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Updated: Jun 4, 2025

Author Spotlight: Ex Vivo OCT-Based Multimodal Imaging of Human Donor Eyes for Research into Age-Related Macular Degeneration
Published on: May 26, 2023
Ocular and neurological manifestations of the FDXR-related disorder
Andrew Kaler1, Natario Couser2
1Virginia Commonwealth University School of Medicine, Virginia, Richmond.
Abstract:
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 literature reveals other common ocular findings of myopia, nystagmus, strabismus, retinal dystrophy, attenuation of retinal vessels, and cataracts. Common neurological symptoms include movement disorder, sensorineural hearing loss, developmental delay/regression, and hypotonia.
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