A Homozygous Frameshift Mutation in LRAT Causes Retinitis Punctata Albescens
Littink KW et al. – A genetic defect was identified in LRAT as a novel cause of retinitis punctata albescens. LRAT is therefore the fourth gene involved in the visual cycle that may cause a white–dot retinopathy. The authors also revealed that mutations in RLBP1 may lead to fundus albipunctatus with cone dystrophy.