UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives

Sarkar, H; Moosajee, M; (2019) Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives. Experimental Eye Research , 188 , Article 107793. 10.1016/j.exer.2019.107793. Green open access

[thumbnail of Deposit UCL RDH12 review ExpEyeRes Moosajee.pdf]
Preview
Text
Deposit UCL RDH12 review ExpEyeRes Moosajee.pdf - Accepted Version

Download (759kB) | Preview

Abstract

Retinol dehydrogenase 12 (RDH12) is an NADPH-dependent retinal reductase, which is expressed in the inner segments of the photoreceptors. It functions as part of the visual cycle, which is a series of enzymatic reactions required for the regeneration of the visual pigment, and has also been implicated in detoxification of lipid peroxidation products. Mutations in RDH12 have been linked to Leber congenital amaurosis (LCA) and autosomal dominant retinitis pigmentosa. A number of in-vitro studies have shown that mutations in RDH12 result in little or no enzyme activity. Knockout mouse models however do not recapitulate the severe phenotype observed in patients, resulting in a limited understanding of the disease mechanisms. With gene replacement and small molecule drugs emerging for inherited retinal dystrophies, herein we provide a review of RDH12 structure, its role in vision and the current understanding of disease mechanisms linked to clinical phenotype to support therapeutic development.

Type: Article
Title: Retinol dehydrogenase 12 (RDH12): Role in vision, retinal disease and future perspectives
Location: England
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.exer.2019.107793
Publisher version: https://doi.org/10.1016/j.exer.2019.107793
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Retinol dehydrogenase 12 (RDH12); visual cycle; Leber congenital amaurosis (LCA).
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10083682
Downloads since deposit
206Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item