Leber congenital amaurosis 14
Leber congenital amaurosis 14 is an autosomal recessive disorder caused by mutations of the LRAT gene.
Gu SM et. al. (1997) Mutations in RPE65 cause autosomal recessive childhood-onset severe retinal dystrophy.[^]
den Hollander AI et. al. (2007) Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays.[^]
Thompson DA et. al. (2001) Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy.[^]
Sénéchal A et. al. (2006) Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis.[^]