RT Journal Article
T1 Neuro-Ophthalmological Findings in Friedreich’s Ataxia
A1 Rojas Lozano, Pilar
A1 Hoz Montañana, María Rosa de
A1 Cadena Santoyo, Manuel
A1 García Martín, Elena Salobrar
A1 Fernández Albarral, José Antonio
A1 López Cuenca, Inés
A1 Elvira Hurtado, Lorena
A1 Urcelay Segura, José Luis
A1 Salazar Corral, Juan José
A1 Ramirez Sebastian, Jose Manuel
A1 Ramírez Sebastián, Ana Isabel
AB 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.
PB MDPI
SN 2075-4426
YR 2021
FD 2021-07-23
LK https://hdl.handle.net/20.500.14352/4438
UL https://hdl.handle.net/20.500.14352/4438
LA eng
NO Received: 6 June 2021 / Revised: 8 July 2021 / Accepted: 21 July 2021 / Published: 23 July 2021.
NO Ministerio de Ciencia e Innovación (MICINN) - RETiBRAIN
NO Universidad Complutense de Madrid (España)
DS Docta Complutense
RD 16 may 2024