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Snowflake vitreoretinal degeneration
rareSnowflake vitreoretinal degeneration (SVD) is characterized by the presence of small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration and cataract. The prevalence is unknown but the disorder has been described in several families. Transmission is autosomal dominant and the causative gene has been localized to a small region on chromosome 2q36.
- Identifiers
- MONDO:0008663 OMIM:193230Orphanet:91496
- Causal genes
- KCNJ13
- Part of
- Vitreoretinal degeneration
- Also known as
- snowflake degeneration in hereditary vitreoretinal degeneration · SVD · vitreoretinal degeneration, snowflake type
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