# Snowflake vitreoretinal degeneration

INSERM

## Source

INSERM. (1999). Orphanet: an online rare disease and orphan drug data base. *Snowflake vitreoretinal degeneration*. ORPHA:91496

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.