Neuro-Ophthalmological Findings in Friedreich’s Ataxia

نویسندگان

چکیده

Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by severe autosomal recessive genetic disorder of the central nervous (CNS) and peripheral system (PNS), affecting children young adults. Its onset before 25 years age, with mean ages death between 11 38 years, respectively. The incidence 1 in 30,000–50,000 persons. It caused, 97% cases, homozygous guanine-adenine-adenine (GAA) trinucleotide mutation first intron frataxin (FXN) gene on chromosome 9 (9q13–q1.1). this causes deficiency frataxin, which induces an altered inflow iron into mitochondria, increasing system’s vulnerability to oxidative stress. main clinical signs include spinocerebellar sensory loss disappearance deep tendon reflexes, cerebellar dysarthria, cardiomyopathy, scoliosis. Diabetes, hearing loss, pes cavus may also occur, although most patients FRDA do not present symptomatic visual impairment, 73% neuro-ophthalmological alterations such as optic atrophy eye movement, among others. This review provides brief overview aspects then focuses ocular involvement pathology possible use retinal biomarkers.

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ژورنال

عنوان ژورنال: Journal of Personalized Medicine

سال: 2021

ISSN: ['2075-4426']

DOI: https://doi.org/10.3390/jpm11080708