A Amaurose Congênita de Leber (ACL) é uma doença da retina (a parte do olho que capta a luz) que causa cegueira. Ela é diagnosticada quando as respostas a exames que medem a atividade elétrica da retina (como o eletroretinograma de Ganzfeld, ou ERG) estão muito abaixo do normal ou são praticamente inexistentes. A condição está associada a uma perda visual grave que surge já no primeiro ano de vida da criança.
Introdução
O que você precisa saber de cara
Leber congenital amaurosis, também conhecida como LCA, é um distúrbio ocular que está presente desde o nascimento (congênito). Esta condição afeta principalmente a retina, que é o tecido especializado na parte posterior do olho que detecta luz e cor. Pessoas com a condição geralmente apresentam comprometimento visual grave que começa ao nascer ou logo depois. O comprometimento visual tende a ser severo e pode piorar ao longo do tempo.
Leber congenital amaurosis também está associada a outros problemas de visão, incluindo sensibilidade aumentada à luz (fotofobia), movimentos involuntários dos olhos (nistagmo) e hipermetropia extrema (hipermetropia). As pupilas, que normalmente se dilatam e contraem em resposta à quantidade de luz que entra no olho, não reagem normalmente à luz. Em vez disso, elas se dilatam e contraem mais lentamente que o normal, ou podem não responder à luz de forma alguma.
Um comportamento específico chamado sinal oculo-digital de Franceschetti é característico da Leber congenital amaurosis. Esse sinal consiste em indivíduos afetados cutucando, pressionando e esfregando os olhos com um nódoa ou dedo. Cutucar os olhos frequentemente resulta na sensação de flashes de luz chamados fosfenos. Pesquisadores suspeitam que esse comportamento pode contribuir para olhos mais fundos em crianças afetadas.
Em casos muito raros, atraso no desenvolvimento e deficiência intelectual foram relatados em pessoas com as características da Leber congenital amaurosis. Por causa da perda visual, crianças afetadas podem tornar‑se isoladas. Oferecer às crianças oportunidades de brincar, ouvir, tocar, compreender e outras intervenções educacionais precoces pode prevenir atrasos no desenvolvimento em crianças com Leber congenital amaurosis.
Pelo menos 20 tipos genéticos de Leber congenital amaurosis foram descritos. Os tipos são diferenciados pela causa genética, pelos padrões de perda visual e pelas anomalias oculares relacionadas.
Fonte: MedlinePlus Genetics (NLM/NIH), traduzidoA Amaurose Congênita de Leber (ACL) é uma doença da retina (a parte do olho que capta a luz) que causa cegueira. Ela é diagnosticada quando as respostas a exames que medem a atividade elétrica da retina (como o eletroretinograma de Ganzfeld, ou ERG) estão muito abaixo do normal ou são praticamente inexistentes. A condição está associada a uma perda visual grave que surge já no primeiro ano de vida da criança.
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 28 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 93 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
22 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Curadoria gene-doença
fontes oficiaisLeber 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.
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.
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.
Snowflake vitreoretinal degeneration
Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment.
Joubert syndrome 5
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 5 shares the neurologic and neuroradiologic features of Joubert syndrome together with severe retinal dystrophy and/or progressive renal failure characterized by nephronophthisis.
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.
Spondylometaphyseal dysplasia with cone-rod dystrophy
An autosomal recessive disorder characterized by postnatal growth deficiency resulting in profound short stature, rhizomelia with bowing of the lower extremities, platyspondyly with anterior vertebral protrusions, progressive metaphyseal irregularity and cupping with shortened tubular bones, and early-onset progressive visual impairment associated with a pigmentary maculopathy and electroretinographic evidence of cone-rod dysfunction.
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.
Leber congenital amaurosis 1
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.
Senior-Loken syndrome 5
A renal-retinal disorder characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease. Typically this disorder becomes apparent during the first year of life.
Leber congenital amaurosis with early-onset deafness
An autosomal dominant disease characterized by severe retinal degeneration and sensorineural hearing loss. Symptoms occur within the first decade of life. Onset at birth is observed in some patients.
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.
Leber congenital amaurosis 6
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.
Leber congenital amaurosis 19
A form of Leber congenital amaurosis, 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. LCA19 is an autosomal recessive form characterized by reduced vision in early childhood and severely reduced responses of both rods and cones.
Leber congenital amaurosis 12
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 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 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.
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.
Leber congenital amaurosis 5
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.
Leber congenital amaurosis 9
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.
