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Article

Ocular and neurological manifestations of the FDXR-related disorder.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Feb 2025

Kaler Andrew, Couser Natario

Abstract excerpt

The FDXR-related disorder is caused by pathogenic variants in the FDXR gene. Including our case, a total of 47 patients have been reported. The most common genotypes are the homozygous c.1174C>T (p.R392W) variant and homozygous c.916C>T (p.R306C) variant. Optic atrophy is the most common feature (89%), but many other ocular manifestations have not previously been characterized. Our review of the existing...

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Cataract
Eye Diseases
Hearing Loss, Sensorineural
Mutation
Nystagmus, Pathologic

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Identifiers

PMID: 39746537
DOI: 10.1016/j.jaapos.2024.104102

Genes

FDXR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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