CRB1

Many variants (also called mutations) in the CRB1 gene have been found to cause Leber congenital amaurosis. Leber congenital amaurosis 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 CRB1 gene account for 9 to 13 percent of all cases of this condition.

Most of the CRB1 gene variants responsible for Leber congenital amaurosis lead to an abnormally short, nonfunctional version of the CRB1 protein or significantly reduce the amount of this protein produced in cells. A shortage of the CRB1 protein disrupts the early development of the retina. The retina becomes unusually thick and does not develop the normal layered structure. These changes cause severe visual impairment beginning very early in life.

MedlinePlus Genetics provides information about Cone-rod dystrophy

MedlinePlus Genetics provides information about Retinitis pigmentosa