Résumé
To evaluate the mutation prevalence and phenotype in genes involved in the ocular retinoid metabolism.
We analyzed
LRAT, encoding the lecithin retinol acyltransferase, and
RDH10, a retinal pigment epithelium-specific retinol dehydrogenase.
We screened by denaturing-high performance liquid chromatography (D-HPLC) and direct sequencing all coding exons of
LRAT and
RDH10 in 216 patients, including 134 with simplex or multiplex retinitis pigmentosa and 82 with various types of flecked retinal dystrophies.
Only nonpathogenic variants were found in this series. In an additional 2.5-year-old patient presenting with an “RPE65” phenotype (night blindness, photoattractivity, and visual improvement several months after birth), we discovered a homozygous deletion in
LRAT (c.217_218delAT) leading to a premature stop at codon 120.
The phenotype of patients with mutations in
LRAT is similar to that of patients with mutations in
RPE65, suggesting the need to systematically screen both genes in case of typical phenotype.