Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia.

Layne N RoddenKellie McIntyreMedina KeitaMckenzie WellsCourtney ParkVictoria ProfetaAmy WaldmanChristian RummeyLaura J BalcerDavid R Lynch

Published in: Annals of clinical and translational neurology (2023)

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.

Keyphrases

optic nerve
end stage renal disease
optical coherence tomography
ejection fraction
chronic kidney disease
oxidative stress
peritoneal dialysis
prognostic factors
combination therapy
patient reported outcomes