Retinitis Pigmentosa 28

Alternative Names

  • RP28
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

606068

Mode of Inheritance

Autosomal recessive

Gene Map Locus

2p15

Description

Retinitis Pigmentosa (RP) is an inherited retinal dystrophy that is characterized by retinal degeneration and progressive vision loss in affected individuals.  The disorder is caused by the gradual atrophy of the photoreceptor cells in the retina.  Patients initially lose their rod photoreceptors, resulting in night vision loss (nyctalopia) and subsequently peripheral vision loss (tunnel vision).  As the disease progresses, cone photoreceptors are affected, leading to problems with color vision, visual acuity and loss of the central visual field.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
606068.G.1Saudi ArabiaUnknownYes Rod-cone dystrophyNM_001201543.2:c.685C>THomozygousAutosomal, RecessivePatel et al. 2016 Family with unknown ...
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