Myopia, High, With Cataract And Vitreoretinal Degeneration

Alternative Names

  • MCVD

Associated Genes

Prolyl 3-Hydroxylase 2
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WHO-ICD-10 version:2010
OMIM Number

614292

Gene Map Locus

3q28

Description

MCVD is an autosomal recessive disorder characterised by nonsyndromic severe myopia and early-onset cataract. In some cases, patients have also been reported with retinal detachment, lens subluxation or lens coloboma.

Epidemiology in the Arab World

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Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614292.1United Arab EmiratesFemaleYesYes Abnormality iris morphology; Iridodonesi... NM_018192.4:c.1543_1546delHomozygousKhan. 2019 Patient has a simila...
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