadelphia, Pa.)Rom1 converts Y141C-Prph2-associated pattern dystrophy to retinitis pigmentosa.
Human molecular geneticsSpontaneous Regression of Choroidal Neovascularization in a Patient with Pattern Dystrophy.
Case reports in ophthalmological medicinePattern dystrophy in a female carrier of RP2 mutation.
Ophthalmic geneticsComet Lesions in Patients with Pseudoxanthoma Elasticum.
Turkish journal of ophthalmologyβ-Thalassemia and ocular implications: a systematic review.
BMC ophthalmologyMultimodal imaging in multifocal pattern dystrophy simulating fundus flavimaculatus.
Indian journal of ophthalmologyFrequency, Phenotypic Characteristics and Progression of Atrophy Associated With a Diseased Bruch's Membrane in Pseudoxanthoma Elasticum.
Investigative ophthalmology & visual scienceThe K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.
Human molecular geneticsVitelliform dystrophies: Prevalence in Olmsted County, Minnesota, United States.
Ophthalmic geneticsEvaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.
Ophthalmic geneticsRDS Functional Domains and Dysfunction in Disease.
Advances in experimental medicine and biologyMacular pattern dystrophy and homonymous hemianopia in MELAS syndrome.
BMJ case reportsAdult-onset foveomacular vitelliform dystrophy: A fresh perspective.
Progress in retinal and eye researchFounder Effect of a c.828+3A>T Splice Site Mutation in Peripherin 2 (PRPH2) Causing Autosomal Dominant Retinal Dystrophies.
JAMA ophthalmologyAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- A heterozygous pathogenic RPE65 variant phenocopies a mitochondrial retinopathy.
- Long-read sequencing uncovers novel pathogenic duplications in the PRPH2 gene in patients with macular dystrophy.
- Expanding the Genetic Spectrum in IMPG1 and IMPG2 Retinopathy.
- Clinical insights into mitochondrial retinopathy: A case report on m.3243A>G mutation and macular dystrophy.Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society· 2025· PMID 41367844mais citado
- Evaluating the clinical utility of multimodal large language models in rare maculopathy.
- Identification of a founder mutation in the PRPH2 gene in an isolated Pacific Island population.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:63454(Orphanet)
- MONDO:0018973(MONDO)
- GARD:9821(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
