# Distrofia da retina, genética

> Página oficial: https://raras.org/doenca/distrofia-da-retina-genetica
> Fonte: Raras.org — Banco de Dados de Doenças Raras em Português (CC BY-NC-SA 4.0)
> Última atualização: 2026-05-07

## Identificadores

- **ORPHA**: 71862 — https://www.orpha.net/en/disease/detail/71862
- **OMIM**: none — https://omim.org/entry/none

## Descrição clínica

Um caso de degeneração da retina causada por uma modificação herdada do genoma do indivíduo.

## Epidemiologia e herança


## Sinais e sintomas (679 fenótipos HPO)

- **Retinopatia** — HPO: HP:0000488
- **Lesão macular hiperautofluorescente** — HPO: HP:0030631
- **Mancha algodonosa retiniana** — HPO: HP:0031606
- **Anel perifoveal de hiperautofluorescência** — HPO: HP:0030629
- **Astigmatismo misto** — HPO: HP:0031790
- **Reflexo foveal opaco** — HPO: HP:0034362
- **Calcificação intracraniana** — HPO: HP:0430048
- **Anormalidade em imagem cerebral** — HPO: HP:0410263
- **Hialose asteroide** — HPO: HP:0030672
- **Edema macular** — HPO: HP:0040049
- **Capacidade de concentração diminuída** — HPO: HP:0031987
- **Atrofia geográfica** — HPO: HP:0031609
- **Ausência de reflexo foveal** — HPO: HP:0030825
- **Acuidade visual levemente reduzida** — HPO: HP:0032037
- **Nível urinário elevado de 5-amino-4-imidazolcarboxamida-ribosídeo** — HPO: HP:0034565
- **Nível de proteína de ligação ao retinol diminuído** — HPO: HP:0031032
- **Moscas volantes** — HPO: HP:0100832
- **Vasculite cutânea** — HPO: HP:0200029
- **Lesões cutâneas de vasculite puntiforme** — HPO: HP:0200030
- **Úlcera cutânea** — HPO: HP:0200042
- **Visão ultrabaixa com percepção de luz retida** — HPO: HP:0032286
- **Fotopsia** — HPO: HP:0030786
- **Estafiloma posterior** — HPO: HP:0030856
- **Anormalidade da pigmentação do fundo de olho** — HPO: HP:0031605
- **Astigmatismo miópico** — HPO: HP:0500041
- **Habilidade atrasada de andar** — HPO: HP:0031936
- **Dentição irregular** — HPO: HP:0040079
- **Camptodactilia do dedo** — HPO: HP:0100490
- **Hipoautofluorescência perifoveal** — HPO: HP:0034272
- **Tosse produtiva** — HPO: HP:0031245
- **Fenômeno de Raynaud** — HPO: HP:0030880
- **Sobrancelha esparsa** — HPO: HP:0045075
- **Fenômeno de Mizuo** — HPO: HP:0030824
- **Atrofia peripapilar** — HPO: HP:0500087
- **Degeneração axonal** — HPO: HP:0040078
- **Escore de APGAR de 1 no 5º minuto** — HPO: HP:0030921
- **Eletrorretinograma de padrão indetectável** — HPO: HP:0030844
- **Membrana epirretiniana** — HPO: HP:0100014
- **Gangrena** — HPO: HP:0100758
- **Fundus albipunctatus** — HPO: HP:0030642
- _...e mais 639 sintomas. Ver https://raras.org/doenca/distrofia-da-retina-genetica._

