Leber congenital amaurosis 16
Leber congenital amaurosis 16 is an autosomal recessive disorder caused by mutations of the KCNJ13 gene.
Sergouniotis PI et. al. (2011) Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.[^]
Khan AO et. al. (2015) A distinct vitreo-retinal dystrophy with early-onset cataract from recessive KCNJ13 mutations.[^]
Pattnaik BR et. al. (2015) A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16).[^]