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Degenerescência retiniana de início tardio
ORPHA:67042CID-10 · H35.5CID-11 · 9B70OMIM 605670DOENÇA RARA

A Degeneração Retiniana de Início na Vida Adulta é uma doença hereditária da retina (ou seja, passada de pais para filhos) caracterizada por dificuldade de adaptação ao escuro e cegueira noturna, e pela formação de drusas (pequenos depósitos) na retina que surgem na idade adulta. Em seguida, ocorre uma degeneração das células responsáveis pela visão (os cones e bastonetes) que se manifesta por volta dos 50-60 anos de idade, resultando na perda da visão central. Alterações na parte da frente do olho também são observadas, como áreas mais finas na íris (a parte colorida do olho) ao redor da pupila, que deixam a luz passar (defeito de transiluminação), e as zônulas (fibras que seguram a lente natural do olho, o cristalino) que se inserem de forma anormalmente longa na parte da frente. Em estágios avançados da doença, podem ocorrer a formação de novos vasos sanguíneos anormais sob a retina (chamada neovascularização da coroide) e glaucoma.

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Introdução

O que você precisa saber de cara

📋

A Degeneração Retiniana de Início na Vida Adulta é uma doença hereditária da retina (ou seja, passada de pais para filhos) caracterizada por dificuldade de adaptação ao escuro e cegueira noturna, e pela formação de drusas (pequenos depósitos) na retina que surgem na idade adulta. Em seguida, ocorre uma degeneração das células responsáveis pela visão (os cones e bastonetes) que se manifesta por volta dos 50-60 anos de idade, resultando na perda da visão central. Alterações na parte da frente do olho também são observadas, como áreas mais finas na íris (a parte colorida do olho) ao redor da pupila, que deixam a luz passar (defeito de transiluminação), e as zônulas (fibras que seguram a lente natural do olho, o cristalino) que se inserem de forma anormalmente longa na parte da frente. Em estágios avançados da doença, podem ocorrer a formação de novos vasos sanguíneos anormais sob a retina (chamada neovascularização da coroide) e glaucoma.

Pesquisas ativas
2 ensaios
8 total registrados no ClinicalTrials.gov
Publicações científicas
84 artigos
Último publicado: 2026 Mar 15

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Adult
+ elderly
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: H35.5
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
17 sintomas
❤️
Coração
1 sintomas

+ 12 sintomas em outras categorias

Características mais comuns

90%prev.
Teste de acuidade visual corrigida anormal
Muito frequente (99-80%)
55%prev.
Atrofia em placas do epitélio pigmentar da retina
Frequente (79-30%)
55%prev.
Depósitos subretinianos multifocais
55%prev.
Drusas
Frequente (79-30%)
55%prev.
Perda visual
Frequente (79-30%)
55%prev.
Acuidade visual severamente reduzida
Frequente (79-30%)
30sintomas
Muito frequente (1)
Frequente (10)
Ocasional (10)
Muito raro (2)
Sem dados (7)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 30 características clínicas mais associadas, ordenadas por frequência.

Teste de acuidade visual corrigida anormalAbnormal best corrected visual acuity test
Muito frequente (99-80%)90%
Atrofia em placas do epitélio pigmentar da retinaPatchy atrophy of the retinal pigment epithelium
Frequente (79-30%)55%
Depósitos subretinianos multifocaisMultifocal subretinal deposits
Frequente55%
DrusasDrusen
Frequente (79-30%)55%
Perda visualVisual loss
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico84PubMed
Últimos 10 anos62publicações
Pico202312 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico📈 2023Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

C1QTNF5Complement C1q tumor necrosis factor-related protein 5Disease-causing germline mutation(s) inModerado
LOCALIZAÇÃO

Secreted

MECANISMO DE DOENÇA

Late-onset retinal degeneration

Autosomal dominant disorder characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits in the retinal fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy.

INTERAÇÕES PROTEICAS (1)
OUTRAS DOENÇAS (1)
late-onset retinal degeneration
HGNC:14344UniProt:Q9BXJ0

Variantes genéticas (ClinVar)

116 variantes patogênicas registradas no ClinVar.

🧬 C1QTNF5: NM_031433.4(MFRP):c.515G>A (p.Trp172Ter) ()
🧬 C1QTNF5: NM_031433.4(MFRP):c.482_483insTA (p.Asp162fs) ()
🧬 C1QTNF5: NM_031433.4(MFRP):c.666dup (p.Thr223fs) ()
🧬 C1QTNF5: GRCh37/hg19 11q23.3-24.2(chr11:115887338-126148523)x3 ()
🧬 C1QTNF5: NM_031433.4(MFRP):c.47C>A (p.Ser16Ter) ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 95 variantes classificadas pelo ClinVar.

