RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

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Authors

Eline Van Vooren · Ghent University

Filip Van den Broeck · Ghent University Hospital

Quinten Mahieu · Ghent University

Eline Geens · Ghent University

Mattias Van Heetvelde · Ghent University Hospital

Marieke De Bruyne · Ghent University Hospital

Stijn Van de Sompele ·

Abstract

The discovery of a dominant RPE65-IRD due to founder variant p.(E519K) reduces the diagnostic gap in dominant IRD and highlights a novel target for therapy.

Topics & Keywords

Retinal Development and Disorders Retinal Diseases and Treatments RNA regulation and disease

Publication Details

Published in: Investigative Ophthalmology & Visual Science

Volume 66, Issue 12, pp. 53-53

DOI: 10.1167/iovs.66.12.53

Field-Weighted Citation Impact: 0.82

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RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals

Authors

Abstract

Topics & Keywords

Publication Details