{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T11:44:47Z","timestamp":1785930287868,"version":"3.56.0"},"reference-count":59,"publisher":"MDPI AG","issue":"15","license":[{"start":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T00:00:00Z","timestamp":1785888000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"AISA"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J. Clin. Med.","JCM"],"abstract":"<jats:p>Objectives: Visual Evoked Potential (VEP) abnormalities in Friedreich Ataxia (FA) may result from dysfunction of retinal ganglion cells (RGC), post-retinal visual pathways, or both. Therefore, we aimed to clarify whether in Friedreich Ataxia (FA), abnormal neural conduction is due to dysfunctional RGC, impaired conduction along the post-retinal visual pathways, or both. The secondary aim of the study was to clarify the relationship between a possible RGC and\/or post-retinal dysfunction and the patient\u2019s age, age at disease onset, and disease duration. Method: Fourteen FA patients (14 eyes; mean age 38.64 \u00b1 8.21 years) without functional or structural macular abnormalities, confirmed by multifocal electroretinogram (mfERG) and spectral domain\u2013optical coherence tomography (SD-OCT), and 20 age-matched healthy controls were enrolled. Patients were classified as late-onset (FA1, disease onset &gt; 25 years) or early-onset (FA2, disease onset &lt; 25 years). All participants underwent comprehensive ophthalmological and neurological evaluations. RGC function and visual pathway conduction were assessed through simultaneous pattern electroretinogram (PERG) and VEP recordings using 60\u2032 and 15\u2032 checkerboard stimuli. Retino-cortical time (RCT) was calculated as the difference between VEP P100 and PERG P50 implicit times. Statistical analyses included a general linear model. Results: 60\u2032 PERG amplitude (A) was significantly (p &lt; 0.01) reduced in the FA group compared to the Control group. FA patients showed significantly delayed 60\u2032 and 15\u2032 VEP ITs and significantly increased 60\u2032 and 15\u2032 RCT values, particularly in the FA1 group. In late-onset patients, no significant relationships were found between age at onset of disease and all electrophysiological parameters (60\u2032 and 15\u2032 VEP and PERG ITs and As and RCTs). Conclusions: In our selected FA, RCG function and neural conduction along the post-retinal visual pathways are impaired. The abnormal neuronal conduction is greater in late-onset FA patients and is not related to patients\u2019 age and the age at the onset of the disease. The duration of the disease has a slight effect on the post-retinal neural conduction on small optic nerve fibers.<\/jats:p>","DOI":"10.3390\/jcm15156097","type":"journal-article","created":{"date-parts":[[2026,8,5]],"date-time":"2026-08-05T10:41:42Z","timestamp":1785926502000},"page":"6097","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Visual Pathways Involvement in Friedreich\u2019s Ataxia Patients Without Macular Impairment"],"prefix":"10.3390","volume":"15","author":[{"given":"Vincenzo","family":"Parisi","sequence":"first","affiliation":[{"name":"IRCCS\u2014Fondazione Bietti, Via Livenza 3, 00198 Rome, Italy"},{"name":"Departmental Faculty of Medicine, UniCamillus-Saint Camillus International University of Health Sciences, 00131 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5120-8635","authenticated-orcid":false,"given":"Lucilla","family":"Barbano","sequence":"additional","affiliation":[{"name":"IRCCS\u2014Fondazione Bietti, Via Livenza 3, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Di Renzo","sequence":"additional","affiliation":[{"name":"IRCCS\u2014Fondazione Bietti, Via Livenza 3, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4395-0818","authenticated-orcid":false,"given":"Carmen","family":"Dell\u2019Aquila","sequence":"additional","affiliation":[{"name":"IRCCS\u2014Fondazione Bietti, Via Livenza 3, 00198 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9074-3964","authenticated-orcid":false,"given":"Mattia","family":"D\u2019Andrea","sequence":"additional","affiliation":[{"name":"Department of Sense Organs, Faculty of Medicine and Dentistry, Sapienza University of Rome, Viale del Policlinico 155, 00161 Rome, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angela Maria","family":"Castelluzzo","sequence":"additional","affiliation":[{"name":"Department of Medicine and Health Sciences \u201cV. Tiberio\u201d, University of Molise, Via F. De Sanctis 1, 86100 Campobasso, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gaspare","family":"Colacino","sequence":"additional","affiliation":[{"name":"UOC Oftalmologia\u2014San Giovanni Evangelista Hospital Tivoli, Via Antonio Parrozzani, 3 00019 Tivoli, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Valeria","family":"Gioiosa","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, 04100 Latina, Italy"},{"name":"Neurogenetics Unit, Reference Center for Neurogenetic Disorders (BRAIN-TEAM Network), INCIA, CNRS UMR 5287, Bordeaux University, 33000 Bordeaux, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8510-6925","authenticated-orcid":false,"given":"Gianluca","family":"Coppola","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, 04100 Latina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlo","family":"Casali","sequence":"additional","affiliation":[{"name":"Department of Medical and Surgical Sciences and Biotechnologies, Sapienza University of Rome, Corso della Repubblica 79, 04100 Latina, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5563-1243","authenticated-orcid":false,"given":"Lucia","family":"Ziccardi","sequence":"additional","affiliation":[{"name":"IRCCS\u2014Fondazione Bietti, Via Livenza 3, 00198 Rome, Italy"},{"name":"Department of Medicine and Health Sciences \u201cV. Tiberio\u201d, University of Molise, Via F. De Sanctis 1, 86100 Campobasso, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,8,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Rojas, P., de Hoz, R., Cadena, M., Salobrar-Garc\u00eda, E., Fern\u00e1ndez-Albarral, J.A., L\u00f3pez-Cuenca, I., Elvira-Hurtado, L., Urcelay-Segura, J.L., Salazar, J.J., and Ram\u00edrez, J.M. (2021). Neuro-Ophthalmological Findings in Friedreich\u2019s Ataxia. J. Pers. 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