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Macula-predominant retinopathy associated with biallelic variants in RDH12.

Rola Ba-AbbadGavin ArnoAnthony G RobsonKonstantinos BourasMichalis GeorgiouGenevieve WrightAndrew R WebsterMichel Michaelides
Published in: Ophthalmic genetics (2020)
Disease-causing variants in RDH12 are typically associated with early-onset severe retinal dystrophy with significant macular involvement. Hypomorphic alleles of this gene cause relatively mild retinopathy with predominant macular involvement. This phenotype demonstrates the vulnerability of the macular photoreceptors to certain perturbations of RDH12.
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