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Abstract INTRODUCTION RESULTS DISCUSSION MATERIALS AND METHODS Acknowledgments Supplementary Materials REFERENCES Information & Authors Metrics & Citations View Options References Figures Tables Media Share Abstract Rhodopsin (RHO) missense variants are a leading cause of autosomal dominant retinitis pigmentosa (adRP), a progressive retinal degeneration. Interpreting RHO variant pathogenicity is challenging, and understanding their disease mechanisms is essential for developing therapeutics.
Abstract Purpose: RPE65 is a key enzyme in the visual cycle that regenerates 11-cis retinal. Mutations in RPE65 cause a retinal dystrophy that is treatable with an FDA-approved gene therapy. Variants of unknown significance (VUS) on genetic testing can prevent patients from obtaining a firm genetic diagnosis and accessing gene therapy.
Information Copyright 2022, SLACK Incorporated The authors acknowledge Andy Lauer for suggesting the possibility of an eccentric macular hole in this case and Robert MacLaren for additional surgical advice. Jay C.
[Skip to Content Landing] Original Investigation Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease Laura Kuehlewein, MD; Ditta Zobor, MD; Sten Olof Andreasson, MD, PhD; Carmen Ayuso, MD, PhD; Sandro Banfi, MD; Beatrice Bocquet, PhD; Antje S. Bernd, MD; Saskia Biskup, MD, PhD; Camiel J. F. Boon, MD, PhD; Susan M. Downes, MD; M. Dominik Fischer, MD, PhD; Frank G. Holz, MD; Ulrich Kellner, MD; Bart P.
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