Defective visual phototransduction due to LRAT loss of function

Normally functioning lecithin retinol acyltransferase (LRAT) mediates the transfer of an acyl group onto all-trans-retinol (atROL), forming retinyl esters (REs), the storage form of retinoids. Defects in LRAT cause Leber congenital amaurosis type 14 (LCA14, MIM:613341), an autosomal recessive juvenile-onset retinal dystrophy affecting rod and cone photoreceptors. Leber congenital amaurosis (LCA) comprises a group of early-onset retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction.

Summary from Reactome (R-HSA-9918442), read 2026-09-23.