Occult Macular Dystrophy

Alternative Names

  • OCMD
  • OMD

Associated Genes

RP1-Like Protein 1
Back to search Result
WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

613587

Gene Map Locus

8p23.1

Description

Occult macular dystrophy is characterized by progressive decline of visual acuity in both eyes, associated with a normal fundus and normal fluorescein angiography. Patients have normal full-field electroretinograms (ERGs) but severely reduced focal macular ERGs, as recorded by conventional techniques using small stimuli under background illumination. OCMD patients are believed to have localized retinal dysfunction distal to the ganglion cells in the central retina. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613587.1LebanonUnknownNo Microphthalmia; Slow decrease in visual ...NM_178857.6:c.5484G>CHeterozygousAutosomal, DominantJalkh et al. 2019 Parents from the sam...
© CAGS 2024. All rights reserved.