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11-cis retinol dehydrogenase 5 (RDH5) is a retinal enzyme present predominantly in the retinal pigment epithelium (RPE), essential for the visual cycle by oxidizing 11-cis retinol to 11-cis retinal—the chromophore for rod and cone opsins, thereby enabling phototransduction and normal vision, especially in low-light conditions[1][2][3]. RDH5 deficiency due to genetic mutations causes accumulation of cis-retinols and impaired chromophore regeneration, leading to stationary night blindness (fundus albipunctatus) and, in many cases, progressive degeneration of the macula over time[1][2][3]. The gene is an important research and clinical target for inherited retinal diseases and is classified within the short chain dehydrogenase/reductase enzyme family[1][3]. There are no commonly used drugs that target RDH5 specifically; however, gene or enzyme therapy may be a future direction for treating associated retinopathies[2].
Enzymatic oxidation of 11-cis retinol to 11-cis retinal using NAD+ as a cofactor
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