snowflake vitreoretinal degeneration

Snowflake vitreoretinal degeneration is an inherited eye condition marked by small, granular deposits that look like snowflakes in the retina. It also involves changes in the gel-like substance inside the eye (fibrillary vitreous degeneration) and the development of cataracts, which cloud the lens. This condition has been observed in several families.

People with this condition may have visible deposits in the retina and develop cataracts. These changes are usually noticed during an eye examination. Specific symptoms experienced by individuals are not described in detail with the available information.

This condition is caused by a genetic mutation and is passed on in an autosomal dominant pattern, meaning that one copy of the mutated gene may cause the disorder. The disease gene has been localized to a small region on chromosome 2q36. One of the known genes associated with the condition is KCNJ13.

Information about treatment options and management strategies for snowflake vitreoretinal degeneration is currently limited. Regular eye examinations and supportive care from eye care professionals may be part of managing changes in the eyes.

Details on long-term outcomes and the overall quality of life for people with this condition are currently limited. Ongoing care and ophthalmologic monitoring can help manage the condition over time.

Research has contributed to mapping the genetic cause of this condition, particularly pinpointing the region on chromosome 2q36 and the involvement of the KCNJ13 gene. However, more detailed and up-to-date research information is currently limited.