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References OMIM Gene GeneReviews HGMD HGNC
last update : 24-05-2017
Symbol EVR2
Location Xp11.3
HGNC id 3505
Name familial exudative vitreoretinopathy 2
Corresponding gene NDP
related resource Retinal Information Network
Other symbol(s) XLVR, FEVR
Main clinical features
  • retinal traction, peripheral vitreous opacities, and subretinal and intraretinal exudates
  • posterior vitreous detachment with organized membranes in all quadrants
  • vitreoretinal traction produced by membranes and resulted in displacement of the macula
  • snowflake opacities scattered through the vitreous humor
  • rare X-linked form
  • Genetic determination sex linked
    Function/system disorder eye
    Type disease
    Gene product
    Name putative mucin-like protein
    Remark(s) allelic to NDP, may be involving a linked gene in rare cases