Retinitis Pigmentosa 40

Alternative Names

  • RP40
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

613801

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4p16.3

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

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
613801.1Saudi ArabiaUnknownNoYes Rod-cone dystrophyNM_000283.3:c.992+1G>AHomozygousAutosomal, RecessivePatel et al, 2018
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