Article

RPE65 variant p.(E519K) causes a novel dominant adult-onset maculopathy in 83 affected individuals

2025-05-05

Abstract excerpt

<title>Abstract</title> <p> Recessive RPE65-related retinopathy is an inherited retinal disease (IRD) that is a well-established target for gene therapy. Dominant RPE65-related retinopathy, however, due to Irish founder variant p.(D477G), is extremely rare. Here, we report the discovery, replication and characterization of a novel dominant retinopathy caused by RPE65 variant p.(E519K), identified in 83 individua...

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Literature Corpus work: a51bdffc-a662-53ef-8409-4d0c975ea42a
DOI: 10.21203/rs.3.rs-5849564/v2

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