{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:52:14Z","timestamp":1787028734100,"version":"build-2736575974"},"reference-count":87,"publisher":"MDPI AG","issue":"8","license":[{"start":{"date-parts":[[2021,7,23]],"date-time":"2021-07-23T00:00:00Z","timestamp":1626998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100004837","name":"Ministerio de Ciencia e Innovaci\u00f3n","doi-asserted-by":"publisher","award":["RED2018-102499-T"],"award-info":[{"award-number":["RED2018-102499-T"]}],"id":[{"id":"10.13039\/501100004837","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100014440","name":"Ministerio de Ciencia, Innovaci\u00f3n y Universidades","doi-asserted-by":"publisher","award":["FPU17\/01023"],"award-info":[{"award-number":["FPU17\/01023"]}],"id":[{"id":"10.13039\/100014440","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100002911","name":"Universidad Complutense de Madrid","doi-asserted-by":"publisher","award":["CT42\/18-CT43\/18"],"award-info":[{"award-number":["CT42\/18-CT43\/18"]}],"id":[{"id":"10.13039\/501100002911","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JPM"],"abstract":"<jats:p>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\u201350,000 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\u2013q1.1). The mutation of this gene causes a deficiency of frataxin, which induces an altered inflow of iron into the mitochondria, increasing the nervous system\u2019s 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.<\/jats:p>","DOI":"10.3390\/jpm11080708","type":"journal-article","created":{"date-parts":[[2021,7,25]],"date-time":"2021-07-25T22:06:21Z","timestamp":1627250781000},"page":"708","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["Neuro-Ophthalmological Findings in Friedreich\u2019s Ataxia"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9137-2261","authenticated-orcid":false,"given":"Pilar","family":"Rojas","sequence":"first","affiliation":[{"name":"Hospital General Universitario Gregorio Mara\u00f1\u00f3n, Instituto Oft\u00e1lmico de Madrid, 28007 Madrid, Spain"},{"name":"Instituto de Investigaciones Oftalmol\u00f3gicas Ram\u00f3n Castroviejo, Universidad Complutense de Madrid, IdISSC, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1581-087X","authenticated-orcid":false,"given":"Rosa","family":"de Hoz","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Oftalmol\u00f3gicas Ram\u00f3n Castroviejo, Universidad Complutense de Madrid, IdISSC, 28040 Madrid, Spain"},{"name":"Departamento de Inmunolog\u00eda, Oftalmolog\u00eda y ORL, Facultad de \u00d3ptica y Optometr\u00eda, Universidad Complutense de Madrid, 28037 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuel","family":"Cadena","sequence":"additional","affiliation":[{"name":"Hospital General Universitario Gregorio Mara\u00f1\u00f3n, Instituto Oft\u00e1lmico de Madrid, 28007 Madrid, 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Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0511-515X","authenticated-orcid":false,"given":"In\u00e9s","family":"L\u00f3pez-Cuenca","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Oftalmol\u00f3gicas Ram\u00f3n Castroviejo, Universidad Complutense de Madrid, IdISSC, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lorena","family":"Elvira-Hurtado","sequence":"additional","affiliation":[{"name":"Instituto de Investigaciones Oftalmol\u00f3gicas Ram\u00f3n Castroviejo, Universidad Complutense de Madrid, IdISSC, 28040 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jos\u00e9 L.","family":"Urcelay-Segura","sequence":"additional","affiliation":[{"name":"Hospital General Universitario Gregorio Mara\u00f1\u00f3n, Instituto Oft\u00e1lmico de Madrid, 28007 Madrid, Spain"},{"name":"Departamento de Inmunolog\u00eda, Oftalmolog\u00eda y ORL, 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therapy","volume":"59","author":"Lynch","year":"2002","journal-title":"Arch. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"1423","DOI":"10.1126\/science.271.5254.1423","article-title":"Friedreich\u2019s ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion","volume":"271","author":"Campuzano","year":"1996","journal-title":"Science"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"2327","DOI":"10.1517\/14656566.9.13.2327","article-title":"Idebenone in Friedreich\u2019s ataxia","volume":"9","author":"Tonon","year":"2008","journal-title":"Expert Opin. Pharmacother."