Leber congenital amaurosis 4

Leber congenital amaurosis 4 is a rare form of a group of inherited eye disorders known as Leber congenital amaurosis. This condition affects the retina, the light-sensitive tissue at the back of the eye, and leads to early-onset visual impairment. The condition is specifically caused by mutations in the AIPL1 gene, as stated in the definition. People with this condition may experience significant challenges with vision early in life. Although various forms of Leber congenital amaurosis exist, this type is defined by its relationship to the AIPL1 gene mutation. Information about the complete spectrum of signs and symptoms is currently limited, so further details about the progression and full impact on vision remain under investigation.

Information about symptoms is currently limited for this condition.

Leber congenital amaurosis 4 is caused by a mutation in the AIPL1 gene. This genetic change affects the normal function of the retina, leading to early vision impairment. The mutation is the primary cause of this specific type of Leber congenital amaurosis.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.