Leber Congenital Amaurosis 13 (LCA13)

Leber Congenital Amaurosis 13, also known as retinitis pigmentosa 53, is related to retinal dystrophy, juvenile cataracts, and short stature syndrome and retinitis pigmentosa 84. An important gene associated with Leber Congenital Amaurosis 13 is RDH12 (Retinol Dehydrogenase 12), and among its related pathways/superpathways are Visual phototransduction and Ciliary landscape. Affiliated tissues include retina and eye, and related phenotypes are reduced visual acuity and optic disc pallor