{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"institution":[{"name":"Research Square"}],"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T06:50:12Z","timestamp":1747205412804,"version":"3.40.5"},"posted":{"date-parts":[[2021,6,8]]},"group-title":"In Review","reference-count":0,"publisher":"Springer Science and Business Media LLC","license":[{"start":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T00:00:00Z","timestamp":1623110400000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"accepted":{"date-parts":[[2021,5,29]]},"abstract":"<title>Abstract<\/title>\n        <p>IntroductionFriedreich ataxia is the most frequent hereditary ataxia worldwide. Subclinical visual and auditory involvement has been recognized in these patients, with co-occurrence of severe blindness and deafness being rare.Case ReportWe describe a patient, homozygous for a 873 GAA expansion in the <italic>FXN<\/italic> gene, whose first symptoms appeared by the age of 8. With 22 years-old he developed sensorineural deafness, and with 26 visual impairment. Deafness had a progressive course over eleven years, until a stage of extreme severity which hindered communication. Visual acuity had a catas\u00adtrophic deterioration, with blindness three years after visual impairment was first noticed. Audiograms documented progressive sensorineural deafness, most striking for low frequencies. Visual evoked poten\u00adtials disclosed bilaterally increased P100 latency. He passed away at the age of 41 years old, at a stage of extreme disability, blind and deaf, in addition to the com\u00adple\u00adte phenotype of a patient with Friedreich ataxia of more than 30 years durationDiscussion\ufeffSevere vision loss and extreme deafness has been described in very few patients with Friedreich ataxia. Long duration, severe disease and large expanded alleles may account for such an extreme phenotype; nonetheless, the role of factors as modifying genes warrants further investigation in this subset of patients.<\/p>","DOI":"10.21203\/rs.3.rs-573040\/v1","type":"posted-content","created":{"date-parts":[[2021,6,8]],"date-time":"2021-06-08T17:02:34Z","timestamp":1623171754000},"source":"Crossref","is-referenced-by-count":0,"title":["Blindness and Deafness \u2013 an Extreme Phenotype in Friedreich Ataxia"],"prefix":"10.21203","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6539-6398","authenticated-orcid":false,"given":"Joana","family":"Dam\u00e1sio","sequence":"first","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto EPE: Centro Hospitalar Universitario do Porto EPE"}]},{"given":"Ana","family":"Sardoeira","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto EPE: Centro Hospitalar Universitario do Porto EPE"}]},{"given":"Maria","family":"Ara\u00fajo","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto EPE: Centro Hospitalar Universitario do Porto EPE"}]},{"given":"Isabel","family":"Carvalho","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto EPE: Centro Hospitalar Universitario do Porto EPE"}]},{"given":"Jorge","family":"Sequeiros","sequence":"additional","affiliation":[{"name":"Instituto de Biologia Molecular e Cellular: Instituto de Biologia Molecular e Celular"}]},{"given":"Jos\u00e9","family":"Barros","sequence":"additional","affiliation":[{"name":"Centro Hospitalar Universit\u00e1rio do Porto EPE: Centro Hospitalar Universitario do Porto EPE"}]}],"member":"297","container-title":[],"original-title":[],"link":[{"URL":"https:\/\/www.researchsquare.com\/article\/rs-573040\/v1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.researchsquare.com\/article\/rs-573040\/v1.html","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,29]],"date-time":"2022-07-29T02:10:07Z","timestamp":1659060607000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.researchsquare.com\/article\/rs-573040\/v1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,6,8]]},"references-count":0,"URL":"https:\/\/doi.org\/10.21203\/rs.3.rs-573040\/v1","relation":{"is-preprint-of":[{"id-type":"doi","id":"10.1186\/s40673-021-00140-6","asserted-by":"subject"}]},"subject":[],"published":{"date-parts":[[2021,6,8]]},"subtype":"preprint"}}