Klippel-Feil syndrome 1, autosomal dominant
A skeletal disorder characterized by congenital fusion of cervical vertebrae. It is due to a failure in the normal segmentation of vertebrae during the early weeks of fetal development. The clinical triad consists of short neck, low posterior hairline, and limited neck movement. Deafness is a feature in some cases and may be of sensorineural, conductive, or mixed type.
Medicamentos e terapias
Mecanismo: Retinoid isomerohydrolase exogenous gene
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: Glucocorticoid receptor agonist
Mecanismo: CEP290 mRNA positive modulator
Variantes genéticas (ClinVar)
437 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 10.146 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
42 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 — Amaurose congênita de Leber
Centros de Referência SUS
24 centros habilitados pelo SUS para Amaurose congênita de Leber
Centros para Amaurose congênita de Leber
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 728
Establishment of an induced pluripotent stem cell line from a patient with Leber Congenital Amaurosis.
A human induced pluripotent stem cell (hiPSC) line BTHBIOi006-A was generated from peripheral blood mononuclear cells of a patient carrying RDH12 biallelic mutations via episomal reprogramming. The line exhibits a normal karyotype, expresses pluripotent markers, differentiates into three germ layers, and is mycoplasma-free, serving as a tool for retinal disease research.
Functional In Vitro Assessment of rAAV-Delivered Retinol Dehydrogenase 12 (RDH12) Activity.
Gene replacement therapy can be used for the treatment of hereditary retinopathies, such as retinol dehydrogenase 12 (RDH12)-associated Leber congenital amaurosis 13 (LCA13); however, the lack of animal models accurately mimicking the human disease phenotype requires the initial in vitro confirmation of therapy efficacy. Two synthetic serotypes (2.7m8 and PHP.S) of adeno-associated virus (AAV) were tested against the natural serotypes (5 and 9) with the aim of increasing the transduction efficiency and delivery of the green fluorescent protein (GFP) in HEK293 and ARPE-19 cells. The three most efficient serotypes were then used for the delivery of RDH12, followed by the assessment of its functional activity in the transduced cells. In the in vitro test system, a cassette encoding GFP and the wild-type (wt) RDH12 was delivered into ARPE-19 and HEK293 cells by rAAV 5, PHP.S, and 7m8 at 30K and 60K VG/cell. RDH12 mutants pThr155Ile (RDH12mut) and Met1* (RDH12sc) were used to mimic the RDH12-associated pathology. Transduction efficiency and protein expression were assessed by flow cytometry, fluorescence microscopy, and Western blotting. Percentages of AAV7m8-transduced GFP+ cells 1.5- and 6.4-times higher were observed as compared to AAV5 and AAV.PHP.S, respectively. 4-hydroxynonenal (4-HNE), more toxic to the cells with dysfunctional RDH12, was used on cells expressing the three RDH12wt versions. Following treatment with 100 μM 4-HNE, 2.6 (AAV5) and 8.8 (AAV7m8) times more cells co-expressing RDH12wt and GFP were alive as compared to the cells expressing only GFP. The number of live RDH12wt-expressing cells was also 32 and 9.6 times higher than that of RDH12sc-expressing cells and the negative control (NC), respectively. The developed approach enables the functional assessment of RDH12 replacement therapy only in rAAV-transduced cells and demonstrates that rAAV7m8 is the most efficient serotype for this purpose.
Biallelic germline variants in the hematologic malignancy predisposition gene DDX41 cause retinal dystrophy through dysregulation of retinal homeostasis.
Leber congenital amaurosis (LCA) and Early-onset severe retinal dystrophy (EOSRD) manifest within the first months and the first years of life, respectively. They are the leading cause of severe vision impairment in childhood. Using next generation sequencing, we identified eight families of patients with LCA/EOSRD carrying biallelic combination of six germline variants in DDX41 , encoding a DEAD-box ATPase RNA helicase involved in RNA splicing, innate immunity and hematopoiesis. In fibroblasts from a patient carrying the homozygous missense variant c.1187T>C (p. Ile396Thr) and in the retina of Ddx41 I396T/I396T mice, DDX41 protein expression was decreased. Electroretinogram recordings in these animals also revealed significant visual dysfunction since the first month of age, supporting a pathogenic role of DDX41 in retinal physiology. Immunohistochemical staining showed that the protein localized to nuclei in all major retinal cell types and to photoreceptor synapses, while biochemical assays showed that LCA/EOSRD variants disrupt DDX41 interactions with RNA through misfolding or the formation of non-productive aggregates, resulting in loss-of-function. Transcriptomic profiling of mutant mouse retinas revealed dysregulation of gene networks associated with Müller cells (MCs), glial cells essential for maintaining retinal structure, metabolic balance, and immune surveillance. The dysregulated pathways chiefly involved cell morphogenesis and junction formation, consistent with immunohistological analyses of widespread architectural disruption and nuclear disorganization, identifying MCs as a site of dysfunction. Together, these findings establish for the first time the involvement of DDX41 in LCA/EOSRD and provide new insights into the role of helicases in retinal homeostasis.
