Retinitis Pigmentosa 80

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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

617781

Mode of Inheritance

Autosomal recessive

Gene Map Locus

16p13.3

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
617781.1Saudi ArabiaMaleNoYes Visual impairment; Nystagmus; Happy ...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016
617781.2Saudi ArabiaFemaleNoYes Visual impairment; Nystagmus; Happy ...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016
617781.3Saudi ArabiaMaleNoYes Visual impairment; Nystagmus; Happ...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016
617781.4Saudi ArabiaFemaleNoYes Visual impairment; Nystagmus; ...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016
617781.5Saudi ArabiaFemaleNoYes Visual impairment; Nystagmus; Oculodig...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016
617781.6Saudi ArabiaMaleNoYes Visual impairment; NystagmusNM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016
617781.7Saudi ArabiaMaleNoYes Visual impairment; Nystagmus; Ha...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016; Khan et al, 2014
617781.8Saudi ArabiaMaleNoYes Visual impairment; Nystagmus; Ha...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016; Khan et al, 2014
617781.9Saudi ArabiaFemaleYesYes Visual impairment; Nystagmus; Gl...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016 The patient had two ...
617781.10.1Saudi ArabiaMaleYesYes Visual impairment; Nystagmus; ...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016 Relative of 617781.1...
617781.10.2Saudi ArabiaFemaleYesYes Visual impairment; Nystagmus; Global d...NM_014714.4:c.1990G>AHomozygousAutosomal, RecessiveBifari et al. 2016 Relative of 617781.1...
617781.11Saudi ArabiaMaleYesYes Visual impairment; NystagmusNM_014714.4:c.1541_1542delinsAAHomozygousAutosomal, RecessiveBifari et al. 2016 The patient had 3 si...
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