14
76
5
Patogênica (14.7%)
VUS (80.0%)
Benigna (5.3%)
VARIANTES MAIS SIGNIFICATIVAS
C1QTNF5: NM_001278431.2(C1QTNF5):c.562C>A (p.Pro188Thr) [Pathogenic/Likely pathogenic]
C1QTNF5: NM_001278431.2(C1QTNF5):c.354G>A (p.Pro118=) [Conflicting classifications of pathogenicity]
C1QTNF5: NM_031433.4(MFRP):c.898+5G>A [Conflicting classifications of pathogenicity]
C1QTNF5: NM_001278431.2(C1QTNF5):c.142G>A (p.Gly48Ser) [Uncertain significance]
C1QTNF5: NM_001278431.2(C1QTNF5):c.434G>A (p.Cys145Tyr) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Degenerescência retiniana de início tardio

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Selecione um estado ou use sua localização para ver resultados.

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Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
59 papers (10 anos)
#1

Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

Ophthalmic genetics2026 Mar 15

We report two ethnic Chinese families affected by distinct drusenoid inherited maculopathies: Doyne Honeycomb Retinal Dystrophy (DHRD) and Late-Onset Retinal Degeneration (L-ORD)-to expand their recognized phenotypic and ethnic spectrum. Affected members underwent multimodal ophthalmic imaging, including fundus photography, autofluorescence, optical coherence tomography, and widefield imaging. Genetic testing involved whole exome and targeted sequencing with haplotype and ancestry analysis. In the DHRD family, two members demonstrated peripapillary drusen, while one also had subretinal drusenoid deposits with minimal progression and no evidence of choroidal neovascularization (CNV). In the L-ORD family, two individuals showed progressive ellipsoid zone loss, outer retinal atrophy, and CNV with spontaneous regression. Pathogenic variants EFEMP1 c.1033C > T (p.Arg345Trp) and C1QTNF5 c.489C > G (p.Ser163Arg) were identified in the DHRD and L-ORD families, respectively. Genetic ancestry revealed no evidence of European admixture. DHRD and L-ORD, although originally believed to originate from European founder variants, are now established as probable mutational hotspots. We have now uncovered the first known family with DHRD in Southeast Asia, and the first L-ORD family without European heritage. Early recognition of inherited retinal diseases should be considered in patients with atypical drusen and family history of vision loss.

#2

iPSC-derived retinal pigment epithelium: an in vitro platform to reproduce key cellular phenotypes and pathophysiology of retinal degenerative diseases.

Stem cells translational medicine2025 Mar 18

Retinal pigment epithelium (RPE) atrophy is a significant cause of human blindness worldwide, occurring in polygenic diseases such as age-related macular degeneration (AMD) and monogenic diseases such as Stargardt diseases (STGD1) and late-onset retinal degeneration (L-ORD). The patient-induced pluripotent stem cells (iPSCs)-derived RPE (iRPE) model exhibits many advantages in understanding the cellular basis of pathological mechanisms of RPE atrophy. The iRPE model is based on iPSC-derived functionally mature and polarized RPE cells that reproduce several features of native RPE cells, such as phagocytosis of photoreceptor outer segments (POS) and replenishment of visual pigment. When derived from patients, iRPE are able to recapitulate critical cellular phenotypes of retinal degenerative diseases, such as the drusen-like sub-RPE deposits in the L-ORD and AMD models; lipid droplets and cholesterol accumulation in the STGD1 and AMD models. The iRPE model has helped discover the unexpected role of RPE in understanding retinal degenerative diseases, such as a cell-autonomous function of ABCA4 in STGD1. The iRPE model has helped uncover the pathological mechanism of retinal degenerative diseases, including the roles of alternate complement cascades and oxidative stress in AMD pathophysiology, abnormal POS processing in STGD1 and L-ORD, and its association with lipid accumulation. These studies have helped better understand-the role of RPE in retinal degenerative diseases, and molecular mechanisms underlying RPE atrophy, and have provided a basis to discover therapeutics to target RPE-associated diseases.

