RPE65relaterte
RPE65-related disorders are a group of rare genetic conditions primarily affecting vision, caused by mutations in the *RPE65* gene. The *RPE65* gene encodes a protein essential for the production of 11-*cis*-retinal, a critical component in the visual cycle of photoreceptor cells in the retina. Without functional RPE65, photoreceptors—particularly rods and cones—cannot regenerate the light-sensitive pigment rhodopsin, leading to progressive vision loss.
The most well-known condition associated with *RPE65* mutations is Leber congenital amaurosis type 2 (LCA2), a
Diagnosis is confirmed through genetic testing, which identifies mutations in the *RPE65* gene. Treatment options have
Other supportive treatments include low-vision aids, such as magnifying devices and adaptive technologies, to help patients
The inheritance pattern of *RPE65*-related disorders is typically autosomal recessive, meaning a child must inherit two