Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia

Rodden, L.N., McIntyre, K., Keita, M., Wells, M., Park, C., Profeta, V., Waldman, A., Rummey, C., Balcer, L.J. and Lynch, D.R. (2023), Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia. Ann Clin Transl Neurol. doi:10.1002/acn3.51830 

 These data suggest that both hypoplasia and subsequent degeneration of the RNFL may be responsible for the optic nerve dysfunction in FRDA and support the development of a vision-directed treatment for selected patients early in the disease to prevent RNFL loss from reaching the critical threshold