snowflake vitreoretinal degeneration (DOID:0111570)
Alliance: disease page
Synonyms: SVD; vitreoretinal degeneration, snowflake type
Alt IDs: OMIM:193230, MESH:C536677, ORDO:91496, UMLS_CUI:C1860405
Definition: An eye degenerative disease characterized by fibrillar degeneration of the vitreous humor, early-onset cataract, minute crystalline deposits in the neurosensory retina, and retinal detachment that has_material_basis_in heterozygous mutation in KCNJ13 on chromosome 2q37.1.