Leber congenital amaurosis 12
Leber congenital amaurosis 12 is an autosomal recessive disorder caused by mutations of the RD3 gene.
Friedman JS et. al. (2006) Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.[^]
Preising MN et. al. (2012) Mutations in RD3 are associated with an extremely rare and severe form of early onset retinal dystrophy.[^]
Perrault I et. al. (2013) Union makes strength: a worldwide collaborative genetic and clinical study to provide a comprehensive survey of RD3 mutations and delineate the associated phenotype.[^]