Retinitis Pigmentosa 41

Alternative Names

  • RP41
  • Retinal Degeneration, Autosomal Recessive, Prominin-Related

Associated Genes

Prominin 1
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

612095

Mode of Inheritance

Autosomal recessive

Gene Map Locus

4p15.32

Description

Retinitis pigmentosa (RP) refers to a group of inherited retinal dystrophy that affects the photoreceptors and retinal pigment epithelium; resulting in blindness usually after several decades.  Prevalence of RP is approximately 1/3,000 to 1/5,000.  There is broad variability in age of onset, rate of progression and secondary clinical manifestations.  The first sign of retinitis pigmentosa is usually a loss of night vision (nyctalopia) due to loss of rod function, which becomes apparent in adolescence or earlier.  Later, patients develop peripheral visual field impairment, and overtime loss of central vision, usually at late stages, often around adulthood.  Clinical diagnosis of RP is based on the presence of night blindness and peripheral visual field defects, lesions in the fundus, hypovolted electroretinogram traces, and decreased or abolished responses as measured by electroretinography (ERG).  To date, there are no proven or effective cures for RP.  Treatment is primarily aimed at slowing progression of the disease by sunlight protection and vitamin therapy, treating the complications (cataract and macular edema), and helping patients to cope with the social and psychological impact of blindness.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
612095.1.1Saudi ArabiaMaleYes Rod-cone dystrophyNM_006017.3:c.2130+2delHomozygousAutosomal, RecessivePatel et al. 2016
612095.1.2Saudi ArabiaMaleYes Rod-cone dystrophyNM_006017.3:c.2130+2delHeterozygousAutosomal, RecessivePatel et al. 2016 Heterozygous, less s...
612095.2Saudi ArabiaUnknownNo Rod-cone dystrophyNM_006017.3:c.604C>GHomozygousAutosomal, RecessivePatel et al. 2016
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