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

Cerebellum & Ataxias

Ana Sardoeira¹  José Barros²  Joana Damásio³  Maria Araújo⁴  Isabel Carvalho⁵  Jorge Sequeiros⁶ 

[1] Department of Neurology, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Largo do Professor Abel Salazar, 4099-001, Porto, Portugal;Department of Neurology, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Largo do Professor Abel Salazar, 4099-001, Porto, Portugal;ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-313, Porto, Portugal;Department of Neurology, Hospital de Santo António, Centro Hospitalar Universitário do Porto, Largo do Professor Abel Salazar, 4099-001, Porto, Portugal;UnIGENe and CGPP, IBMC – Institute for Molecular and Cell Biology, i3S – Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal;Department of Ophtalmology, Hospital de Santo António, Centro Hospitalar Universitário do Porto, 4099-001, Porto, Portugal;Department of Otorhinolaryngology, Hospital de Santo António, Centro Hospitalar Universitário do Porto, 4099-001, Porto, Portugal;UnIGENe and CGPP, IBMC – Institute for Molecular and Cell Biology, i3S – Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135, Porto, Portugal;ICBAS - Instituto de Ciências Biomédicas Abel Salazar, Universidade do Porto, 4050-313, Porto, Portugal;

关键词: Friedreich ataxia;    Blindness, deafness;   

DOI  :  10.1186/s40673-021-00140-6

来源: Springer

【 摘 要 】

BackgroundFriedreich 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 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.DiscussionSevere 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.

【 授权许可】

CC BY