#3

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

Journal of medical genetics2025 Oct 20

Inherited retinal diseases (IRDs) are a group of disorders often resulting in progressive vision loss, ultimately leading to blindness. A significant portion of their genetic causes remain unresolved, partly due to undiscovered disease-associated genes or variants. This study aimed to identify novel genetic links to IRDs. All patients underwent comprehensive ophthalmological evaluation, including retinal imaging (fundus autofluorescence and macular optical coherence tomography) and electroretinogram testing. Whole exome sequencing and whole genome sequencing were performed on patients with clinically unsolved IRD, and data were analysed using an in-house pipeline to identify causal variants. Subsequently, Sanger sequencing was performed to confirm identified variants. Three unrelated patients from Europe, Middle East and East Asia were identified with unique late-onset retinal degeneration (Stargardt-like phenotype) associated with biallelic loss-of-function (LoF) variants in C19orf44 (HGNC: 26141), a gene of unknown function. The homozygous variant NM_032207.2:c.549_550del;p.Ser185Profs*2 was identified in two unrelated patients (European and Middle Eastern). Moreover, an East Asian patient had likely compound heterozygous LoF variants (NM_032207.2:c.1168C>T;p.Gln390*/c.976_977del;p.Leu326Lysfs*15). Our findings establish C19orf44 as a novel disease-causing gene for IRD with Stargardt-like phenotype, expanding the genetic landscape of retinal degeneration.

#4

Late-Onset Retinal Degeneration.

Advances in experimental medicine and biology2025

Patients with late-onset retinal degeneration (LORD) usually present with nyctalopia in the fifth or sixth decade of life. The fundus shows yellowish-white, punctate deposits, usually progressive and giving rise to scalloped areas of retinal pigment epithelium (RPE) atrophy in the mid-periphery and posterior pole (Fig. 23.1). The anterior segment shows elongated zonules with central lens insertion and transillumination defect in the iris, due to iris atrophy.

#5

C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy.

Ophthalmic genetics2025 Aug

It was recently proposed that the c.538C>G; p.(Q180E) missense variant in the C1QTNF5 gene leads to autosomal dominant gyrate atrophy-like choroidal dystrophy (adGALCD). AdGALCD has a phenotypic overlap with other chorioretinal dystrophies but exhibits not the typical characteristics of late-onset retinal degeneration (L-ORD). Here, we report a 70-year-old female simplex patient with adGALCD. Comprehensive ophthalmic examinations included visual field testing and multimodal retinal imaging with optical coherence tomography (OCT), short-wavelength-, and near-infrared fundus autofluorescence. Genetic testing was performed using whole exome sequencing. The patient presented with bilateral progressive concentric visual field defects and photophobia for about 8 years. Best corrected visual acuity was 20/40 in the right and 20/32 in the left eye, respectively. On fundus examination, symmetric areas of large peripheral and peripapillary chorioretinal atrophy with foveal sparing were observed with corresponding visual field defects. Fundus autofluorescence imaging showed a central island of preserved autofluorescence surrounded by an extinguished signal in the atrophic areas. OCT imaging showed preserved central retinal pigment epithelium and ellipsoid zone with peripapillary and peripheral atrophy of both layers. Genetic testing revealed a heterozygous missense variant p.(Q180E) in the C1QTNF5 gene. We confirm that the c.538C>G; p.(Q180E) missense variant in the C1QTNF5 gene may lead to adGALCD.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC45 artigos no totalmostrando 61

2026

Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.

Ophthalmic genetics
2025

Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.

Journal of medical genetics
2025

Late-Onset Retinal Degeneration.

Advances in experimental medicine and biology
2025

C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy.

Ophthalmic genetics
2025

Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.

Advances in experimental medicine and biology
2025

iPSC-derived retinal pigment epithelium: an in vitro platform to reproduce key cellular phenotypes and pathophysiology of retinal degenerative diseases.

Stem cells translational medicine
2023

Treatment Strategy With Gene Editing for Late-Onset Retinal Degeneration Caused by a Founder Variant in C1QTNF5.

Investigative ophthalmology &amp; visual science
2024

An incipient late-onset retinal degeneration with a C1QTNF5 mutation: a case report with an 11-year follow-up.

Documenta ophthalmologica. Advances in ophthalmology
2023

Longitudinal Changes of Retinal Structure in Molecularly Confirmed C1QTNF5 Patients With Late-Onset Retinal Degeneration.

Translational vision science &amp; technology
2023

Application of Electrophysiology in Non-Macular Inherited Retinal Dystrophies.

Journal of clinical medicine
2023

Outer retinal corrugations in late-onset retinal degeneration: a diagnostic finding demonstrated with multimodal imaging.

BMJ open ophthalmology
2023

LipidUNet-Machine Learning-Based Method of Characterization and Quantification of Lipid Deposits Using iPSC-Derived Retinal Pigment Epithelium.

