creening Gene of the Retinoid Metabolim: Novel LRAT Mutation in Leber Congenital Amauroi

Purpoe To evaluate the mutation prevalence and phenotype in gene involved in the ocular retinoid metabolim. Deign We analyzed LRAT, encoding the lecithin retinol acyltranferae, and RDH10, a retinal pigment epithelium-pecific retinol dehydrogenae. Method We creened by denaturing-high performance liquid chromatography (D-HPLC) and direct equencing all coding exon of LRAT and RDH10 in 216 patient, including 134 with implex or multiplex retiniti pigmentoa and 82 with variou type of flecked retinal dytrophie. Reult Only nonpathogenic variant were found in thi erie. In an additional 2.5-year-old patient preenting with an “RPE65” phenotype (night blindne, photoattractivity, and viual improvement everal month after birth), we dicovered a homozygou deletion in LRAT (c.217_218delAT) leading to a premature top at codon 120. Concluion The phenotype of patient with mutation in LRAT i imilar to that of patient with mutation in RPE65, uggeting the need to ytematically creen both gene in cae of typical phenotype.