Retinitis Pigmentosa 12

Alternative Names

  • RP12
  • Retinitis Pigmentosa with or without Paraarteriolar Preservation of Retinal Pigment Epithelium
  • RP with or without Preserved Paraarteriole Retinal Pigment Epithelium
  • RP with or without PPRPE
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WHO-ICD-10 version:2010

Diseases of the eye and adnexa

Disorders of choroid and retina

OMIM Number

600105

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q31.3

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
600105.1.1LebanonMaleYesNo Visual impairment ; Esotropia ; Pendul...NM_201253.2:c.1772_1775delHomozygousAutosomal, RecessiveJalkh et al, 2014
600105.1.2LebanonFemaleYesYes Visual impairment ; Exotropia ; Pendul...NM_201253.2:c.1772_1775delHomozygousAutosomal, RecessiveJalkh et al, 2014 Mother of 600105.1.1
600105.1.3LebanonFemaleYesYes Visual impairment ; Nystagmus ; Ocular...NM_201253.2:c.1772_1775delHomozygousAutosomal, RecessiveJalkh et al, 2014 Maternal aunt of 600...
600105.1.4LebanonMaleYesNo Visual impairmentNM_201253.2:c.1772_1775del, NM_201253.2:c.2234C>THeterozygousAutosomal, RecessiveJalkh et al, 2014 Paternal uncle of 60...
600105.2.1Saudi ArabiaFemaleNo Rod-cone dystrophy ; Nyctalopia ; ...NM_201253.2:c.2234C>THomozygousAutosomal, RecessiveMonies et al. 2017 Patient was found to...
600105.3.1Saudi ArabiaUnknownNo Visual impairmentNM_201253.2:c.80G>CHomozygousAutosomal, RecessiveAldahmesh et al. 2009
600105.4.1United Arab EmiratesMaleYesYes Retinal dystrophy; Visual impairment; Ex...NM_201253.3:c.2505_2508delHomozygousAutosomal, RecessiveKhan and El-Ghrably. 2019 Proband. This patien...
600105.5United Arab EmiratesMale Retinal dystrophy; Visual impairmentNM_201253.3:c.2234C>THomozygousAutosomal, RecessiveKhan. 2020
600105.6United Arab EmiratesMale Retinal dystrophy; Visual impairmentNM_201253.3:c.3961T>GHomozygousAutosomal, RecessiveKhan. 2020
600105.G.1Saudi ArabiaUnknownYes Visual impairmentNM_201253.2:c.3159T>GHomozygousAutosomal, RecessiveAldahmesh et al. 2009 Family with 4 affect...
600105.G.2PalestineUnknownYes Visual impairmentNM_001257966.1:c.1844G>THomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
600105.G.3PalestineUnknownYes Visual impairmentNM_201253.2:c.2234C>THomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
600105.G.4IraqUnknownYes Visual impairmentNM_201253.3:c.2498G>AHomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
600105.G.5PalestineUnknownYes Visual impairmentNM_201253.3:c.3307G>AHomozygousAutosomal, RecessiveBeryozkin et al. 2013 Group consisting of ...
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