Genetic detection of a novel <i>LRAT</i> pathogenic variant in patients with early-onset severe retinal dystrophy

A novel homozygous missense mutation in LRAT (NM_004744.5):c.578 G>T (p.Arg193Ile) was identified in this Han Chinese family with early-onset severe retinal dystrophy. Our research identified a connection between variations in the LART gene and EOSRD, suggesting that further studies are needed to understand the underlying causes of this disease. This discovery expands the mutation spectrum in LRAT and offers valuable insights for exploring the molecular mechanisms involved in the development of EOSRD.