Ocular and neurological manifestations of the FDXR-related disorder.

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.