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References OMIM Gene GeneReviews HGMD HGNC
last update : 09-01-2019
Symbol MCVD
Location 3q28
Name myopia, high, with cataract and vitreoretinal degeneration
Corresponding gene P3H2
Main clinical features
  • nonsyndromic severe myopia with variable expressivity of cataract and vitreoretinal degeneration, also including ectopia lentis
  • asymmetric bilateral temporal lens subluxation and crystalline lens opacities
  • Genetic determination autosomal recessive
    Function/system disorder eye
    Type disease