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Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia

Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical coherence tomography (OCT). A total of 48 patien...

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Autores principales: Bogdanova-Mihaylova, Petya, Plapp, Helena Maria, Chen, Hongying, Early, Anne, Cassidy, Lorraine, Walsh, Richard A., Murphy, Sinéad M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706975/
https://www.ncbi.nlm.nih.gov/pubmed/34941648
http://dx.doi.org/10.3390/tomography7040076
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author Bogdanova-Mihaylova, Petya
Plapp, Helena Maria
Chen, Hongying
Early, Anne
Cassidy, Lorraine
Walsh, Richard A.
Murphy, Sinéad M.
author_facet Bogdanova-Mihaylova, Petya
Plapp, Helena Maria
Chen, Hongying
Early, Anne
Cassidy, Lorraine
Walsh, Richard A.
Murphy, Sinéad M.
author_sort Bogdanova-Mihaylova, Petya
collection PubMed
description Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical coherence tomography (OCT). A total of 48 patients from 42 unrelated families were recruited. Mean age at onset was 13.8 years (range 4–40), mean disease duration 19.5 years (range 5–43), mean disease severity as quantified with the Scale for the Assessment and Rating of Ataxia 22/40 (range 4.5–38). All patients displayed variable ataxia and two-thirds had ocular abnormalities. Statistically significant thinning of average retinal nerve fibre layer (RNFL) and thinning in all but the temporal quadrant compared to controls was demonstrated on OCT. Significant RNFL and macular thinning was documented over time in 20 individuals. Disease severity and visual acuity were correlated with RNFL and macular thickness, but no association was found with disease duration. Our results highlight that FDRA is associated with subclinical optic neuropathy. This is the largest longitudinal study of OCT findings in FRDA to date, demonstrating progressive RNFL thickness decline, suggesting that RNFL thickness as measured by OCT has the potential to become a quantifiable biomarker for the evaluation of disease progression in FRDA.
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spelling pubmed-87069752021-12-25 Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia Bogdanova-Mihaylova, Petya Plapp, Helena Maria Chen, Hongying Early, Anne Cassidy, Lorraine Walsh, Richard A. Murphy, Sinéad M. Tomography Article Ocular abnormalities occur frequently in Friedreich’s ataxia (FRDA), although visual symptoms are not always reported. We evaluated a cohort of patients with FRDA to characterise the clinical phenotype and optic nerve findings as detected with optical coherence tomography (OCT). A total of 48 patients from 42 unrelated families were recruited. Mean age at onset was 13.8 years (range 4–40), mean disease duration 19.5 years (range 5–43), mean disease severity as quantified with the Scale for the Assessment and Rating of Ataxia 22/40 (range 4.5–38). All patients displayed variable ataxia and two-thirds had ocular abnormalities. Statistically significant thinning of average retinal nerve fibre layer (RNFL) and thinning in all but the temporal quadrant compared to controls was demonstrated on OCT. Significant RNFL and macular thinning was documented over time in 20 individuals. Disease severity and visual acuity were correlated with RNFL and macular thickness, but no association was found with disease duration. Our results highlight that FDRA is associated with subclinical optic neuropathy. This is the largest longitudinal study of OCT findings in FRDA to date, demonstrating progressive RNFL thickness decline, suggesting that RNFL thickness as measured by OCT has the potential to become a quantifiable biomarker for the evaluation of disease progression in FRDA. MDPI 2021-12-08 /pmc/articles/PMC8706975/ /pubmed/34941648 http://dx.doi.org/10.3390/tomography7040076 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Bogdanova-Mihaylova, Petya
Plapp, Helena Maria
Chen, Hongying
Early, Anne
Cassidy, Lorraine
Walsh, Richard A.
Murphy, Sinéad M.
Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
title Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
title_full Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
title_fullStr Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
title_full_unstemmed Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
title_short Longitudinal Assessment Using Optical Coherence Tomography in Patients with Friedreich’s Ataxia
title_sort longitudinal assessment using optical coherence tomography in patients with friedreich’s ataxia
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8706975/
https://www.ncbi.nlm.nih.gov/pubmed/34941648
http://dx.doi.org/10.3390/tomography7040076
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