Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

Damásio, Joana; Sardoeira, Ana; Araújo, Maria; Carvalho, Isabel; Sequeiros, Jorge; Barros, José

Publication

Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report

2021-07Journal article

dc.contributor.author	Damásio, Joana
dc.contributor.author	Sardoeira, Ana
dc.contributor.author	Araújo, Maria
dc.contributor.author	Carvalho, Isabel
dc.contributor.author	Sequeiros, Jorge
dc.contributor.author	Barros, José
dc.date.accessioned	2023-12-21T11:43:43Z
dc.date.available	2023-12-21T11:43:43Z
dc.date.issued	2021-07
dc.description.abstract	Background: Friedreich 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 report: We describe a patient, homozygous for a 873 GAA expansion in the FXN gene, whose first symptoms appeared by the age of 8. At 22 years-old he developed sensorineural deafness, and at 26 visual impairment. Deafness had a progressive course over 11 years, until a stage of extreme severity which hindered communication. Visual acuity had a catastrophic deterioration, with blindness 3 years after visual impairment was first noticed. Audiograms documented progressive sensorineural deafness, most striking for low frequencies. Visual evoked potentials 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 complete phenotype of a patient with Friedreich ataxia of more than 30 years duration. Discussion: Severe 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.	pt_PT
dc.description.version	info:eu-repo/semantics/publishedVersion	pt_PT
dc.identifier.citation	Damásio J, Sardoeira A, Araújo M, Carvalho I, Sequeiros J, Barros J. Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report. Cerebellum Ataxias. 2021;8(1):17. doi:10.1186/s40673-021-00140-6	pt_PT
dc.identifier.doi	10.1186/s40673-021-00140-6	pt_PT
dc.identifier.issn	2053-8871
dc.identifier.uri	http://hdl.handle.net/10400.16/2900
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.publisher	BioMed Central	pt_PT
dc.relation.publisherversion	https://cerebellumandataxias.biomedcentral.com/articles/10.1186/s40673-021-00140-6	pt_PT
dc.rights.uri	http://creativecommons.org/licenses/by/4.0/	pt_PT
dc.subject	Blindness, deafness	pt_PT
dc.subject	Friedreich ataxia	pt_PT
dc.title	Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report	pt_PT
dc.type	journal article
dspace.entity.type	Publication
oaire.citation.conferencePlace	England	pt_PT
oaire.citation.issue	1	pt_PT
oaire.citation.startPage	17	pt_PT
oaire.citation.title	Cerebellum & Ataxias	pt_PT
oaire.citation.volume	8	pt_PT
person.familyName	Damásio
person.familyName	Sardoeira
person.familyName	DA ROCHA BARROS
person.givenName	Joana
person.givenName	Ana
person.givenName	JOSÉ FERNANDO
person.identifier	R-000-8A2
person.identifier.ciencia-id	8917-86CE-D005
person.identifier.ciencia-id	831F-E027-07F3
person.identifier.orcid	0000-0002-6539-6398
person.identifier.orcid	0000-0001-8325-5794
person.identifier.orcid	0000-0001-6183-5050
rcaap.rights	openAccess	pt_PT
rcaap.type	article	pt_PT
relation.isAuthorOfPublication	39f6b930-fd22-42f3-84e6-227d7af24dfb
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relation.isAuthorOfPublication.latestForDiscovery	39f6b930-fd22-42f3-84e6-227d7af24dfb