Snowflake vitreoretinal degeneration

Definition:

Snowflake vitreoretinal degeneration (SVD) is an autosomal dominant retinal degeneration characterized by small yellow-white dots in the retina, fibrillar anomaly of the vitreous humor, and retinal detachment. Mutations in KCNJ13 cause SVD.

References:

[1]. J Fielding Hejtmancik, et al. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am J Hum Genet. 2008 Jan;82(1):174-80. [Content Brief]

[2]. Xiaodong Jiao, et al. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. Invest Ophthalmol Vis Sci. 2004 Dec;45(12):4498-503. [Content Brief]

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