snowflake vitreoretinal degeneration

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Disease Overview

Snowflake 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.


Synonyms

  • SVD
  • snowflake degeneration in hereditary vitreoretinal degeneration
  • snowflake vitreoretinal degeneration
  • vitreoretinal degeneration, snowflake typeSVD
  • snowflake degeneration in hereditary vitreoretinal degeneration
  • snowflake vitreoretinal degeneration
  • vitreoretinal degeneration, snowflake type