Leber Congenital Amaurosis

Leber congenital amaurosis (LCA) is an inherited retinal degenerative disease characterized by severe loss of vision at birth. Several other symptoms including deep-set eyes, roving eye movements,  and sensitivity to bright light also occur with this disease. Some patients with LCA also experience central nervous system abnormalities.

LCA is mostly inherited as an autosomal recessive, genetically heterogeneous (multigenic) disorder. Although there is currently no treatment for the disease the researchers have already identified several genes linked to the disease. Mutations in at least six genes have been associated with retinal pathology consistent with the diagnosis of LCA.

For further information we recommend to read:

The Foundation Fighting Blindness > What is Leber congenital amaurosis?