Retinitis Pigmentosa 82 with or without Situs Inversus

Alternative Names

  • RP82
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

615434

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16q13

Description

Retinitis pigmentosa (RP) is a clinically and genetically heterogeneous group of disorders characterized by progressive loss of vision and night-blindness. RP82 is an autosomal recessive conditon caused by mutations in the ARL2BP gene. 

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
615434.1.1MoroccoFemaleYesYes Rod-cone dystrophy ; Best corrected vis...NM_012106.3:c.207+1G>THomozygousAutosomal, RecessiveAudo et al, 2017
615434.1.2MoroccoFemaleYesYes Rod-cone dystrophy ; Best corrected vis...NM_012106.3:c.207+1G>THomozygousAutosomal, RecessiveAudo et al, 2017 Sibling of 615434.1....
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