Combination gene therapy with AAV based RPE65 and survivin vectors sustains phenotypic rescue in neural retina of LCA2 mice.
Leber congenital amaurosis type 2 (LCA2) is an inherited retinal disorder, with severe vision impairment in children, progressing to complete blindness in the later stages of life. The current approved treatment involves Adeno-associated virus (AAV) vector serotype 2-based subretinal delivery of human RPE65 gene. However, long-term follow-up have reported gradual loss of phenotypic response. To overcome this, we have pursued strategies aimed at improving the transduction efficacy of the vector, optimizing the transgene for enhanced protein expression and co-delivering the therapeutic vector along with the anti-apoptotic factor, Survivin /baculoviral IAP repeat containing 5 (BIRC5) gene in the neural retina. We tested the efficacy of modified RPE65 transgene (Kozak/ codon optimized [CodOpt]) carried by an improved AAV2 vector (AAV2K665Q) against RPE65 wild type (WT) and observed that vector carrying CodOptRPE65 performed 1.8-fold better in vitro. Subsequently, the codon optimized RPE65 transgene containing vector was evaluated in a pre-clinical mouse model of LCA2 (rd12) with co-delivery of Survivin in an AAV5 vector. Animals were monitored for up to 6 months, and electroretinography revealed improved A- and B-wave response of 2.57- fold and 1.76-fold, respectively in combination treated eyes (CodOptRPE65 + Survivin) as compared to mock group. Co-delivery of CodOptRPE65 + Survivin did not significantly enhance retinal function by ERG when compared to AAV2K665Q-CMV-codon-optimized RPE65 alone. However, immunohistochemistry revealed that expression of apoptotic marker Bax is significantly reduced and anti-apoptotic marker Bcl2 significantly increased in animals receiving the combination therapy. A TUNEL assay further confirmed the decrease in apoptosis in the combination treatment group. These findings suggest that incorporating anti-apoptotic factors may strengthen the phenotypic rescue and control degeneration of the neural retina in LCA2 patients, offering a promising avenue for future clinical implementation.
Novel Genotype-Phenotype Correlations in CRB1-Retinopathies: Insights from Isoforms and Protein Domains Linked to Disease Severity.
This study evaluates genotype-phenotype correlations in CRB1-retinopathies using standardized phenotypic classification and comprehensive analysis of Crumbs homolog 1 (CRB1)-A and CRB1-B involvement alongside in silico protein modeling analysis. Retrospective multicenter cohort study. A total of 389 patients with biallelic disease-causing CRB1 variants from 50 international cohorts, including 73 patients from Moorfields Eye Hospital. Phenotypes were reclassified using standardized diagnostic criteria. Genotype-phenotype correlations were assessed based on CRB1 isoform involvement and protein domain localization of variants, supported by in silico structural modeling. Associations between CRB1 variant location, isoform involvement, and clinical phenotypes including Leber congenital amaurosis/early onset severe retinal dystrophy (LCA/EOSRD), retinitis pigmentosa (RP), cone-rod dystrophy, and macular dystrophy (MD). All patients had variants affecting CRB1-A, with none exclusively affecting CRB1-B. Mutations specific to CRB1-A, sparing CRB1-B were associated with MD. Mutations in exons 6, 7, and 9 were associated to LCA/EOSRD and RP phenotypes, whereas exon 2 variants were linked to MD. Genotype-phenotype correlations included c.1841G>T p.(Gly614Val) linked to LCA/EOSRD and variants exclusively involving exon 11 and 12. Similarly, the variants c.2506C>A p.(Pro836Thr) and c.498_506del p.(Ile167_Gly169del) were linked to MD. Crumbs homolog 1-A must be affected for disease manifestation, while sparing of CRB1-B leads to milder phenotypes. Novel genotype-phenotype correlations were found using standardized phenotypic classification. Understanding protein structure and isoform involvement is crucial for accurate diagnosis, prognosis, and the development of targeted therapies. The authors have no proprietary or commercial interest in any materials discussed in this article.
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American journal of ophthalmologyDiscovery of rare and novel variants in inherited retinal disorders: Exome sequencing analysis of six Iranian families.
Journal of investigative medicine : the official publication of the American Federation for Clinical ResearchProgress of iPSC-derived retinal organoids in the study of inherited retinal diseases.
