Retinol Dehydrogenase 12 (RDH12): Role in Vision, Retinal Disease, and Future Perspectives
September 2019
in “
Experimental Eye Research
”
TLDR The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
The document from October 31, 2019, discussed the role of Retinol dehydrogenase 12 (RDH12) in vision and retinal disease. RDH12 is an enzyme involved in the visual cycle, which regenerates the visual pigment, 11-cis retinal. Mutations in RDH12 are primarily associated with Leber congenital amaurosis (LCA) type 13, an early onset retinal dystrophy, accounting for approximately 10% of all LCA cases. Patients with autosomal recessive RDH12 retinopathy usually present in infancy with early onset visual loss, leading to severe visual impairment and blindness in adulthood. RDH12 functions as a retinal reductase, with highest activity towards all-trans retinal, followed by 11-cis retinal. Studies have shown that disease-associated mutants of RDH12 have significantly reduced enzyme activity. Despite considerable research into RDH12, the exact disease mechanism in humans is still unclear and no treatments exist.
