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

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 potential

SUBMITTER: Damasio J 

PROVIDER: S-EPMC8283931 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature