Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature - Université d'Angers Accéder directement au contenu
Article Dans Une Revue Investigative Ophthalmology & Visual Science Année : 2021

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

Yann Nadjar
Valerie Touitou

Résumé

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 (100KGP) with an additional case identified by exome sequencing. Retrospective clinical data were collected from the medical records. Haplotype reconstruction was performed in families harboring the same missense variant. Results: Ten individuals from 8 unrelated families with biallelic candidate variants in FDXR were identified. In addition to bilateral optic atrophy and variable extra-ocular findings, 7 of 10 individuals manifested retinal dystrophy comprising dysfunction and degeneration of both rod and cone photoreceptors. Five of 10 subjects had sensorineural hearing loss. The previously unreported missense variant (c.1115C > A, p.(Pro372His)) was found in 5 of 8 (62.5%) study families. Haplotype reconstruction using WGS data demonstrated a likely ancestral haplotype. Conclusions: FDXR-associated disease is a phenotypically heterogeneous disorder with retinal dystrophy being a major clinical feature observed in this cohort. In addition, we hypothesize that a number of factors are likely to drive the pathogenesis of optic atrophy, retinal degeneration, and perhaps the associated systemic manifestations.
Fichier principal
Vignette du fichier
i1552-5783-62-6-2_1619781296.53172.pdf (3.09 Mo) Télécharger le fichier
Origine : Publication financée par une institution

Dates et versions

hal-03217351 , version 1 (04-05-2021)

Identifiants

Citer

Neringa Jurkute, Priya D Shanmugarajah, Marios Hadjivassiliou, Jenny Higgs, Miodrag Vojcic, et al.. Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature. Investigative Ophthalmology & Visual Science, 2021, 62 (6), pp.2. ⟨10.1167/iovs.62.6.2⟩. ⟨hal-03217351⟩
36 Consultations
52 Téléchargements

Altmetric

Partager

Gmail Facebook X LinkedIn More