Orphanet journal of rare diseasesLocation and Identity of Photoreceptors Contributing to the Full-Field Stimulus Test (FST).
Investigative ophthalmology & visual scienceA novel missense TUBB4B variant outside of the canonical hotspot is associated with cone-rod dystrophy and sensorineural hearing loss.
Ophthalmic geneticsOne down but many more to go: the state of gene therapy for inherited retinal disease.
Regenerative medicineNeural Network Prediction of Keratoconus in AIPL1-Linked Leber Congenital Amaurosis: A Proof-of-Concept Pilot Study.
Journal of clinical medicineSingle-Cell Transcriptomics in Inherited Retinal Dystrophies: Current Findings and Emerging Perspectives.
GenesDecoding pediatric inherited retinal dystrophies: Bridging genetic complexity and clinical heterogeneity.
Progress in retinal and eye researchClinical Research for Inherited Retinal Disease Related Pediatric Blindness: A Preliminary Descriptive Analysis Based on ClinicalTrials.gov.
Journal of multidisciplinary healthcareDetermination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.
Investigative ophthalmology & visual scienceInnovations in mRNA-Based Nanoparticle for the Treatment of Ocular Disorders: A Comprehensive Review.
Current pharmaceutical designA survey of genotypes associated with Leber congenital amaurosis and early-onset severe retinal degeneration identified in a Singaporean patient cohort.
Ophthalmic geneticsTherapeutic potential of allogeneic iPS cell-derived RPE transplantation for RPE65-LCA.
American journal of ophthalmology case reportsConPath 2.0: an optimized consensus strategy for assessing the potential pathogenicity of hRPE65 missense variants.
Journal of molecular modelingNovel splice variants implicated in inherited retinal dystrophies in two Moroccan families.
Molecular biology reports[Analysis of clinical manifestations and genetic variants among 11 Chinese pedigrees affected with Leber congenital amaurosis].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsLeber Congenital Amaurosis.
Advances in experimental medicine and biologyClinical and Genetic Characteristics of Senior-Loken Syndrome Patients in Korea.
GenesPhenotypic and Genotypic Characterization of 171 Patients with Syndromic Inherited Retinal Diseases Highlights the Importance of Genetic Testing for Accurate Clinical Diagnosis.
GenesExploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study.
GenesSub-ciliary localization of CEP290 and effects of its loss in mouse photoreceptors during development.
Journal of cell scienceCRISPR/Cas9-mediated generation of two isogenic CEP290-mutated iPSC lines.
Stem cell researchPreventing vision loss in a mouse model of Leber Congenital Amaurosis by engineered tRNA.
bioRxiv : the preprint server for biologyGastric mucosal differentially expressed genes after bariatric surgery: Effects on sterol-related pathways.
The Journal of steroid biochemistry and molecular biologyRecovery of cone-mediated vision in Lebercilin associated retinal ciliopathy after gene therapy: One-year results of a phase I/II trial.
Molecular therapy : the journal of the American Society of Gene TherapyA Novel Pathogenic Variant in CRB1 as the Cause of Non-Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy.
American journal of medical genetics. Part AMinocycline treatment reduces the activation of mononuclear phagocytes and improves retinal function in a mouse model of Leber congenital amaurosis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieOxidative DNA Damage Drives Apoptotic Photoreceptor Loss in NMNAT1 -Associated Inherited Retinal Degeneration: A Therapeutic Opportunity.
bioRxiv : the preprint server for biologyExpansion of the ABCA4-Associated Retinopathy Spectrum: Severe Variants Can be Associated With Early-Onset Severe Retinal Dystrophy.
Investigative ophthalmology & visual scienceGeneration of two iPSC lines (UGENTi003 and UGENTi004) from patients with intermediate rod-cone dystrophy carrying the c.[-123C>T;701G>A];[806_810del] variants in the RDH12 gene.
Stem cell researchSenior-Loken Syndrome: Ocular Perspectives on Genetics, Pathogenesis, and Management.
BiomoleculesCRB1 mutations cause structural and molecular defects in patient-derived retinal pigment epithelium cells.
Experimental eye researchElevated Visual Crowding in CRB1-Associated Retinopathies: Understanding Functional Visual Deficits Using Child-Friendly Computerized Testing.
Investigative ophthalmology & visual scienceNonsyndromic Retinitis Pigmentosa With Pathogenic CEP290 Mutations.
Ophthalmic surgery, lasers & imaging retinaGenetic detection of a novel LRAT pathogenic variant in patients with early-onset severe retinal dystrophy.
