Retinitis Pigmentosa 13

Alternative Names

  • RP13
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

600059

Mode of Inheritance

Autosomal dominant

Gene Map Locus

17p13.3

Description

RP13 is an autosomal dominant disorder characterised by nyctalopia (night blindness) and retinal degeneration. Considerable heterogeneity in clinical features were noted among patients, varying from severe rod-cone dystrophy to normal retinal appearance. RP13 is caused by heterozygous mutations in PRPF8 gene.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
600059.1ArabMale Rod-cone dystrophy... NM_006445.4:c.6928A>GHeterozygousAutosomal, DominantKhan. 2020
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