Vitreoretinal Degeneration, Snowflake Type (SVD)

Vitreoretinal Degeneration, Snowflake Type, also known as snowflake vitreoretinal degeneration, is related to retinal detachment and intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. An important gene associated with Vitreoretinal Degeneration, Snowflake Type is KCNJ13 (Potassium Inwardly Rectifying Channel Subfamily J Member 13), and among its related pathways/superpathways are Transmission across Chemical Synapses and Dopamine-DARPP32 Feedback onto cAMP Pathway. Affiliated tissues include eye and retina, and related phenotypes are optically empty vitreous and cataract