Ophthalmic geneticsGenetics and phenotypes of RPE65 mutations in inherited retinal degeneration: A study from a tertiary eye care center in Brazil.
Molecular visionThe advancements in precision medicine for Leber congenital amaurosis: Breakthroughs from genetic diagnosis to therapy.
Survey of ophthalmologyClinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Journal of Korean medical scienceClinical Characteristics of Patients With Less Common Causes of Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
American journal of ophthalmologyBystander editing by adenine base editors impairs vision restoration in a mouse model of Leber congenital amaurosis.
Molecular therapy. Methods & clinical developmentUnraveling the IDH3A: Expanding the Genotypic Spectrum of Macular Pseudocoloboma.
International journal of molecular sciencesExpanding the Clinical Spectrum of CRB1-Retinopathies: A Novel Genotype-Phenotype Correlation with Macular Dystrophy and Elevated Intraocular Pressure.
International journal of molecular sciencesClinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.
Investigative ophthalmology & visual scienceSex-specific attenuation of photoreceptor degeneration by reserpine in a rhodopsin P23H rat model of autosomal dominant retinitis pigmentosa.
eLifeOphthalmic, Neurological, Radiological, and Visual Rehabilitation Profile and Outcomes in a Cohort of Patients with Joubert Syndrome.
Neuro-ophthalmology (Aeolus Press)Generation and validation of a Leber Congenital Amaurosis, Type 12 patient-specific iPSC line (LVPEIi006-B) with a splice-site mutation in RD3 and an isogenic mutation-corrected iPSC line (LVPEIi006-B-1).
Stem cell researchHuman cone photoreceptor transplantation stimulates remodeling and restores function in AIPL1 model of end-stage Leber congenital amaurosis.
Stem cell reportsAssessment of CRB1-Associated Retinopathies Using the S-MAIA Fast Protocol and Spectral-Domain Optical Coherence Tomography.
BiomedicinesDeciphering the Genetic Basis of Degenerative and Developmental Eye Disorders in 50 Pakistani Consanguineous Families Using Whole-Exome Sequencing.
International journal of molecular sciencesSystematic review of genotype-phenotype associations in CRX-associated retinal dystrophies.
BMJ open ophthalmologyDeterminants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
European journal of human genetics : EJHGCell-penetrating peptide-grafted AAV2 capsids for improved retinal delivery via intravitreal injection.
Molecular therapy. Methods & clinical developmentResveratrol Protects Photoreceptors in Mouse Models of Retinal Degeneration.
Antioxidants (Basel, Switzerland)CRISPR/Cas9-mediated generation of a homozygous CRB2 knockout H1 human embryonic stem cell line.
Stem cell researchSmall molecule treatment alleviates photoreceptor cilia defects in LCA5-deficient human retinal organoids.
Acta neuropathologica communicationsThe Connection Between Cellular Metabolism and Retinal Disease.
Advances in experimental medicine and biologyPrime Editing Strategy to Install the RPE65 c.1430A>G Dominant Mutation.
Advances in experimental medicine and biologyFrequency and Pattern of Gene Therapy Clinical Trials for Inherited Retinal Diseases.
Advances in experimental medicine and biologyCiliopathy-associated protein, CEP290, is required for ciliary necklace and outer segment membrane formation in retinal photoreceptors.
bioRxiv : the preprint server for biologyQuantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of >3500 Patients with Inherited Retinal Disease from the United Kingdom.
Ophthalmology scienceFrom bench to bedside: Developing CRISPR/Cas-based therapy for ocular diseases.
Pharmacological researchA Novel Variant in TUBB4B Causes Progressive Cone-Rod Dystrophy and Early Onset Sensorineural Hearing Loss.
Molecular genetics & genomic medicineNon-Viral Delivery Systems to Transport Nucleic Acids for Inherited Retinal Disorders.
Pharmaceuticals (Basel, Switzerland)Genotype-phenotype correlations for 17 Chinese families with inherited retinal dystrophies due to homozygous variants.
Scientific reportsA Korean Patient With Leber Congenital Amaurosis and a Homozygous RPE65 Variant Originating From a Paternal Uniparental Isodisomy.
Molecular genetics & genomic medicineInsights into the effects of subretinal voretigene neparvovec-rzyl in RPE65-associated Leber congenital amaurosis.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie"Blindness" is not a contraindication for voretigene neparvovec-rzyl treatment: a review of 9 cases.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieRabin8 phosphorylated by NDR2, the canine early retinal degeneration gene product, directs rhodopsin Golgi-to-cilia trafficking.
Journal of cell sciencePhenotypic and Genetic Heterogeneity of a Pakistani Cohort of 15 Consanguineous Families Segregating Variants in Leber Congenital Amaurosis-Associated Genes.