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"118","DOI":"10.1097\/WNO.0000000000000068","article-title":"Optical Coherence Tomography and Visual Field Findings in Patients With Friedreich Ataxia","volume":"34","year":"2014","journal-title":"J. Neuro-Ophthalmology"},{"key":"ref_5","first-page":"1","article-title":"Clinical features and classification of inherited ataxias","volume":"61","author":"Harding","year":"1993","journal-title":"Adv. Neurol."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1016\/j.survophthal.2009.10.002","article-title":"The Neuro-ophthalmology of Mitochondrial Disease","volume":"55","author":"Fraser","year":"2010","journal-title":"Surv. Ophthalmol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"3","DOI":"10.1007\/s00415-009-1002-3","article-title":"Friedreich ataxia: The clinical picture","volume":"256","author":"Pandolfo","year":"2009","journal-title":"J. Neurol."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1097\/NEN.0b013e31827e5762","article-title":"Friedreich Ataxia: Neuropathology Revised","volume":"72","author":"Koeppen","year":"2013","journal-title":"J Neuropathol Exp Neurol"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"200","DOI":"10.1002\/1531-8249(199902)45:2<200::AID-ANA10>3.0.CO;2-U","article-title":"Friedreich\u2019s ataxia: Point mutations and clinical presentation of compound heterozygotes","volume":"45","author":"Schmitt","year":"1999","journal-title":"Ann. Neurol."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1771","DOI":"10.1093\/hmg\/6.11.1771","article-title":"Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes","volume":"6","author":"Campuzano","year":"1997","journal-title":"Hum. Mol. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1093\/brain\/awn269","article-title":"Visual system involvement in patients with Friedreich\u2019s ataxia","volume":"132","author":"Fortuna","year":"2009","journal-title":"Brain"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"518","DOI":"10.1016\/j.bbabio.2009.02.024","article-title":"Retinal ganglion cell neurodegeneration in mitochondrial inherited disorders","volume":"1787","author":"Carelli","year":"2009","journal-title":"Biochim. Biophys. Acta Bioenerg."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"1582","DOI":"10.1001\/archopht.121.11.1582","article-title":"Pathophysiology of the Optic Neuropathy Associated With Friedreich Ataxia","volume":"121","author":"Alldredge","year":"2003","journal-title":"Arch. Ophthalmol."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"2179","DOI":"10.1212\/WNL.43.11.2179","article-title":"Friedreich\u2019s ataxia phenotype not linked to chromosome 9 and associated with selective autosomal recessive vitamin E deficiency in two inbred Tunisian families","volume":"43","author":"Belal","year":"1993","journal-title":"Neurology"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"346","DOI":"10.1007\/s004150050601","article-title":"Typical Friedreich\u2019s ataxia without GAA expansions and GAA expansions without typical Friedreich\u2019s ataxia","volume":"247","author":"McCabe","year":"2000","journal-title":"J. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"589","DOI":"10.1093\/brain\/104.3.589","article-title":"Friedreich\u2019s ataxia: A clinical and genetic study of 90 families with an analysis of early diagnostic criteria and intrafamilial clustering of clinical features","volume":"104","author":"Harding","year":"1981","journal-title":"Brain a J. Neurol."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1136\/jnnp.57.1.51","article-title":"Magnetic resonance imaging in degenerative ataxic disorders","volume":"57","author":"Ormerod","year":"1994","journal-title":"Neurosurg. Psychiatry"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"1865","DOI":"10.1001\/archneur.62.12.1865","article-title":"Late-onset Friedreich Ataxia: Phenotypic analysis, magnetic resonance imaging findings, and review of the literature","volume":"62","author":"Bhidayasiri","year":"2005","journal-title":"Arch. