Leber congenital amaurosis 11

Leber congenital amaurosis 11 is a rare inherited disorder that affects the eyes. It is part of a group of conditions known as Leber congenital amaurosis, where the vision issues are present from birth or develop in early childhood. The specific type, LCA11, is caused by mutations in the IMPDH1 gene. People with this condition often experience severe vision impairment early in life. This summary is based on limited available information, so details about the onset and progression of vision loss may vary among individuals.

Information about common symptoms and signs is currently limited for this condition.

Leber congenital amaurosis 11 is caused by a mutation in the IMPDH1 gene. This change in the gene affects the normal development or function of the retina, which plays a key role in seeing. The condition is inherited, meaning it is passed down through families.

Information about treatment options and management approaches is currently limited for this condition.

Information about the outlook and quality of life for people with Leber congenital amaurosis 11 is currently limited for this condition.

Information about current research and future directions for Leber congenital amaurosis 11 is currently limited for this condition.