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Snowflake vitreoretinal degeneration

Disease definition

Snowflake vitreoretinal degeneration (SVD) is characterised 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 localised to a small region on chromosome 2q36.

ORPHA:91496

  • Synonym(s): -
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: -
  • ICD-10: H35.5
  • OMIM: 193230
  • UMLS: C1860405
  • MeSH: C536677
  • GARD: 9706
  • MedDRA: -
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