Retinoschisis 1, X-Linked, Juvenile

Alternative Names

  • RS1
  • XLRS1
  • RS

Associated Genes

Retinoschisin
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of eye, ear, face and neck

OMIM Number

312700

Gene Map Locus

Xp22.13

Description

X-linked retinoschisis (XLRS) is a retinal dystrophy that leads to schisis (splitting) of the neural retina leading to reduced visual acuity in affected men. The condition accounts for almost all congenital retinoschisis, with occasional reports of autosomal dominant retinoschisis making up the remainder. The split in the retina occurs predominantly within the inner retinal layers and is very different from retinal detachment, which is a split between the neural retina and the retinal pigment epithelium. In general, carrier females remain asymptomatic. [From OMIM]

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
600105.4.2United Arab EmiratesMaleYesYes Retinal dystrophy; Visual impairment; Ma... NM_201253.3:c.2505_2508del, NM_000330.4:c.304C>THemizygous, HeterozygousX-linked, RecessiveKhan and El-Ghrably. 2019 Brother of 600105.1....
600105.4.3United Arab EmiratesFemaleYesYes Retinal dystrophy; Visual impairment; St... NM_201253.3:c.2505_2508del, NM_000330.4:c.304C>THeterozygous, HomozygousX-linked, RecessiveKhan and El-Ghrably. 2019 Sister of 600105.1.1...
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