## Genes associados (80)

- **ROM1** — Rod outer segment membrane protein 1 [Disease-causing germline mutation(s) in]
  - Função: Plays a role in rod outer segment (ROS) morphogenesis (By similarity). May play a role with PRPH2 in the maintenance of the structure of ROS curved disks (By similarity). Plays a role in the organizat
- **ADAM9** — Disintegrin and metalloproteinase domain-containing protein 9 [Candidate gene tested in]
  - Função: Metalloprotease that cleaves and releases a number of molecules with important roles in tumorigenesis and angiogenesis, such as TEK, KDR, EPHB4, CD40, VCAM1 and CDH5. May mediate cell-cell, cell-matri
- **OPN1LW** — Long-wave-sensitive opsin 1 [Candidate gene tested in]
  - Função: Visual pigments are the light-absorbing molecules that mediate vision. They consist of an apoprotein, opsin, covalently linked to cis-retinal
- **ARHGEF18** — Rho guanine nucleotide exchange factor 18 [Disease-causing germline mutation(s) in]
  - Função: Acts as a guanine nucleotide exchange factor (GEF) for RhoA GTPases. Its activation induces formation of actin stress fibers. Also acts as a GEF for RAC1, inducing production of reactive oxygen specie
- **RHO** — Rhodopsin [Disease-causing germline mutation(s) in]
  - Função: Photoreceptor required for image-forming vision at low light intensity (PubMed:7846071, PubMed:8107847). Required for photoreceptor cell viability after birth (PubMed:12566452, PubMed:2215617). Light-
- **CDH3** — Cadherin-3 [Candidate gene tested in]
  - Função: Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterog
- **CEP290** — Centrosomal protein of 290 kDa [Disease-causing germline mutation(s) in]
  - Função: Involved in early and late steps in cilia formation. Its association with CCP110 is required for inhibition of primary cilia formation by CCP110 (PubMed:18694559). May play a role in early ciliogenesi
- **ABCA4** — Retinal-specific phospholipid-transporting ATPase ABCA4 [Disease-causing germline mutation(s) in]
  - Função: Flippase that catalyzes in an ATP-dependent manner the transport of retinal-phosphatidylethanolamine conjugates like 11-cis and all-trans isomers of N-retinylidene-phosphatidylethanolamine (N-Ret-PE)
- **RPGR** — X-linked retinitis pigmentosa GTPase regulator [Disease-causing germline mutation(s) in]
  - Função: Acts as a guanine-nucleotide releasing factor (GEF) for RAB8A and RAB37 by promoting the conversion of inactive RAB-GDP to the active form RAB-GTP (PubMed:20631154). GEF activity towards RAB8A may fac
- **AHR** — Aryl hydrocarbon receptor [Candidate gene tested in]
  - Função: Ligand-activated transcription factor that enables cells to adapt to changing conditions by sensing compounds from the environment, diet, microbiome and cellular metabolism, and which plays important
- **TINF2** — TERF1-interacting nuclear factor 2 [Disease-causing germline mutation(s) in]
  - Função: Component of the shelterin complex (telosome) that is involved in the regulation of telomere length and protection. Shelterin associates with arrays of double-stranded TTAGGG repeats added by telomera
- **BBS2** — BBSome complex member BBS2 [Candidate gene tested in]
  - Função: The BBSome complex is thought to function as a coat complex required for sorting of specific membrane proteins to the primary cilia. The BBSome complex is required for ciliogenesis but is dispensable
- **IDH3A** — Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial [Candidate gene tested in]
  - Função: Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the hetero
- **ARL6** — ADP-ribosylation factor-like protein 6 [Disease-causing germline mutation(s) in]
  - Função: Involved in membrane protein trafficking at the base of the ciliary organelle. Mediates recruitment onto plasma membrane of the BBSome complex which would constitute a coat complex required for sortin
- **TOPORS** — E3 ubiquitin-protein ligase Topors [Disease-causing germline mutation(s) in]
  - Função: Functions as an E3 ubiquitin-protein ligase and as an E3 SUMO1-protein ligase. Probable tumor suppressor involved in cell growth, cell proliferation and apoptosis that regulates p53/TP53 stability thr

## Medicamentos em desenvolvimento (8)

- PEGAPTANIB SODIUM — Fase Phase 4 (Vascular endothelial growth factor A antagonist)
- RANIBIZUMAB — Fase Phase 4 (Vascular endothelial growth factor A inhibitor)
- AFLIBERCEPT — Fase Phase 4 (Placenta growth factor inhibitor)
- BROLUCIZUMAB — Fase Phase 4 (Vascular endothelial growth factor A inhibitor)
- FARICIMAB — Fase Phase 4 (Angiopoietin-2 inhibitor)
- VORETIGENE NEPARVOVEC — Fase Phase 4 (Retinoid isomerohydrolase exogenous gene)
- BEVACIZUMAB — Fase Phase 3 (Vascular endothelial growth factor A inhibitor)
- TRIAMCINOLONE ACETONIDE — Fase Phase 3 (Glucocorticoid receptor agonist)
- Fonte: https://platform.opentargets.org/disease/MONDO_0019118

## Doenças relacionadas (por similaridade fenotípica)

- [Retinite pigmentosa](https://raras.org/doenca/retinite-pigmentosa) — ORPHA:791 — 138 sintomas em comum
- [Amaurose congênita de Leber](https://raras.org/doenca/amaurose-congenita-de-leber) — ORPHA:65 — 93 sintomas em comum
- [Síndrome de microcefalia-linfedema-coriorretinopatia](https://raras.org/doenca/sindrome-de-microcefalia-linfedema-coriorretinopatia) — ORPHA:2526 — 92 sintomas em comum
- [Ataxia espástica](https://raras.org/doenca/ataxia-espastica) — ORPHA:316226 — 85 sintomas em comum
- [Distrofia dos cones e bastonetes](https://raras.org/doenca/distrofia-dos-cones-e-bastonetes) — ORPHA:1872 — 83 sintomas em comum
- [Uveíte](https://raras.org/doenca/uveite) — ORPHA:98715 — 82 sintomas em comum
- [Doença do metabolismo da ornitina](https://raras.org/doenca/doenca-do-metabolismo-da-ornitina) — ORPHA:289869 — 81 sintomas em comum
- [Síndrome Walker-Warburg](https://raras.org/doenca/899) — ORPHA:899 — 78 sintomas em comum
- [Encefalopatia epiléptica de início precoce inespecífica](https://raras.org/doenca/encefalopatia-epileptica-de-inicio-precoce-inespecifica) — ORPHA:442835 — 76 sintomas em comum
- [Síndrome White-Sutton](https://raras.org/doenca/sindrome-white-sutton) — ORPHA:468678 — 76 sintomas em comum

## Importante

O Raras **não diagnostica e não prescreve**. Esta página é educativa e informativa.
Pacientes devem consultar profissionais de saúde qualificados para decisões clínicas.

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**Citação sugerida**: Raras.org — Distrofia da retina, genética. Disponível em: https://raras.org/doenca/distrofia-da-retina-genetica
**Formato HTML**: https://raras.org/doenca/distrofia-da-retina-genetica
**Formato RDF/Turtle**: https://raras.org/api/rdf?orpha=71862