Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

doi:10.1001/jamaophthalmol.2020.4206

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Article

Clinical Phenotype and Course of PDE6A-Associated Retinitis Pigmentosa Disease, Characterized in Preparation for a Gene Supplementation Trial.

JAMA ophthalmology - 1 Dec 2020

Kuehlewein Laura, Zobor Ditta, Andreasson Sten Olof, Ayuso Carmen, Banfi Sandro, Bocquet Beatrice, Bernd Antje S, Biskup Saskia, Boon Camiel J F, Downes Susan M, Fischer M Dominik, Holz Frank G, Kellner Ulrich, Leroy Bart P, Meunier Isabelle, Nasser Fadi, Rosenberg Thomas, Rudolph Günther, Stingl Katarina, Thiadens Alberta A H J, Wilhelm Barbara, Wissinger Bernd, Zrenner Eberhart, Kohl Susanne, Weisschuh Nicole

Abstract excerpt

Importance: Treatment trials require sound knowledge on the natural course of disease. Objective: To assess clinical features, genetic findings, and genotype-phenotype correlations in patients with retinitis pigmentosa (RP) associated with biallelic sequence variations in the PDE6A gene in preparation for a gene supplementation trial. Design, Setting, and Participants: This prospective, longitudinal,...

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PMID: 33057649
DOI: 10.1001/jamaophthalmol.2020.4206
PMCID: PMC7563671

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