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RDH12 retinopathy: clinical features, biology, genetics and future directions

2 May 2022

Abstract excerpt

Retinol dehydrogenase 12 (RDH12) is a small gene located on chromosome 14, encoding an enzyme capable of metabolizing retinoids. It is primarily located in photoreceptor inner segments and thereby is believed to have an important role in clearing excessive retinal and other toxic aldehydes produced by light exposure. Clinical features: RDH12-associated retinopathy has wide phenotypic variability; including...

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PMID: 35491887
DOI: 10.1080/13816810.2022.2062392

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