Retinitis Pigmentosa 56

Alternative Names

  • RP56
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

613581

Mode of Inheritance

Autosomal recessive

Gene Map Locus

3q12.3

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
613581.1Saudi ArabiaUnknownNoYes Visual impairment; Rod-cone dystrophyNM_016247.4:c.2274G>AHomozygousAutosomal, RecessivePatel et al, 2018
613581.2.1United Arab EmiratesMaleYesYes Photophobia; Reduced visual acuity; Rod-...NM_016247.4:c.189dupHomozygousAutosomal, RecessiveKhan et al. 2019
613581.2.2United Arab EmiratesMaleYesYes Reduced visual acuity; Rod-cone dystroph...NM_016247.4:c.189dupHomozygousAutosomal, RecessiveKhan et al. 2019 Sibling of 613581.2....
613581.2.3United Arab EmiratesFemaleYesYes Reduced visual acuity; Retinal pigment e...NM_016247.4:c.189dupHomozygousAutosomal, RecessiveKhan et al. 2019 Sibling of 613581.2....
613581.2.4United Arab EmiratesMaleYesYes Reduced visual acuity; Retinal pigment e...NM_016247.4:c.189dupHomozygousAutosomal, RecessiveKhan et al. 2019 Sibling of 613581.2....
613581.3United Arab EmiratesMale Reduced visual acuity; Optic disc pallor...NM_016247.4:c.189dupHomozygousAutosomal, RecessiveKhan et al. 2019
613581.4.1United Arab EmiratesFemaleYesYes Reduced visual acuity; Esotropia; Peripa...NM_016247.4:c.533+4_533+7delHomozygousAutosomal, RecessiveKhan et al. 2019
613581.5United Arab EmiratesMale Reduced visual acuity; Iridescent poster...NM_016247.4:c.3262C>THomozygousAutosomal, RecessiveKhan et al. 2019
613581.G.1Saudi ArabiaUnknownYesYes Visual impairment; Rod-cone dystrophyNM_016247.4:c.2274G>AHomozygousAutosomal, RecessivePatel et al, 2018 3 members of a famil...
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