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1007\/s12311-010-0232-3","article-title":"Superior cerebellar peduncle atrophy in Friedreich\u2019s ataxia correlates with disease symptoms","volume":"10","author":"Akhlaghi","year":"2011","journal-title":"Cerebellum"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1007\/s12311-012-0390-6","article-title":"Spinal cord atrophy correlates with disability in Friedreich\u2019s ataxia","volume":"12","author":"Chevis","year":"2013","journal-title":"Cerebellum"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"1376","DOI":"10.1038\/eye.2013.201","article-title":"Optical coherence tomography findings in spinocerebellar ataxia-3","volume":"27","author":"Alvarez","year":"2013","journal-title":"Eye"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2362","DOI":"10.1007\/s00415-013-6978-z","article-title":"Analysis of the visual system in Friedreich ataxia","volume":"260","author":"Seyer","year":"2013","journal-title":"J. Neurol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.jns.2011.01.010","article-title":"Friedreich\u2019s ataxia: Pathology, pathogenesis, and molecular genetics","volume":"303","author":"Koeppen","year":"2011","journal-title":"J. Neurol. Sci."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"782","DOI":"10.1007\/s00415-009-5410-1","article-title":"Impairment in motor reprogramming in Friedreich ataxia reflecting possible cerebellar dysfunction","volume":"257","author":"Corben","year":"2010","journal-title":"J. Neurol."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1177\/0883073812453498","article-title":"Unanswered Questions in Friedreich Ataxia","volume":"27","author":"Lynch","year":"2012","journal-title":"J. Child Neurol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"971","DOI":"10.1002\/ana.23698","article-title":"Central role and mechanisms of \u03b2-cell dysfunction and death in friedreich ataxia-associated diabetes","volume":"72","author":"Cnop","year":"2012","journal-title":"Ann. Neurol."},{"key":"ref_27","first-page":"554","article-title":"The relationship between trinucleotide (GAA) repeat length and clinical features in Friedreich ataxia","volume":"59","author":"Filla","year":"1996","journal-title":"Am. J. Hum. Genet."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1022","DOI":"10.1136\/jmg.33.12.1022","article-title":"A general method for the detection of large GAG repeat expansions by fluorescent PCR","volume":"33","author":"Warner","year":"1996","journal-title":"J. Med. Genet."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1056\/NEJM199610173351601","article-title":"Clinical and genetic abnormalities in patients with Friedreich\u2019s ataxia","volume":"335","author":"Yves","year":"1996","journal-title":"N. Engl. J. Med."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1086\/321283","article-title":"Friedreich Ataxia: From GAA Triplet-Repeat Expansion to Frataxin Deficiency","volume":"69","author":"Patel","year":"2001","journal-title":"Am. J. Hum. Genet"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"924","DOI":"10.2337\/diabetes.48.4.924","article-title":"Altered \u03b2-cell characteristics in impaired glucose tolerant carriers of a GAA trinucleotide repeat polymorphism in the frataxin gene","volume":"48","author":"Ruige","year":"1999","journal-title":"Diabetes"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"914","DOI":"10.2337\/diabetes.48.4.914","article-title":"Intermediate expansions of a GAA repeat in the frataxin gene are not associated with type 2 diabetes or altered glucose induced \u03b2-cell function in Danish Caucasians","volume":"48","author":"Dalgaard","year":"1999","journal-title":"Diabetes"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"551","DOI":"10.1038\/nchembio815","article-title":"Histone deacetylase inhibitors reverse gene silencing in Friedreich\u2019s ataxia","volume":"2","author":"Herman","year":"2006","journal-title":"Nat. Chem. Biol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1007\/s004399900201","article-title":"Genotype and phenotype analysis of Friedreich\u2019s ataxia compound heterozygous patients","volume":"106","author":"Urtasun","year":"2000","journal-title":"Hum. Genet."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"253","DOI":"10.1007\/s100480050037","article-title":"The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene","volume":"1","author":"Forrest","year":"1998","journal-title":"Neurogenetics"},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"661","DOI":"10.1136\/jnnp.68.5.661","article-title":"Frataxin point mutations in two patients with Friedreich\u2019s ataxia and unusual clinical features","volume":"68","author":"Mccormack","year":"2000","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1007\/s004399900142","article-title":"G130V, a common FRDA point mutation, appears to have arisen from a common founder","volume":"105","author":"Delatycki","year":"1999","journal-title":"Hum. Genet."