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

• Published in: Diagnostics (Basel) Vol. 12; no. 12; p. 3135
• Main Authors: Ziccardi, Lucia, Barbano, Lucilla, Antonelli, Giulio, Cioffi, Ettore, Di Renzo, Antonio, Gioiosa, Valeria, Marcotulli, Christian, Grzybowski, Andrzej, Casali, Carlo, Parisi, Vincenzo
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.12.2022; MDPI
• Subjects: Ataxia; Cardiomyopathy; carriers; Development and progression; Diabetes; Diabetic retinopathy; Disease; Dysarthria; ERG; Families & family life; Friedreich; Friedreich's ataxia; Health aspects; Hearing loss; mfERG; Morphology; Nervous system diseases; Optic nerve; Oxidative stress; Retina; VEP; Visual acuity; Visual perception; Italy; VEP; OCT; ataxia; Friedreich; carriers; ERG; mfERG; PERG

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...