Leber Congenital Amaurosis 4 (LCA4)

Leber Congenital Amaurosis 4, also known as retinitis pigmentosa, juvenile, is related to cone-rod dystrophy 9 and cone-rod dystrophy 3. An important gene associated with Leber Congenital Amaurosis 4 is AIPL1 (Aryl Hydrocarbon Receptor Interacting Protein Like 1), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. The drugs Cholecalciferol and Vitamin A have been mentioned in the context of this disorder. Affiliated tissues include eye and retina, and related phenotypes are keratoconus and blindness