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"2026","DOI":"10.1002\/mds.22248","article-title":"Predictors of progression in patients with Friedreich ataxia","volume":"23","author":"Jeffries","year":"2008","journal-title":"Mov. Disord."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1093\/brain\/103.2.413","article-title":"The incidence and nature of visual pathway involvement in Friedreich\u2019s ataxia. A clinical and visual evoked potential study of 22 patients","volume":"103","author":"Carroll","year":"1980","journal-title":"Brain"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"75","DOI":"10.1001\/archneur.1981.00510020033003","article-title":"Visual Involvement in Friedreich\u2019s Ataxia and Hereditary Spastic Ataxia: A Clinical and Visual Evoked Response Study","volume":"38","author":"Livingstone","year":"1981","journal-title":"Arch. Neurol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"1144","DOI":"10.1038\/sj.eye.6701591","article-title":"Hereditary optic neuropathies","volume":"18","author":"Newman","year":"2004","journal-title":"Eye"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"573","DOI":"10.1016\/S0197-0186(01)00129-2","article-title":"Optic nerve degeneration and mitochondrial dysfunction: Genetic and acquired optic neuropathies","volume":"40","author":"Carelli","year":"2002","journal-title":"Neurochem. Int."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"246","DOI":"10.1159\/000116277","article-title":"Visual Involvement in Friedreich\u2019s Ataxia: PERG and VEP Study","volume":"28","author":"Pinto","year":"1988","journal-title":"Eur. Neurol."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"1035","DOI":"10.1093\/brain\/awm323","article-title":"Vestibular, saccadic and fixation abnormalities in genetically confirmed Friedreich ataxia","volume":"131","author":"Fahey","year":"2008","journal-title":"Brain"},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1016\/S0002-9394(14)77738-4","article-title":"Square wave jerks in Friedreich\u2019s ataxia","volume":"85","author":"Dale","year":"1978","journal-title":"Am. J. Ophthalmol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1001\/archneur.1983.04050060043006","article-title":"Eye movements in Friedreich\u2019s ataxia","volume":"40","author":"Furman","year":"1983","journal-title":"Arch. Neurol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1007\/s12311-010-0178-5","article-title":"Ocular Motor Fixation Deficits in Friedreich Ataxia","volume":"9","author":"Hocking","year":"2010","journal-title":"Cerebellum"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1017\/S0317167100119584","article-title":"Oculomotor abnormalities in Friedreich\u2019s ataxia","volume":"6","author":"Kirkham","year":"1979","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"517","DOI":"10.1007\/BF00867423","article-title":"Fixation instability and oculomotor abnormalities in Friedreich\u2019s ataxia","volume":"242","author":"Spieker","year":"1995","journal-title":"J. Neurol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"108","DOI":"10.1016\/S0002-9394(14)71000-1","article-title":"Ophthalmologic findings in patients with ataxia","volume":"123","author":"Rabiah","year":"1997","journal-title":"Am. J. Ophthalmol."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"243","DOI":"10.1002\/ana.410090307","article-title":"Pattern-reversal visual evoked potentials in the hereditary ataxias and spinal degenerations","volume":"9","author":"Bird","year":"1981","journal-title":"Ann. Neurol."},{"key":"ref_52","first-page":"131","article-title":"Visually evoked potentials in Friedreich\u2019s ataxia","volume":"32","author":"Wenzel","year":"1982","journal-title":"Adv. Neurol."},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"270","DOI":"10.1097\/00041327-200212000-00003","article-title":"Contrast letter acuity as a measure of visual dysfunction in patients with Friedreich ataxia","volume":"22","author":"Lynch","year":"2002","journal-title":"J. Neuro-Ophthalmol."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"163","DOI":"10.1177\/135245850000600305","article-title":"New low-contrast vision charts: Reliability and test characteristics in patients with multiple sclerosis","volume":"6","author":"Balcer","year":"2000","journal-title":"Mult. Scler. J."