Cécile Méjécase

Autosomal Recessive RDH12-Leber Congenital Amaurosis Retinal Organoids Suggest Phospholipid Pathway Dysregulation

NADPH-dependent retinol dehydrogenase 12 (RDH12) reduces all-trans-retinal in photoreceptor inner segments to regulate the phototransduction cascade and control the concentration of retinoids in the retina. Variants in RDH12 have been reported to cause an array of retinal disease...