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Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.

Ophthalmology - 1 Oct 2020

Pontikos Nikolas, Arno Gavin, Jurkute Neringa, Schiff Elena, Ba-Abbad Rola, Malka Samantha, Gimenez Ainoa, Georgiou Michalis, Wright Genevieve, Armengol Monica, Knight Hannah, Katz Menachem, Moosajee Mariya, Yu-Wai-Man Patrick, Moore Anthony T, Michaelides Michel, Webster Andrew R, Mahroo Omar A

Abstract excerpt

PURPOSE: In a large cohort of molecularly characterized inherited retinal disease (IRD) families, we investigated proportions with disease attributable to causative variants in each gene. DESIGN: Retrospective study of electronic patient records. PARTICIPANTS: Patients and relatives managed in the Genetics Service of Moorfields Eye Hospital in whom a molecular diagnosis had been identified. METHODS: Genetic...

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PMID: 32423767
DOI: 10.1016/j.ophtha.2020.04.008
PMCID: PMC7520514

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