GenesPhosphoribosyl pyrophosphate synthetase 1 (PRPS1) associated retinal degeneration: an international study.
Ophthalmic geneticsLeber congenital amaurosis: A clinical and genetic study from a tertiary eye care center.
Indian journal of ophthalmologyClinical Characterization, Natural History, and Detailed Phenotyping of NMNAT1-Associated Leber Congenital Amaurosis.
American journal of ophthalmologyNon-viral gene therapy for Leber's congenital amaurosis: progress and possibilities.
Nanomedicine (London, England)Assessing Contrast Sensitivity Function in CRB1-Retinopathies: Exploring Child-Friendly Measures of Visual Function.
Translational vision science & technologyRetinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.
Investigative ophthalmology & visual scienceA homozygous structural variant of RPGRIP1 is frequently associated with achromatopsia in Japanese patients with IRD.
Genetics in medicine openEvaluation of mesenchymal stem cells as an in vitro model for inherited retinal diseases.
Frontiers in cell and developmental biologyInfantile Nystagmus Syndrome-Associated Inherited Retinal Diseases: Perspectives from Gene Therapy Clinical Trials.
Life (Basel, Switzerland)[Polymorphism and modern diagnostic approaches for Leber congenital amaurosis].
Vestnik oftalmologiiClinical and mutational signatures of CRB1-associated retinopathies: a multicentre study.
Journal of medical geneticsRecombinant adeno-associated virus as a delivery platform for ocular gene therapy: A comprehensive review.
Molecular therapy : the journal of the American Society of Gene TherapyBystander base editing interferes with visual function restoration in Leber congenital amaurosis.
bioRxiv : the preprint server for biologyCas9-targeted-based long-read sequencing for genetic screening of RPE65 locus.
Frontiers in geneticsGene therapy trial lights the way for patients with Leber congenital amaurosis 1.
Molecular therapy : the journal of the American Society of Gene TherapyCoats-like vasculopathy in RDH12 Leber congenital amaurosis.
Eye (London, England)Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9.
Clinical case reportsEfficacy of Intravitreal Multi-Characteristic Opsin (MCO-010) Optogenetic Gene Therapy in a Mouse Model of Leber Congenital Amaurosis.
Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and TherapeuticsMethodology for Studying Interactions of Vitamin A Membrane Receptors and Opsin Protein with their Ligands in Generating the Retinylidene Protein.
Journal of visualized experiments : JoVERetinal Proteome Profiling of Inherited Retinal Degeneration Across Three Different Mouse Models Suggests Common Drug Targets in Retinitis Pigmentosa.
Molecular & cellular proteomics : MCPA novel RPE65 variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan.
Frontiers in medicinePerturbed cell cycle phase-dependent positioning and nuclear migration of retinal progenitors along the apico-basal axis underlie global retinal disorganization in the LCA8-like mouse model.
Developmental biologyOcular genetics in the Japanese population.
Japanese journal of ophthalmologySafety and efficacy of ATSN-101 in patients with Leber congenital amaurosis caused by biallelic mutations in GUCY2D: a phase 1/2, multicentre, open-label, unilateral dose escalation study.
Lancet (London, England)Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.
Investigative ophthalmology & visual sciencePublication trends of Leber congenital amaurosis researches: a bibliometric study during 2002-2022.
International journal of ophthalmologyGeneration of two hiPSC lines carrying compound heterozygous RDH12 mutations in a LCA patient.
Stem cell researchClinical, Genetic, and Histopathological Characteristics of CRX-associated Retinal Dystrophies.
Ophthalmology. RetinaCross-species single-cell landscapes identify the pathogenic gene characteristics of inherited retinal diseases.
Frontiers in geneticsA combination treatment based on drug repurposing demonstrates mutation-agnostic efficacy in pre-clinical retinopathy models.
Nature communicationsPAM-flexible Engineered FnCas9 variants for robust and ultra-precise genome editing and diagnostics.
Nature communicationsRecent advancements and applications of ophthalmic gene therapy strategies: A breakthrough in ocular therapeutics.
Experimental eye researchGenome sequencing identifies biallelic variants in SCLT1 in a patient with syndromic nephronophthisis: Reflections on the SCLT1-related ciliopathy spectrum.
American journal of medical genetics. Part AStructure of the Ion Channel Kir7.1 and Implications for its Function in Normal and Pathophysiologic States.
bioRxiv : the preprint server for biologyFour Unique Genetic Variants in Three Genes Account for 62.7% of Early-Onset Severe Retinal Dystrophy in Chile: Diagnostic and Therapeutic Consequences.
