Rojas Lozano, María Del PilarHoz Montañana, María Rosa DeCadena Santoyo, ManuelGarcía Martín, Elena SalobrarFernández Albarral, JoséLópez Cuenca, InésElvira Hurtado, LorenaUrcelay Segura, José LuisSalazar Corral, Juan JoséRamírez Sebastián, José ManuelRamírez Sebastián, Ana Isabel2023-06-162023-06-162021-07-23Rojas Lozano, P., Hoz Montañana, M. R., Cadena Santoyo, M. et al. «Neuro-Ophthalmological Findings in Friedreich’s Ataxia». Journal of Personalized Medicine, vol. 11, n.o 8, julio de 2021, p. 708. DOI.org (Crossref), https://doi.org/10.3390/jpm11080708.2075-442610.3390/jpm11080708https://hdl.handle.net/20.500.14352/4438Received: 6 June 2021 / Revised: 8 July 2021 / Accepted: 21 July 2021 / Published: 23 July 2021.Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral nervous system (PNS), affecting children and young adults. Its onset is before 25 years of age, with mean ages of onset and death between 11 and 38 years, respectively. The incidence is 1 in 30,000–50,000 persons. It is caused, in 97% of cases, by a homozygous guanine-adenine-adenine (GAA) trinucleotide mutation in the first intron of the frataxin (FXN) gene on chromosome 9 (9q13–q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system’s vulnerability to oxidative stress. The main clinical signs include spinocerebellar ataxia with sensory loss and disappearance of deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, and scoliosis. Diabetes, hearing loss, and pes cavus may also occur, and although most patients with FRDA do not present with symptomatic visual impairment, 73% present with clinical neuro-ophthalmological alterations such as optic atrophy and altered eye movement, among others. This review provides a brief overview of the main aspects of FRDA and then focuses on the ocular involvement of this pathology and the possible use of retinal biomarkers.engAtribución 3.0 Españahttps://creativecommons.org/licenses/by/3.0/es/journal articlehttps://doi.org/10.3390/jpm11080708https://www.mdpi.com/2075-4426/11/8/708open access617.731-003.8616.8‑009.26616.832.61Friedreich ataxiaFRDANeurodegenerationNeurological disabilityEyeRetinaNeurociencias (Medicina)Oftalmología2490 Neurociencias3201.09 Oftalmología