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Article

Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Investigative ophthalmology & visual science - 3 May 2021

Jurkute Neringa, Shanmugarajah Priya D, Hadjivassiliou Marios, Higgs Jenny, Vojcic Miodrag, Horrocks Iain, Nadjar Yann, Touitou Valerie, Lenaers Guy, Poh Roy, Acheson James, Robson Anthony G, Raymond F Lucy, Reilly Mary M, Yu-Wai-Man Patrick, Moore Anthony T, Webster Andrew R, Arno Gavin

Abstract excerpt

Purpose: The purpose of this study was to report retinal dystrophy as a novel clinical feature and expand the ocular phenotype in patients harboring biallelic candidate FDXR variants. Methods: Patients carrying biallelic candidate FDXR variants were identified by whole genome sequencing (WGS) as part of the National Institute for Health Research BioResource rare-disease and the UK's 100,000 Genomes Project...

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Identifiers

PMID: 33938912
DOI: 10.1167/iovs.62.6.2
PMCID: PMC8107637

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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