Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome (RDJCSS)

Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome, also known as retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome, is related to leber congenital amaurosis 13 and stargardt disease. An important gene associated with Retinal Dystrophy, Juvenile Cataracts, and Short Stature Syndrome is RDH11 (Retinol Dehydrogenase 11), and among its related pathways/superpathways is Metabolism of water-soluble vitamins and cofactors. Affiliated tissues include eye and retina, and related phenotypes are global developmental delay and abnormal facial shape