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OCCULT MACULAR DYSTROPHY [1 record]

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Record 1 2025-08-27

English

Subject field(s)
  • Visual Disorders
CONT

Occult macular dystrophy (OMD), also known as Miyake's disease, is an aptly named inherited macular disorder characterized by poor central acuity despite a normal-appearing fundus, FA [fluorescein angiography], and full-field ERG [electroretinogram]. ... OMD typically exhibits an autosomal dominant form of inheritance due to mutations in the retinitis pigmentosa 1-like 1 (RP1L1) gene located on the short arm of chromosome 8.

Key term(s)
  • Miyake disease

French

Domaine(s)
  • Troubles de la vision
CONT

Dystrophie maculaire occulte («occult macular dystrophy»). [...] affection rare, caractérisée par une baisse progressive de l'acuité visuelle malgré un fond d'œil normal. [...] Mutations dans le gène «retinitis pigmentosa 1-like protein 1 gene (RP1L1)» sur le chromosome 8p23.1. [...] Transmission [autosomique] dominante.

Spanish

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