Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia

Retinal and Visual Pathways Involvement in Carriers of Friedreich’s Ataxia

Friedreich’s ataxia (FRDA) is a rare autosomal recessive neurodegenerative disorder due to the homozygous pathological expansion of guanine-adenine-adenine (GAA) triplet repeats in the first intron of the FXN gene, which encodes for the mitochondrial protein frataxin. In the visual system, the typic...

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Bibliographic Details
Main Authors: Lucia Ziccardi, Lucilla Barbano, Giulio Antonelli, Ettore Cioffi, Antonio Di Renzo, Valeria Gioiosa, Christian Marcotulli, Andrzej Grzybowski, Carlo Casali, Vincenzo Parisi
Format: Article
Language:English
Published: MDPI AG 2022-12-01
Series:Diagnostics
Subjects:
Friedreich
ataxia
carriers
ERG
mfERG
VEP
Online Access:https://www.mdpi.com/2075-4418/12/12/3135

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