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Article

An Analysis of the Effect of ABCA4 p.Asn1868Ile Genotypes on Retinal Structure in 26,558 Participants in the UK Biobank.

Investigative ophthalmology & visual science - 1 Jun 2023

Simcoe Mark J, Arno Gavin, Hysi Pirro G, Ko Tony, Michaelides Michel, Hammond Christopher J, Patel Praveen J, Mahroo Omar A, Webster Andrew R

Abstract excerpt

Purpose: To determine whether the ABCA4 retinopathy-associated variant p.Asn1868Ile (c.5603A>T) is associated with retinal structure or subclinical disease among the general population. Methods: UK Biobank participants of European ancestry with available spectral-domain optical coherence tomography (OCT) passing quality control metrics and exome sequencing data were included. Regression analyses using both linear...

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PMID: 37342033
DOI: 10.1167/iovs.64.7.31
PMCID: PMC10291893

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