Neuro-Ophthalmological Findings in Friedreich’s Ataxia

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Rojas Lozano, Pilar and Hoz Montañana, María Rosa de and Cadena Santoyo, Manuel and Salobrar García Martín, Elena and Fernández Albarral, José Antonio and López Cuenca, Inés and Elvira Hurtado, Lorena and Urcelay Segura, José Luis and Salazar Corral, Juan José and Ramirez Sebastian, Jose Manuel and Ramírez Sebastián, Ana Isabel (2021) Neuro-Ophthalmological Findings in Friedreich’s Ataxia. Journal of personalized medicine, 11 (708). ISSN 2075-4426

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Official URL: https://doi.org/10.3390/jpm11080708




Abstract

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


Item Type:Article
Additional Information:

Received: 6 June 2021 / Revised: 8 July 2021 / Accepted: 21 July 2021 / Published: 23 July 2021.

Uncontrolled Keywords:Friedreich ataxia; FRDA; Neurodegeneration; Neurological disability; Eye; Retina
Subjects:Medical sciences > Medicine > Neurosciences
Medical sciences > Medicine > Ophtalmology
ID Code:67886
Deposited On:21 Sep 2021 07:52
Last Modified:21 Sep 2021 12:42

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