International journal of molecular sciencesClinical and Molecular Characterization of AIPL1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
American journal of ophthalmologyWhole-Exome Sequencing in Turkish Patients with Inherited Retinal Dystrophies Reveals Novel Variants in Ten Genes.
Molecular syndromologyCompound heterozygous mutations in a mouse model of Leber congenital amaurosis reveal the role of CCT2 in photoreceptor maintenance.
Communications biologyAblation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of Cone-Tropic 9-cis-Retinal in rd12 Mouse Model of Leber Congenital Amaurosis.
The Journal of neuroscience : the official journal of the Society for NeuroscienceScreening for Autism Spectrum Disorder in Children and Adolescents With Leber's Congenital Amaurosis.
American journal of ophthalmologyClinical, Ophthalmic, and Genetic Characterization of RPGRIP1-Associated Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy.
American journal of ophthalmologyComprehensive analysis of two hotspot codons in the TUBB4B gene and associated phenotypes.
Scientific reportsClinical and genetic studies for a cohort of patients with Leber congenital amaurosis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieGeneration of two induced pluripotent stem cell lines (LVPEIi004-A and LVPEIi005-A) from probands with Leber Congenital Amaurosis 2 (LCA2) and harboring mutations in RPE65.
Stem cell researchVoretigene neparvovec for inherited retinal dystrophy due to RPE65 mutations: a scoping review of eligibility and treatment challenges from clinical trials to real practice.
Eye (London, England)Genotype-phenotype associations in CRB1 bi-allelic patients: a novel mutation, a systematic review and meta-analysis.
BMC ophthalmologyQuantification of Fundus Autofluorescence Features in a Molecularly Characterized Cohort of More Than 3500 Inherited Retinal Disease Patients from the United Kingdom.
medRxiv : the preprint server for health sciencesHuman CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.
Life science allianceCentral visual pathways affected by degenerative retinal disease before and after gene therapy.
Brain : a journal of neurologyAutosomal Recessive Rod-Cone Dystrophy with Mild Extra-Ocular Manifestations Due to a Splice-Affecting Variant in BBS9.
Current issues in molecular biologyDisease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Journal of medical geneticsGeneration of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3.
Stem cell researchAutozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform.
Clinical geneticsGenotype-Phenotype of CRB1-Associated Early-Onset Retinal Dystrophy: Novel Insights on Retinal Architecture and Therapeutic Window for Clinical Trials.
Investigative ophthalmology & visual scienceExpanding the Genotype-Phenotype Correlations and Mutational Spectrum in Inherited Retinal Diseases: Novel and Recurrent Mutations.
CureusCharacteristics of Eyes With CRB1-Associated EOSRD/LCA: Age-Related Changes.
American journal of ophthalmologyEffective AAV-mediated gene replacement therapy in retinal organoids modeling AIPL1-associated LCA4.
Molecular therapy. Nucleic acidsCRB1-associated retinal degeneration is dependent on bacterial translocation from the gut.
CellNormal vision and development in mice with low functional expression of Kir7.1 in heterozygosis for a blindness-producing mutation inactivating the channel.
American journal of physiology. Cell physiologyRPE65 mutations in Leber congenital amaurosis, early-onset severe retinal dystrophy, and retinitis pigmentosa from a tertiary eye care center in India.
Ophthalmic geneticsCould internal limiting membrane peeling before Voretigen neparvovec-ryzl subretinal injection prevent focal chorioretinal atrophy?
HeliyonThe Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort.
International journal of molecular sciencesPhenotyping 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 researchUnlocking therapeutic potential: dual gene therapy for ameliorating the disease phenotypes in a mouse model of RPE65 Leber congenital amaurosis.
Frontiers in medicineRNA-Seq Analysis of Trans-Differentiated ARPE-19 Cells Transduced by AAV9-AIPL1 Vectors.
International journal of molecular sciencesUnique phenotypic-genotypic correlation in Saudi patients with ALMS1 mutations.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyFrequency and Pattern of Worldwide Ocular Gene Therapy Clinical Trials up to 2022.
BiomedicinesHIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES: Myopic Maculopathy Analysis.
Retina (Philadelphia, Pa.)Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.
Diagnostics (Basel, Switzerland)Update on gene therapies in pediatric ophthalmology.
Archives de pediatrie : organe officiel de la Societe francaise de pediatriePatient stem cell-derived in vitro disease models for developing novel therapies of retinal ciliopathies.
Current topics in developmental biologyApplication of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Stem cell research & therapySafety and Efficacy of Adeno-Associated Viral Gene Therapy in Patients With Retinal Degeneration: A Systematic Review and Meta-Analysis.
