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

Layne N Rodden,Kellie McIntyre,Medina Keita,Mckenzie Wells,Courtney Park,Victoria Profeta,Amy Waldman,Christian Rummey,Laura J Balcer,David R Lynch

Annals of clinical and translational neurology（2023）

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摘要

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.

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