Cone-Rod Dystrophy, X-Linked, 3

Alternative Names

  • CORDX3
Back to search Result
WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

300476

Mode of Inheritance

X-linked recessive

Gene Map Locus

Xp11.23

Description

X-linked cone-rod dystrophy is a rare, progressive visual disorder primarily affecting cone photoreceptors. Affected individuals, essentially all of whom are males, present with decreased visual acuity, myopia, photophobia, abnormal color vision, full peripheral visual fields, decreased photopic electroretinographic responses, and granularity of the macular retinal pigment epithelium. The degree of rod photoreceptor involvement is variable, with increasing degeneration. Although penetrance appears to be nearly 100%, there is variable expressivity with respect to age at onset, severity of symptoms, and findings. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
300476.1Saudi ArabiaUnknownNo Cone/cone-rod dystrophy; Photophobia; Ab...NM_001256789.3:c.1870G>AHomozygousX-linked, RecessivePatel et al. 2016
© CAGS 2024. All rights reserved.