This 25YO highly myopic female presented with bilateral encircling areas of snowflake degeneration and lattice degeneration vs a retinal tuft with white without pressure in her right eye. There was no family history of retinal detachment.
Learning Points:
Snowflake degeneration is a rare, autosomal dominant disorder localized to chromosome 2q36 (Jiao et al, Invest Ophthalmol Vis Sci 2004;45:4498-4503).
Originally described by Hirose et al in a family of 15 members (AJO 1974;77:143-153), discrete, small refractile deposits form in the peripheral fundi. This is accompanied by fibrillar vitreous degeneration, WWP, lattice degeneration, and retinal detachment. There are no associated systemic abnormalities.