Journal of visualized experiments : JoVE
2024

Macular neovascularization in inherited retinal diseases: A review.

Survey of ophthalmology
2023

A Novel Mouse Model for Late-Onset Retinal Degeneration (L-ORD) Develops RPE Abnormalities Due to the Loss of C1qtnf5/Ctrp5.

Advances in experimental medicine and biology
2023

MICROPERIMETRY IN FOVEAL-SPARING ATROPHIC LATE-ONSET RETINAL DEGENERATION.

Retina (Philadelphia, Pa.)
2024

MACULAR NEOVASCULARIZATION IN A CASE OF LATE-ONSET RETINAL DEGENERATION TREATED WITH AFLIBERCEPT.

Retinal cases &amp; brief reports
2023

Establishment and characterization of an iPSC line (UCLi023-A) derived from a Late-Onset Retinal Degeneration patient carrying a founder mutation in C1QTNF5.

Stem cell research
2023

Anterior segment phenotypic changes in late-onset retinal degeneration with Ser163Arg mutation in CTRP5/C1QTNF5.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2023

Extensive temporal subretinal drusenoid deposits as an early manifestation of late-onset retinal degeneration.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2023

Homozygous Knockout of Cep250 Leads to a Relatively Late-Onset Retinal Degeneration and Sensorineural Hearing Loss in Mice.

Translational vision science &amp; technology
2022

Application of multicolour reflectance imaging for the characterisation of inherited retinal disorders.

European journal of ophthalmology
2023

Distinct Phenotypic Consequences of Pathogenic Mutants Associated with Late-Onset Retinal Degeneration.

The American journal of pathology
2022

Late-Onset Retinal Degeneration: Clinical Perspectives.

Clinical ophthalmology (Auckland, N.Z.)
2022

Specific ablation of Hippo signalling component Yap1 in retinal progenitors and Müller cells results in late onset retinal degeneration.

Journal of cellular physiology
2022

Single-cell-resolution map of human retinal pigment epithelium helps discover subpopulations with differential disease sensitivity.

Proceedings of the National Academy of Sciences of the United States of America
2021

AMPK modulation ameliorates dominant disease phenotypes of CTRP5 variant in retinal degeneration.

Communications biology
2021

MASSIVE ADVANCING NONEXUDATIVE TYPE 1 CHOROIDAL NEOVASCULARIZATION IN CTRP5 LATE-ONSET RETINAL DEGENERATION: Longitudinal Findings on Multimodal Imaging and Implications for Age-Related Macular Degeneration.

Retina (Philadelphia, Pa.)
2021

Longitudinal phenotypic study of late-onset retinal degeneration due to a founder variant c.562C>A p.(Pro188Thr) in the C1QTNF5 gene.

Ophthalmic genetics
2021

Autosomal Dominant Gyrate Atrophy-Like Choroidal Dystrophy Revisited: 45 Years Follow-Up and Association with a Novel C1QTNF5 Missense Variant.

International journal of molecular sciences
2021

Reticular Pseudodrusen in Late-Onset Retinal Degeneration.

Ophthalmology. Retina
2021

QUANTITATIVE ANALYSIS OF LONGITUDINAL CHANGES IN MULTIMODAL IMAGING OF LATE-ONSET RETINAL DEGENERATION.

Retina (Philadelphia, Pa.)
2021

CHARACTERIZING THE NATURAL HISTORY OF FOVEAL-SPARING ATROPHIC LATE-ONSET RETINAL DEGENERATION.

Retina (Philadelphia, Pa.)
2022

THE PROGRESSION OF MACULAR STRUCTURAL AND FUNCTIONAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.

Retinal cases &amp; brief reports
2020

Quantifying the Separation Between the Retinal Pigment Epithelium and Bruch's Membrane using Optical Coherence Tomography in Patients with Inherited Macular Degeneration.

Translational vision science &amp; technology
2019

Studies of the Periciliary Membrane Complex in the Syrian Hamster Photoreceptor.

Advances in experimental medicine and biology
2019

Missense variants in the conserved transmembrane M2 protein domain of KCNJ13 associated with retinovascular changes in humans and zebrafish.

Experimental eye research
2019

Late-onset retinal degeneration pathology due to mutations in CTRP5 is mediated through HTRA1.

Aging cell
2019

Late-onset night blindness with peripheral flecks accompanied by progressive trickle-like macular degeneration.

Documenta ophthalmologica. Advances in ophthalmology
2019

Choroidal Neovascularization in Late-Onset Retinal Macular Degeneration.

