Snowflake vitreoretinal degeneration is a condition that primarily affects the vitreous and retina of the eye. The vitreous and retina are important for forming images seen by the eyes. Specifically, the vitreous humor is fluid that fills the space between the lens and the retina (back) of the eyeball, and the retina is responsible for 'fixing' messages before they are transmitted to the brain.
This condition is typically characterized by small granular-like deposits resembling snowflakes in the retina, fibrillary vitreous degeneration (when the vitreous can no longer properly function), and cataracts (when the lens of the eye gets cloudy). Individuals will often see floaters, which are spots in the field of vision that may look like black or gray specks that drift around, when you move your eyes.
Snowflake vitreoretinal degeneration is a genetic condition caused by changes in the KCNJ13 gene. We inherit our genes in pairs, one from each parent typically. This condition is inherited in an autosomal dominant manner. Autosomal dominant means an individual only needs one copy of the changed gene or mutation that causes the condition. If one parent is a carrier for the mutated gene, children have a 50% chance of having the condition.
Doctors diagnose an individual with snowflake vitreoretinal degeneration by looking at family medical history, lab tests, symptoms, and by examining the eyes. Cataracts can develop later in life from this condition but can be safely removed by surgery in most cases. Patients’ eyes should be checked regularly throughout the lifetime to make sure that retinal detachment does not occur.
If you or a family member has been diagnosed with snowflake vitreoretinal degeneration, talk with your doctor about the most current treatment options. Support groups are also good resources of support and information.
Description Last Updated: Sep 03, 2018