DOI: https://doi.org/10.36347/sjmcr.2026.v14i05.106

Pages: 1309-1315

Friedreich’s ataxia is an autosomal recessive neurodegenerative disorder caused by a GAA trinucleotide expansion in the FXN gene, leading to multisystem involvement including neurological, cardiac, and ophthalmologic manifestations. Visual impairment is mainly characterized by progressive optic neuropathy that may evolve toward severe optic atrophy. We report the case of a 34-year-old patient with genetically confirmed Friedreich’s ataxia presenting with progressive bilateral visual loss. Ophthalmologic examination revealed severely decreased visual acuity, bilateral horizontal nystagmus, and diffuse optic disc pallor suggestive of optic atrophy. Optical coherence tomography (OCT) demonstrated diffuse thinning of the retinal nerve fiber layer and ganglion cell complex. Automated visual field testing revealed diffuse depression of retinal sensitivity. The overall clinical and paraclinical findings were consistent with chronic optic neuropathy associated with Friedreich’s ataxia. Ophthalmologic complications of Friedreich’s ataxia mainly result from frataxin deficiency leading to mitochondrial dysfunction and oxidative stress affecting retinal ganglion cells and optic nerve fibers. OCT represents an essential tool for the structural evaluation of optic involvement and shows good correlation with neurological severity. To date, no specific neuroprotective treatment has demonstrated efficacy for visual impairment associated with Friedreich’s ataxia. Ophthalmologic involvement in Friedreich’s ataxia is frequent and potentially severe. Regular ophthalmologic follow-up based on functional assessment and OCT imaging allows better evaluation of optic neuropathy progression and contributes to optimal multidisciplinary management.