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Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia

PURPOSE: This prospective study investigates longitudinal changes in retinal structure in patients with achromatopsia (ACHM) using optical coherence tomography (OCT). METHODS: Seventeen patients (five adults, 12 children) with genetically confirmed CNGA3- or CNGB3-associated ACHM underwent ocular ex...

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Autores principales: Triantafylla, Magdalini, Papageorgiou, Eleni, Thomas, Mervyn G., McLean, Rebecca, Kohl, Susanne, Sheth, Viral, Tu, Zhanhan, Proudlock, Frank A., Gottlob, Irene
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Association for Research in Vision and Ophthalmology 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363676/
https://www.ncbi.nlm.nih.gov/pubmed/35930270
http://dx.doi.org/10.1167/iovs.63.9.6
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author Triantafylla, Magdalini
Papageorgiou, Eleni
Thomas, Mervyn G.
McLean, Rebecca
Kohl, Susanne
Sheth, Viral
Tu, Zhanhan
Proudlock, Frank A.
Gottlob, Irene
author_facet Triantafylla, Magdalini
Papageorgiou, Eleni
Thomas, Mervyn G.
McLean, Rebecca
Kohl, Susanne
Sheth, Viral
Tu, Zhanhan
Proudlock, Frank A.
Gottlob, Irene
author_sort Triantafylla, Magdalini
collection PubMed
description PURPOSE: This prospective study investigates longitudinal changes in retinal structure in patients with achromatopsia (ACHM) using optical coherence tomography (OCT). METHODS: Seventeen patients (five adults, 12 children) with genetically confirmed CNGA3- or CNGB3-associated ACHM underwent ocular examination and OCT over a follow-up period of between 2 and 9.33 years (mean = 5.7 years). Foveal tomograms were qualitatively graded and were segmented for quantitative analysis: central macular thickness (CMt), outer nuclear layer thickness (ONLt), and size of the foveal hyporeflective zone (vertical HRZ thickness: HRZt and horizontal HRZ width: HRZw) were measured. Data were analyzed using linear mixed regression models. Both age and visit were included into the models, to explore the possibility that the rate of disease progression depends on patient age. RESULTS: Fifteen of 17 patients (88%) showed longitudinal changes in retinal structure over the follow-up period. The most common patterns of progression was development of ellipsoid zone (EZ) disruption and HRZ. There was a significant increase in HRZt (P = 0.01) and HRZw (P = 0.001) between visits and no significant change in CMt and ONLt. Retinal parameters showed no difference in changes by genetic mutation (CNGA3 (n = 11), CNGB3 (n = 6)). CONCLUSIONS: This study demonstrates clear longitudinal changes in foveal structure mainly in children, but also in adults with ACHM, over a long follow-up period. The longitudinal foveal changes suggest that treatment at an earlier age should be favored.
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spelling pubmed-93636762022-08-11 Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia Triantafylla, Magdalini Papageorgiou, Eleni Thomas, Mervyn G. McLean, Rebecca Kohl, Susanne Sheth, Viral Tu, Zhanhan Proudlock, Frank A. Gottlob, Irene Invest Ophthalmol Vis Sci Retina PURPOSE: This prospective study investigates longitudinal changes in retinal structure in patients with achromatopsia (ACHM) using optical coherence tomography (OCT). METHODS: Seventeen patients (five adults, 12 children) with genetically confirmed CNGA3- or CNGB3-associated ACHM underwent ocular examination and OCT over a follow-up period of between 2 and 9.33 years (mean = 5.7 years). Foveal tomograms were qualitatively graded and were segmented for quantitative analysis: central macular thickness (CMt), outer nuclear layer thickness (ONLt), and size of the foveal hyporeflective zone (vertical HRZ thickness: HRZt and horizontal HRZ width: HRZw) were measured. Data were analyzed using linear mixed regression models. Both age and visit were included into the models, to explore the possibility that the rate of disease progression depends on patient age. RESULTS: Fifteen of 17 patients (88%) showed longitudinal changes in retinal structure over the follow-up period. The most common patterns of progression was development of ellipsoid zone (EZ) disruption and HRZ. There was a significant increase in HRZt (P = 0.01) and HRZw (P = 0.001) between visits and no significant change in CMt and ONLt. Retinal parameters showed no difference in changes by genetic mutation (CNGA3 (n = 11), CNGB3 (n = 6)). CONCLUSIONS: This study demonstrates clear longitudinal changes in foveal structure mainly in children, but also in adults with ACHM, over a long follow-up period. The longitudinal foveal changes suggest that treatment at an earlier age should be favored. The Association for Research in Vision and Ophthalmology 2022-08-05 /pmc/articles/PMC9363676/ /pubmed/35930270 http://dx.doi.org/10.1167/iovs.63.9.6 Text en Copyright 2022 The Authors https://creativecommons.org/licenses/by/4.0/This work is licensed under a Creative Commons Attribution 4.0 International License.
spellingShingle Retina
Triantafylla, Magdalini
Papageorgiou, Eleni
Thomas, Mervyn G.
McLean, Rebecca
Kohl, Susanne
Sheth, Viral
Tu, Zhanhan
Proudlock, Frank A.
Gottlob, Irene
Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia
title Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia
title_full Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia
title_fullStr Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia
title_full_unstemmed Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia
title_short Longitudinal Evaluation of Changes in Retinal Architecture Using Optical Coherence Tomography in Achromatopsia
title_sort longitudinal evaluation of changes in retinal architecture using optical coherence tomography in achromatopsia
topic Retina
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363676/
https://www.ncbi.nlm.nih.gov/pubmed/35930270
http://dx.doi.org/10.1167/iovs.63.9.6
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