RPE65
retinoid isomerohydrolase RPE65
Normal Function
Health Conditions Related to Genetic Changes
Leber congenital amaurosis
Many variants (also called mutations) in the RPE65 gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily affects the retina. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. Variants in the RPE65 gene account for 6 to 16 percent of all cases of this condition.
RPE65 gene variants lead to a partial or total loss of RPE65 protein function. As a result, all-trans retinal cannot be converted back to 11-cis retinal, and excess all-trans retinal builds up in the retinal pigment epithelium. These abnormalities block the visual cycle, which leads to severe visual impairment beginning very early in life in Leber congenital amaurosis.
More About This Health ConditionRelated Conditions
Leber congenital amaurosisFundus albipunctatusRetinitis pigmentosa
Health Conditions Related to Genetic Changes
Many variants (also called mutations) in the RPE65 gene have been found to cause Leber congenital amaurosis. This condition is an eye disorder that primarily affects the retina. People with this disorder typically have severe visual impairment beginning at birth or shortly afterward. Variants in the RPE65 gene account for 6 to 16 percent of all cases of this condition.
RPE65 gene variants lead to a partial or total loss of RPE65 protein function. As a result, all-trans retinal cannot be converted back to 11-cis retinal, and excess all-trans retinal builds up in the retinal pigment epithelium. These abnormalities block the visual cycle, which leads to severe visual impairment beginning very early in life in Leber congenital amaurosis.
MedlinePlus Genetics provides information about Fundus albipunctatus
MedlinePlus Genetics provides information about Retinitis pigmentosa