has material basis in germline mutation in KCNJ13 snowflake vitreoretinal degeneration https://rarediseases.info.nih.gov/diseases/9706/snowflake-vitreoretinal-degeneration https://www.malacards.org/card/vitreoretinal_degeneration_snowflake_type GARD:0009706 snowflake degeneration in hereditary vitreoretinal degeneration UMLS:C1860405 OMIM:193230 vitreoretinal degeneration, snowflake type Orphanet:91496 icd11.foundation:282570444 MESH:C536677 Snowflake vitreoretinal degeneration (SVD) is characterized 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 localized to a small region on chromosome 2q36. snowflake vitreoretinal degeneration SVD MEDGEN:395476 DOID:0111570 MONDO:0008663 vitreoretinal degeneration