snowflake vitreoretinal degeneration

Pathology

• developmental & progressive hereditary eye disorder that affects multiple tissues within the eye
• fibrillar degeneration of the vitreous humor
• early-onset cataract
• minute crystalline deposits in the neurosensory retina
• retinal detachment

Genetics

• associated with defects in KCNJ13

More general terms

• retinal disease

Database

• OMIM: https://mirror.omim.org/entry/193230