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Subspecialties Health Economics and Policy, Retina

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The RPE65 protein is responsible for conversion of all-trans retinyl back to 11-cis retinol in the retinal pigment epithelium (RPE), thereby enabling the continuation of visual cycle. Consequently, loss-0f-function mutations in RPE65 result in accumulation of all-trans retinyl in the RPE – and photoreceptor death. Such mutations are rare (for example, they account for around 16 percent of Leber congenital amaurosis cases, which itself has a prevalence of only 1 in ~50,000) but the profound cost of blindness to patients and society drives the field to seek a treatment for these individuals.

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