Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography

Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography...

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Autores: Camós Carreras, Anna, Figueras Roca, Marc, Albà Arbalat, Salut, Alcubierre, Rafel, Saint Gerons, Marta, Sánchez Dalmau, Bernardo
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2024
País:España
Institución:Universidad de Barcelona
Repositorio:Dipòsit Digital de la UB
OAI Identifier:oai:diposit.ub.edu:2445/219397
Acceso en línea:https://hdl.handle.net/2445/219397
Access Level:acceso abierto
Palabra clave:Neurooftalmologia
Tomografia de coherència òptica
Oftalmologia
Neuroophthalmology
Optical coherence tomography
Ophthalmology
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spelling Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence TomographyCamós Carreras, AnnaFigueras Roca, MarcAlbà Arbalat, SalutAlcubierre, RafelSaint Gerons, MartaSánchez Dalmau, BernardoNeurooftalmologiaTomografia de coherència òpticaOftalmologiaNeuroophthalmologyOptical coherence tomographyOphthalmologyBackground: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored potential clinical biomarkers. Methods: A cross-sectional, case-control observational study included 27 patients with ADOA and 27 age- and sex-matched healthy controls. Clinical examinations, OCT imaging, and OCT angiography (OCTA) were performed. Statistical analyses were conducted to establish correlations between clinical and OCT parameters. Results: Patients with ADOA exhibited gradual bilateral vision loss, central scotomas, and optic disc pallor. Structural OCT analysis revealed significant reductions in central macular thickness, macular volume, ganglion cell complex (GCC), and peripapillary retinal nerve fiber layer compared with controls. Correlation analysis demonstrated associations between worsening clinical parameters (best corrected visual acuity, Sloan Letters Low Contrast Chart 25%, Pseudoisochromatic Test) and increased OCT damage (structural and OCTA). GCC emerged, at least at exploratory terms, as the most important clinical biomarker in patients with ADOA given its multiple positive functional associations, while OCTA parameters correlated with visual field defects. Conclusions: Our study revealed significant correlations between clinical and structural parameters in patients with ADOA, highlighting the importance of OCT in assessing disease severity. GCC measurement shows promise as a clinical biomarker, aiding in disease monitoring. OCTA parameters offer potential early biomarkers for vascular changes. These findings contribute to understanding ADOA pathophysiology and may improve patient diagnosis and management. Further research is warranted to validate these findings and explore potential therapeutic interventions.Lippincott, Williams & Wilkins. Wolters Kluwer Health2024info:eu-repo/semantics/articleinfo:eu-repo/semantics/acceptedVersionapplication/pdfhttps://hdl.handle.net/2445/219397Articles publicats en revistes (Medicina)reponame:Dipòsit Digital de la UBinstname:Universidad de BarcelonaInglésVersió postprint del document publicat a: https://doi.org/10.1097/WNO.0000000000002294Journal of Neuro-Ophthalmology, 2024https://doi.org/10.1097/WNO.0000000000002294(c) North American Neuro-Ophthalmology Society, 2024info:eu-repo/semantics/openAccessoai:diposit.ub.edu:2445/2193972026-05-27T06:46:51Z
dc.title.none.fl_str_mv Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
title Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
spellingShingle Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
Camós Carreras, Anna
Neurooftalmologia
Tomografia de coherència òptica
Oftalmologia
Neuroophthalmology
Optical coherence tomography
Ophthalmology
title_short Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
title_full Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
title_fullStr Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
title_full_unstemmed Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
title_sort Clinical and Structural Parameters in Autosomal Dominant Optic Atrophy Patients: A Cross-Sectional Study Using Optical Coherence Tomography
dc.creator.none.fl_str_mv Camós Carreras, Anna
Figueras Roca, Marc
Albà Arbalat, Salut
Alcubierre, Rafel
Saint Gerons, Marta
Sánchez Dalmau, Bernardo
author Camós Carreras, Anna
author_facet Camós Carreras, Anna
Figueras Roca, Marc
Albà Arbalat, Salut
Alcubierre, Rafel
Saint Gerons, Marta
Sánchez Dalmau, Bernardo
author_role author
author2 Figueras Roca, Marc
Albà Arbalat, Salut
Alcubierre, Rafel
Saint Gerons, Marta
Sánchez Dalmau, Bernardo
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Neurooftalmologia
Tomografia de coherència òptica
Oftalmologia
Neuroophthalmology
Optical coherence tomography
Ophthalmology
topic Neurooftalmologia
Tomografia de coherència òptica
Oftalmologia
Neuroophthalmology
Optical coherence tomography
Ophthalmology
description Background: Autosomal Dominant Optic Atrophy (ADOA) is a hereditary optic neuropathy characterized by retinal ganglion cell degeneration and optic nerve fiber loss. This study examined the correlation between clinical and structural parameters in patients with ADOA using optical coherence tomography (OCT) and explored potential clinical biomarkers. Methods: A cross-sectional, case-control observational study included 27 patients with ADOA and 27 age- and sex-matched healthy controls. Clinical examinations, OCT imaging, and OCT angiography (OCTA) were performed. Statistical analyses were conducted to establish correlations between clinical and OCT parameters. Results: Patients with ADOA exhibited gradual bilateral vision loss, central scotomas, and optic disc pallor. Structural OCT analysis revealed significant reductions in central macular thickness, macular volume, ganglion cell complex (GCC), and peripapillary retinal nerve fiber layer compared with controls. Correlation analysis demonstrated associations between worsening clinical parameters (best corrected visual acuity, Sloan Letters Low Contrast Chart 25%, Pseudoisochromatic Test) and increased OCT damage (structural and OCTA). GCC emerged, at least at exploratory terms, as the most important clinical biomarker in patients with ADOA given its multiple positive functional associations, while OCTA parameters correlated with visual field defects. Conclusions: Our study revealed significant correlations between clinical and structural parameters in patients with ADOA, highlighting the importance of OCT in assessing disease severity. GCC measurement shows promise as a clinical biomarker, aiding in disease monitoring. OCTA parameters offer potential early biomarkers for vascular changes. These findings contribute to understanding ADOA pathophysiology and may improve patient diagnosis and management. Further research is warranted to validate these findings and explore potential therapeutic interventions.
publishDate 2024
dc.date.none.fl_str_mv 2024
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/acceptedVersion
format article
status_str acceptedVersion
dc.identifier.none.fl_str_mv https://hdl.handle.net/2445/219397
url https://hdl.handle.net/2445/219397
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
dc.relation.none.fl_str_mv Versió postprint del document publicat a: https://doi.org/10.1097/WNO.0000000000002294
Journal of Neuro-Ophthalmology, 2024
https://doi.org/10.1097/WNO.0000000000002294
dc.rights.none.fl_str_mv (c) North American Neuro-Ophthalmology Society, 2024
info:eu-repo/semantics/openAccess
rights_invalid_str_mv (c) North American Neuro-Ophthalmology Society, 2024
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Lippincott, Williams & Wilkins. Wolters Kluwer Health
publisher.none.fl_str_mv Lippincott, Williams & Wilkins. Wolters Kluwer Health
dc.source.none.fl_str_mv Articles publicats en revistes (Medicina)
reponame:Dipòsit Digital de la UB
instname:Universidad de Barcelona
instname_str Universidad de Barcelona
reponame_str Dipòsit Digital de la UB
collection Dipòsit Digital de la UB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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score 15,81155

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