Term Name: | snowflake vitreoretinal degeneration |
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Synonyms: | SVD, vitreoretinal degeneration, snowflake type |
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. |
Ontology: | Human Disease [DOID:0111570] ( DOID:0111570 ) |