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GENATLAS PHENOTYPE

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

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function	R162W produces a nonselective cation current that depolarizes cells and increases their fragility

Remark(s)

effect of R162W mutation is a result of loss of hydrogen bonding by the regulatory lipid binding domain of the cytoplasmic structure (PMID: 23977131))