With this report we wish to further contribute to the characterization of optic and auditory involvement in FRDA, stress the need to better understand the underlying mechanisms, as well as their genetic and epigenetic modifying factors (including somatic heterogeneity); and increase awareness for this rare extreme phenotype. Improved healthcare services and longer survival of early-onset patients will probably increase the frequency of these devastating manifestations.
Sunday, July 18, 2021
Rare occurrence of severe blindness and deafness in Friedreich ataxia: a case report
Joana Damásio, Ana Sardoeira, Maria Araújo, Isabel Carvalho, Jorge Sequeiros & José Barros; Cerebellum & Ataxias volume 8, Article number: 17 (2021) doi:10.1186/s40673-021-00140-6
