Ocular Involvement in Friedreich Ataxia Patients and its Relationship with Neurological Disability, a Follow-up Study



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Rojas Lozano, Pilar and Ramírez Sebastián, Ana Isabel and Hoz Montañana, María Rosa de and Cadena Santoyo, Manuel and Ferreras Amez, Antonio and Monsalve Córdova, Blanca and García Martín, Elena Salobrar and Muñóz Blanco, José L and Urcelay Segura, José Luis and Salazar Corral, Juan José and Ramirez Sebastian, Jose Manuel (2020) Ocular Involvement in Friedreich Ataxia Patients and its Relationship with Neurological Disability, a Follow-up Study. Diagnostics, 10 (75). ISSN 2075-4418

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Official URL: https://doi.org/10.3390/diagnostics10020075


Background: This study compared functional and structural visual changes in Friedreich ataxia (FRDA) patients with healthy controls (HC) and correlated these changes with neurological disability. Methods: Eight FRDA Spanish patients and eight HC were selected from 2014 to 2018. Best corrected visual acuity (BCVA), visual field (VF), optic coherence tomography (OCT), and neurological disability measured by “scale for the assessment and rating of ataxia” (SARA) were taken in a basal exploration and repeated after 6 months. A linear mixed analysis and Bonferroni p-value correction were performed. Results: FRDA baseline and follow-up patients showed statistically significant decreases in BCVA, VF, and OCT parameters compared with the HC. Some of the VF measurements and most of the OCT parameters had an inverse mild-to-strong correlation with SARA. Moreover, the analysis of the ROC curve demonstrated that the peripapillary retinal nerve fiber layer (pRNFL) average thickness was the best parameter to discriminate between FRDA patients and HC. Conclusions: The follow-up study showed a progression in OCT parameters. Findings showed a sequential effect in pRNFL, ganglion cell complex (GCC), and macula. The VF and the OCT could be useful biomarkers in FRDA, both for their correlation with neurological disease as well as for their ability to evaluate disease progression.

Item Type:Article
Additional Information:

(This article belongs to the Section Pathology and Molecular Diagnostics)
Received: 24 December 2019 / Revised: 28 January 2020 / Accepted: 29 January 2020 / Published: 29 January 2020

Uncontrolled Keywords:OCT; Friedreich ataxia; FRDA; SARA; neurodegeneration; neurological disability; Visual field
Subjects:Medical sciences > Medicine > Neurosciences
Medical sciences > Medicine > Ophtalmology
Medical sciences > Optics > Eyes anatomy
ID Code:58891
Deposited On:28 Feb 2020 13:11
Last Modified:28 Feb 2020 13:11

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