Snowflake degeneration of the retina.
Ten patients in four families with white or yellow-white granular-like deposits of the peripheral retina, consistent with the description of snowflake degeneration are reported. The granular changes are observable near the equatorial fundus as numerous ophthalmoscopically discrete deposits commonly up to 100 to 200 microns in size that focally thicken the retina. They can be rather evenly distributed about the entire circumference of the eye, but sometimes they may show a predilection for the inferior quadrants. The lesions need not be associated with recognizable vitreous liquefaction, vitreoretinal traction, retinal breaks, or retinal pigmentation, and in some instances the condition appears relative stable for intervals as long as five years. The similar appearance in a mother and her 9-year-old son suggests further the relative stability of the condition. In its pure form, snowflake degeneration may be an innocent dominant familial finding but when associated with other conditions such as lattice degeneration, snowflake degeneration may be of clinical significance. Affected members may have co-existing extensive white with and without pressure changes and/or lattice degeneration.
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*