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1038\/eye.2011.291","article-title":"Ophthalmic features of Friedreich ataxia","volume":"26","author":"Noval","year":"2012","journal-title":"Eye"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"e250","DOI":"10.1212\/NXG.0000000000000250","article-title":"Longitudinal analysis of contrast acuity in Friedreich ataxia","volume":"4","author":"Hamedani","year":"2018","journal-title":"Neurol. Genet."},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"306","DOI":"10.1001\/archneur.1984.04050150084022","article-title":"Neuropsychologic Findings in Friedreich\u2019s Ataxia","volume":"41","author":"Fehrenbach","year":"1984","journal-title":"Arch. Neurol."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1002\/1531-8249(199907)46:1<123::AID-ANA19>3.0.CO;2-H","article-title":"Increased iron in the dentate nucleus of patients with Friedreich\u2019s ataxia","volume":"46","author":"Waldvogel","year":"1999","journal-title":"Ann. Neurol."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"164","DOI":"10.1111\/j.1749-6632.2002.tb02817.x","article-title":"Distributed model of collicular and cerebellar function during saccades","volume":"956","author":"Optican","year":"2002","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"394","DOI":"10.1212\/01.wnl.0000227890.87398.c1","article-title":"Saccades in presymptomatic and early stages of Huntington disease","volume":"67","author":"Blekher","year":"2006","journal-title":"Neurology"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"2478","DOI":"10.1167\/iovs.05-1311","article-title":"Horizontal saccade dynamics across the human life span","volume":"47","author":"Irving","year":"2006","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"Leigh, R.J., and Zee, D.S. (2015). The Neurology of Eye Movements, Oxford University Press. [5th ed.].","DOI":"10.1093\/med\/9780199969289.001.0001"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1002\/ana.410050502","article-title":"A hypothetical explanation of saccadic oscillations","volume":"5","author":"Zee","year":"1979","journal-title":"Ann. Neurol."},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"413","DOI":"10.1002\/ana.1140","article-title":"Ocular flutter associated with a localized lesion in the paramedian pontine reticular formation","volume":"50","author":"Schon","year":"2001","journal-title":"Ann. Neurol."},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"1230","DOI":"10.1212\/WNL.36.9.1230","article-title":"Multisystem degeneration: Drugs and square wave jerks","volume":"36","author":"Fukazawa","year":"1986","journal-title":"Neurology"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1212\/WNL.32.1.31","article-title":"Cerebellar control of fixation eye movements","volume":"32","author":"Hotson","year":"1982","journal-title":"Neurology"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/brain\/117.1.15","article-title":"Comparison of oculomotor findings in the progressive ataxia syndromes","volume":"117","author":"Moschner","year":"1994","journal-title":"Brain"},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"89","DOI":"10.1007\/s00221-004-1989-8","article-title":"Ocular oscillations generated by coupling of brainstem excitatory and inhibitory saccadic burst neurons","volume":"160","author":"Ramat","year":"2005","journal-title":"Exp. Brain Res."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"2675","DOI":"10.1016\/j.visres.2004.05.009","article-title":"Characteristics of saccadic intrusions","volume":"44","author":"Abadi","year":"2004","journal-title":"Vis. Res."},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"570","DOI":"10.1017\/S031716710003506X","article-title":"Follow-up study of electronystagmographic findings in friedreich\u2019s ataxia patients and evaluation of their relatives","volume":"11","author":"Monday","year":"1984","journal-title":"Can. J. Neurol. Sci."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"26","DOI":"10.1136\/jnnp.47.1.26","article-title":"Neuro-otological abnormalities in Friedreich\u2019s ataxia","volume":"47","author":"Ell","year":"1984","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"949","DOI":"10.1001\/archneur.55.7.949","article-title":"Oculomotor testing in the differential diagnosis of degenerative ataxic disorders","volume":"55","author":"Wessel","year":"1998","journal-title":"Arch. Neurol."