RPE65-related recessive retinopathy

RPE65-related recessive retinopathy is a type of retinopathy that affects the vision. It can include conditions known as retinitis pigmentosa and Leber congenital amaurosis. This condition is caused by changes in both copies of the RPE65 gene, which is essential for normal eye function. People with this condition may experience vision problems from an early age, although the degree and speed of vision loss can vary. The description of this retinopathy comes from the study of genetic mutations specifically in the RPE65 gene, which helps explain the range of eye conditions observed in affected individuals.

Information about symptoms is currently limited for this condition.

RPE65-related recessive retinopathy is caused by having biallelic variants in the RPE65 gene. This means that changes in both copies of the gene are involved. The RPE65 gene plays an important role in the visual cycle, and the presence of mutations can lead to early-onset vision issues in people with this condition.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about current research and future directions is currently limited for this condition.