Article
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Human molecular genetics - 22 Apr 2022
Occelli Laurence M, Daruwalla Anahita, De Silva Samantha R, Winkler Paige A, Sun Kelian, Pasmanter Nathaniel, Minella Andrea, Querubin Janice, Lyons Leslie A, Robson Anthony G, Heon Elise, Michaelides Michel, Webster Andrew R, Palczewski Krzysztof, Vincent Ajoy, Mahroo Omar A, Kiser Philip D, Petersen-Jones Simon M
Abstract excerpt
Pathogenic variants in retinol dehydrogenase 5 (RDH5) attenuate supply of 11-cis-retinal to photoreceptors leading to a range of clinical phenotypes including night blindness because of markedly slowed rod dark adaptation and in some patients, macular atrophy. Current animal models (such as Rdh5-/- mice) fail to recapitulate the functional or degenerative phenotype. Addressing this need for a relevant animal...
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