Translational vision science & technologyCharacterization and AAV-mediated CRB gene augmentation in human-derived CRB1KO and CRB1KOCRB2+/- retinal organoids.
Molecular therapy. Methods & clinical developmentA novel pathogenic CRB1 variant presenting as Leber Congenital Amaurosis 8 and evaluation of gene editing feasibility.
Documenta ophthalmologica. Advances in ophthalmologyAn Overview of Nonclinical and Clinical Liver Toxicity Associated With AAV Gene Therapy.
Toxicologic pathologyMulti-luminance mobility testing after gene therapy in the context of retinal functional diagnostics.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieFoveal Hypoplasia in CRB1-Related Retinopathies.
International journal of molecular sciencesGene Therapy in Hereditary Retinal Dystrophies: The Usefulness of Diagnostic Tools in Candidate Patient Selections.
International journal of molecular sciencesThe Structural Abnormalities Are Deeply Involved in the Cause of RPGRIP1-Related Retinal Dystrophy in Japanese Patients.
International journal of molecular sciencesPNPLA6 disorders: what's in a name?
Ophthalmic geneticsAuthor Correction: Reduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans.
Communications biologySite-specific genome editing in treatment of inherited diseases: possibility, progress, and perspectives.
Medical review (2021)Leber congenital amaurosis as the initial and essential manifestation in a Chinese patient with autoimmune polyglandular syndrome Type 1.
Documenta ophthalmologica. Advances in ophthalmologyClinical and Genetic Characterization of RDH12-Retinal Dystrophy in a South American Cohort.
Ophthalmology. RetinaCell-based Therapies for Corneal and Retinal Disorders.
Stem cell reviews and reportsClassification and Growth Rate of Chorioretinal Atrophy after Voretigene Neparvovec-Rzyl for RPE65-Mediated Retinal Degeneration.
Ophthalmology. RetinaReduced ADP off-rate by the yeast CCT2 double mutation T394P/R510H which causes Leber congenital amaurosis in humans.
Communications biologyMetabolic changes and retinal remodeling in Heterozygous CRX mutant cats (CRXRDY/+).
Experimental eye research[Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics].
Die OphthalmologieNovel Variant IMPDH1 c.134A>G, p.(Tyr45Cys): Phenotype-Genotype Correlation Revealed Likely Benign Clinical Significance.
International journal of molecular sciencesNonviral base editing of KCNJ13 mutation preserves vision in a model of inherited retinal channelopathy.
The Journal of clinical investigationDevelopment of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants.
PeerJCRB1 is required for recycling by RAB11A+ vesicles in human retinal organoids.
Stem cell reportsA multidisciplinary approach to inherited retinal dystrophies from diagnosis to initial care: a narrative review with inputs from clinical practice.
Orphanet journal of rare diseasesBilateral exudative retinal detachments after subretinal gene therapy with voretigene neparvovec-rzyl for RPE65 Leber Congenital Amaurosis.
American journal of ophthalmology case reportsGene therapy for heart failure and cardiomyopathies.
Revista espanola de cardiologia (English ed.)Qualitative exploration of the visual function impairments and impacts on vision-dependent activities of daily living in Retinitis Pigmentosa and Leber Congenital Amaurosis: content validation of the ViSIO-PRO and ViSIO-ObsRO measures.
Journal of patient-reported outcomesComparison of Worldwide Disease Prevalence and Genetic Prevalence of Inherited Retinal Diseases and Variant Interpretation Considerations.
Cold Spring Harbor perspectives in medicineClinical, genetic, and structural characterization of a novel TUBB4B tubulinopathy.
Molecular genetics and metabolism reportsCurrent Advancements in Mouse Models of Retinal Disease.
Advances in experimental medicine and biologyGene Augmentation for Autosomal Dominant CRX-Associated Retinopathies.
Advances in experimental medicine and biologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Amaurose congênita de Leber.
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Doença com base genética
Um médico geneticista pode ajudar no diagnóstico de Amaurose congênita de Leber e no aconselhamento genético da família.
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
É uma doença genética rara da retina que acarreta grave comprometimento visual desde os primeiros meses de vida. O diagnóstico apoia-se em exames que avaliam a atividade elétrica retiniana praticamente inexistente.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
10 publicações do grafo RarasNet (PubMed) · 7 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.). Amaurose congênita de Leber. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/amaurose-congenita-de-leber
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Amaurose congênita de Leber
📋 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
- 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
- Ensaios clínicos
- fonte: ClinicalTrials.gov
