Snowflake vitreoretinal degeneration

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.

Disease data

Classification

Disease

ORPHA code

91496

OMIM code

193230

ICD10 code

H35.5

ICD11 code

*Soruce