This 32YO female was diagnosed at age 3 with Leber congenital amaurosis from a pathogenic RDH12 mutation. Progressive central and peripheral field loss with night blindness began in her late teens. Her brother also has this disorder. Vision was 20/200 OD and hand motion OS.
Color photography shows extensive pigmentary changes with intraretinal pigment migration throughout the macula and extending into the retinal peripheries. Variable outer retinal atrophy, especially in the central macula, is noted on OCT scanning.
Learning Points:
Initially described by Theodor Karl Gustav von Leber in 1869, Leber congenital amaurosis is a genetically heterogeneous group of inherited retinal dystrophies causing severe early vision loss.
The most common causative genes include CEP290, GUCY2D, CRB1, and RPE65. Mutations in the RDH12 gene, which encodes retinol dehydrogenase 12, account for about 4% of cases of Leber congenital amaurosis (Perrault et al, Am J Hum Genet 2004;76:639-646).