Ophthalmology. Retina
2019

Longitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients.

JCI insight
2019

Phagosomal and mitochondrial alterations in RPE may contribute to KCNJ13 retinopathy.

Scientific reports
2019

Multimodal imaging of late-onset retinal degeneration complicated by bilateral choroidal neovascularization.

Eye (London, England)
2018

Mouse Idh3a mutations cause retinal degeneration and reduced mitochondrial function.

Disease models &amp; mechanisms
2018

Cone Photoreceptor Cell Segmentation and Diameter Measurement on Adaptive Optics Images Using Circularly Constrained Active Contour Model.

Investigative ophthalmology &amp; visual science
2018

Whole-exome sequencing revealed HKDC1 as a candidate gene associated with autosomal-recessive retinitis pigmentosa.

Human molecular genetics
2018

Usherin defects lead to early-onset retinal dysfunction in zebrafish.

Experimental eye research
2018

Co-Expression of Wild-Type and Mutant S163R C1QTNF5 in Retinal Pigment Epithelium.

Advances in experimental medicine and biology
2017

Novel pathogenic mutations in C1QTNF5 support a dominant negative disease mechanism in late-onset retinal degeneration.

Scientific reports
2017

Cataract surgery in patients with late-onset retinal degeneration.

Journal of cataract and refractive surgery
2017

Absence of Sigma 1 Receptor Accelerates Photoreceptor Cell Death in a Murine Model of Retinitis Pigmentosa.

Investigative ophthalmology &amp; visual science
2017

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

American journal of human genetics
2016

LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.

Retina (Philadelphia, Pa.)
2016

Distinct Genetic Risk Profile of the Rapidly Progressing Diffuse-Trickling Subtype of Geographic Atrophy in Age-Related Macular Degeneration (AMD).

Investigative ophthalmology &amp; visual science
2016

Loss of CTRP5 improves insulin action and hepatic steatosis.

American journal of physiology. Endocrinology and metabolism
2016

Canine genome assembly correction facilitates identification of a MAP9 deletion as a potential age of onset modifier for RPGRIP1-associated canine retinal degeneration.

Mammalian genome : official journal of the International Mammalian Genome Society
2015

Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium.

Investigative ophthalmology &amp; visual science
2016

A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.

The British journal of ophthalmology
2015

Application of Whole Exome Sequencing in Six Families with an Initial Diagnosis of Autosomal Dominant Retinitis Pigmentosa: Lessons Learned.

PloS one
2015

Improvement of retinal function in L-ORD after prolonged dark adaptation.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2015

[Management of a choroidal neovascular membrane with aflibercept in a patient with a rare, autosomal dominant late-onset retinal degeneration: case report].

Journal francais d'ophtalmologie
2015

Presence of rd8 mutation does not alter the ocular phenotype of late-onset retinal degeneration mouse model.

Molecular vision

Associações

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Comunidades

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

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.

  1. Drusenoid macular dystrophies in Singaporean Chinese: first report of Doyne honeycomb retinal dystrophy and late-onset retinal degeneration from Southeast Asia.
    Ophthalmic genetics· 2026· PMID 41834303mais citado
  2. iPSC-derived retinal pigment epithelium: an in vitro platform to reproduce key cellular phenotypes and pathophysiology of retinal degenerative diseases.
    Stem cells translational medicine· 2025· PMID 39729520mais citado
  3. Biallelic loss-of-function variants in C19orf44 lead to retinal degeneration.
    Journal of medical genetics· 2025· PMID 40744518mais citado
  4. Late-Onset Retinal Degeneration.
    Advances in experimental medicine and biology· 2025· PMID 40736825mais citado
  5. C1QTNF5 missense variant causing autosomal dominant gyrate atrophy-like choroidal dystrophy.
    Ophthalmic genetics· 2025· PMID 40366714mais citado
  6. Late-Onset Retinal Degeneration: Clinical Features and C1QTNF5/CTRP5 Function.
    Adv Exp Med Biol· 2025· PMID 39930246recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:67042(Orphanet)
  2. OMIM OMIM:605670(OMIM)
  3. MONDO:0011579(MONDO)
  4. GARD:4357(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q32136602(Wikidata)

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

Degenerescência retiniana de início tardio
Compêndio · Raras BR

Degenerescência retiniana de início tardio

ORPHA:67042 · MONDO:0011579
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
H35.5 · Distrofias hereditárias da retina
CID-11
Ensaios
2 ativos
Início
Adult, Elderly
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1854065
EuropePMC
Wikidata
Papers 10a
DiscussaoAtiva

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