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snowflake vitreoretinal degeneration

Disease Summary
Associated Targets (2)
Tchem

1

Tbio

1


GARD Rare
Mondo Description 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.
Uniprot Description Developmental and progressive hereditary eye disorder that affects multiple tissues within the eye. Diagnostic features of SVD include fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment.
Mondo Term and Equivalent IDs
MONDO:0008663:  snowflake vitreoretinal degeneration
DOID:0111570: 
GARD:0009706: 
MESH:C536677: 
Orphanet:91496: 
UMLS:C1860405: