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last update : 07-10-2016
Symbol SVD
Location 2q37.1
Name snowflake vitreoretinal degeneration
Corresponding gene KCNJ13
Main clinical features
  • vitreous abnormalities, including fibrillar degeneration, gel liquefaction, and marked thickening of the cortical vitreous, the earliest change is in the superficial retinal layers and cortical vitreous
  • fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    missense   abnormal protein/loss of function R162W produces a nonselective cation current that depolarizes cells and increases their fragility
  • effect of R162W mutation is a result of loss of hydrogen bonding by the regulatory lipid binding domain of the cytoplasmic structure (PMID: 23977131))