},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"381","DOI":"10.1007\/s00415-004-0410-7","article-title":"Vision and vertigo: Some visual aspects of vestibular disorders","volume":"251","author":"Bronstein","year":"2004","journal-title":"J. Neurol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1212\/01.wnl.0000232764.18332.b6","article-title":"The eyes as a window into disease prevention","volume":"67","author":"Biglan","year":"2006","journal-title":"Neurology"},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1038\/ncpneuro0446","article-title":"Ataxia rating scales in the balance","volume":"3","author":"Pulst","year":"2007","journal-title":"Nat. Clin. Pract. Neurol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.preteyeres.2003.10.003","article-title":"Mitochondrial dysfunction as a cause of optic neuropathies","volume":"23","author":"Carelli","year":"2004","journal-title":"Prog. Retin. Eye Res."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1136\/jmg.2007.054270","article-title":"Inherited mitochondrial optic neuropathies","volume":"46","author":"Griffiths","year":"2008","journal-title":"J. Med. Genet."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"843","DOI":"10.1016\/j.ophtha.2017.01.002","article-title":"Natural History of Conversion of Leber\u2019s Hereditary Optic Neuropathy","volume":"124","author":"Hwang","year":"2017","journal-title":"Ophthalmology"},{"key":"ref_79","doi-asserted-by":"crossref","unstructured":"Rojas, P., Ram\u00edrez, A.I., de Hoz, R., Cadena, M., Ferreras, A., Monsalve, B., Salobrar-Garc\u00eda, E., Mu\u00f1oz-Blanco, J.L., Urcelay-Segura, J.L., and Salazar, J.J. (2020). Ocular Involvement in Friedreich Ataxia Patients and Its Relationship with Neurological Disability, a Follow-Up Study. Diagnostics, 10.","DOI":"10.3390\/diagnostics10020075"},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"e23","DOI":"10.1093\/brain\/awz117","article-title":"Peripapillary retinal nerve fibre layer thickness in Friedreich\u2019s ataxia: A biomarker for trials?","volume":"142","author":"Parkinson","year":"2019","journal-title":"Brain"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1002\/cne.903000103","article-title":"Topography of ganglion cells in human retina","volume":"300","author":"Curcio","year":"1990","journal-title":"J. Comp. Neurol."},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"238","DOI":"10.1002\/(SICI)1096-9861(19961111)375:2<238::AID-CNE5>3.0.CO;2-3","article-title":"Retinotopy of the human retinal nerve fibre layer and optic nerve head","volume":"375","author":"Fitzgibbon","year":"1996","journal-title":"J. Comp. Neurol."},{"key":"ref_83","first-page":"85","article-title":"Nerve fiber layer of the macaque retina: Retinotopic organization","volume":"24","author":"Ogden","year":"1983","journal-title":"Investig. Ophthalmol. Vis. Sci."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"710","DOI":"10.3389\/fneur.2017.00710","article-title":"Patterns of Retinal Ganglion Cell Damage in Neurodegenerative Disorders: Parvocellular vs Magnocellular Degeneration in Optical Coherence Tomography Studies","volume":"8","author":"Carelli","year":"2017","journal-title":"Front. Neurol."},{"key":"ref_85","first-page":"141","article-title":"Characterization of the retinal pigment epithelium in Friedreich ataxia","volume":"4","author":"Crombie","year":"2015","journal-title":"Biochem. Biophys. Rep."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"e30054","DOI":"10.7554\/eLife.30054","article-title":"Inducible and reversible phenotypes in a novel mouse model of Friedreich\u2019s ataxia","volume":"6","author":"Chandran","year":"2017","journal-title":"eLife"},{"key":"ref_87","first-page":"2507","article-title":"Photoreceptor inner segment ellipsoid band integrity on spectral domain optical coherence tomography","volume":"8","author":"Saxena","year":"2014","journal-title":"Clin. Ophthalmol."}],"container-title":["Journal of Personalized Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2075-4426\/11\/8\/708\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T06:34:15Z","timestamp":1760164455000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2075-4426\/11\/8\/708"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,7,23]]},"references-count":87,"journal-issue":{"issue":"8","published-online":{"date-parts":[[2021,8]]}},"alternative-id":["jpm11080708"],"URL":"https:\/\/doi.org\/10.3390\/jpm11080708","relation":{},"ISSN":["2075-4426"],"issn-type":[{"value":"2075-4426","type":"electronic"}],"subject":[],"published":{"date-parts":[[2021,7,23]]}}}