Retinitis Pigmentosa 39

Alternative Names

  • RP39

Associated Genes

USH2A gene
Back to search Result
WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

613809

Gene Map Locus

1q41

Description

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration affecting 1 in 3,000 to 5,000 people. [From OMIM]

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613809.G.1JordanUnknownYesYes Rod-cone dystrophy; Visual impairmentNM_206933.2:c.1923T>AHeterozygousAutosomal, RecessivePatel et al, 2018 2 members of a famil...
613809.G.2Saudi ArabiaUnknownYesYes Rod-cone dystrophy; Visual impairmentNM_206933.2:c.4033G>CHomozygousAutosomal, RecessivePatel et al, 2018 3 members of a famil...
© CAGS 2024. All rights reserved.