Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

Abstract Cohen syndrome (CS) is a rare syndromic form of rod-cone dystrophy. Recent case reports have suggested that cystoid maculopathy (CM) could affect CS patients with an early onset and high prevalence. Our study aims at improving our understanding and management of CM in CS patients through a...

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Autores principales: Pierre-Henry Gabrielle, Laurence Faivre, Isabelle Audo, Xavier Zanlonghi, Hélène Dollfus, Alberta A. H. J. Thiadens, Christina Zeitz, Grazia M. S. Mancini, Yaumara Perdomo, Saddek Mohand-Saïd, Eléonore Lizé, Vincent Lhussiez, Emeline F. Nandrot, Niyazi Acar, Catherine Creuzot-Garcher, José-Alain Sahel, Muhammad Ansar, Christel Thauvin-Robinet, Laurence Duplomb, Romain Da Costa
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Publicado: Nature Portfolio 2021
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Acceso en línea:https://doaj.org/article/4fba79ce68f2425891072fbe06c9b9c3
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spelling oai:doaj.org-article:4fba79ce68f2425891072fbe06c9b9c32021-12-02T15:07:55ZCystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy10.1038/s41598-021-95743-82045-2322https://doaj.org/article/4fba79ce68f2425891072fbe06c9b9c32021-08-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-95743-8https://doaj.org/toc/2045-2322Abstract Cohen syndrome (CS) is a rare syndromic form of rod-cone dystrophy. Recent case reports have suggested that cystoid maculopathy (CM) could affect CS patients with an early onset and high prevalence. Our study aims at improving our understanding and management of CM in CS patients through a retrospective case series of ten CS patients with identified pathogenic variants in VPS13B. Longitudinal optical coherence tomography (OCT) imaging was performed and treatment with carbonic anhydrase inhibitors (CAI) was provided to reduce the volume of cystoid spaces. CM affected eight out of ten patients in our cohort. The youngest patient showed a strong progression of macular cysts from the age of 4.5 to 5 years despite oral CAI medication. Other teenage and young adult patients showed stable macular cysts with and without treatment. One patient showed a moderate decrease of cystoid spaces in the absence of treatment at 22 years of age. Through a correlative analysis we found that the volume of cystoid spaces was positively correlated to the thickness of peripheral and macular photoreceptor-related layers. This study suggests that CAI treatments may not suffice to improve CM in CS patients, and that CM may resolve spontaneously during adulthood as photoreceptor dystrophy progresses.Pierre-Henry GabrielleLaurence FaivreIsabelle AudoXavier ZanlonghiHélène DollfusAlberta A. H. J. ThiadensChristina ZeitzGrazia M. S. ManciniYaumara PerdomoSaddek Mohand-SaïdEléonore LizéVincent LhussiezEmeline F. NandrotNiyazi AcarCatherine Creuzot-GarcherJosé-Alain SahelMuhammad AnsarChristel Thauvin-RobinetLaurence DuplombRomain Da CostaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-12 (2021)
institution DOAJ
collection DOAJ
language EN
topic Medicine
R
Science
Q
spellingShingle Medicine
R
Science
Q
Pierre-Henry Gabrielle
Laurence Faivre
Isabelle Audo
Xavier Zanlonghi
Hélène Dollfus
Alberta A. H. J. Thiadens
Christina Zeitz
Grazia M. S. Mancini
Yaumara Perdomo
Saddek Mohand-Saïd
Eléonore Lizé
Vincent Lhussiez
Emeline F. Nandrot
Niyazi Acar
Catherine Creuzot-Garcher
José-Alain Sahel
Muhammad Ansar
Christel Thauvin-Robinet
Laurence Duplomb
Romain Da Costa
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
description Abstract Cohen syndrome (CS) is a rare syndromic form of rod-cone dystrophy. Recent case reports have suggested that cystoid maculopathy (CM) could affect CS patients with an early onset and high prevalence. Our study aims at improving our understanding and management of CM in CS patients through a retrospective case series of ten CS patients with identified pathogenic variants in VPS13B. Longitudinal optical coherence tomography (OCT) imaging was performed and treatment with carbonic anhydrase inhibitors (CAI) was provided to reduce the volume of cystoid spaces. CM affected eight out of ten patients in our cohort. The youngest patient showed a strong progression of macular cysts from the age of 4.5 to 5 years despite oral CAI medication. Other teenage and young adult patients showed stable macular cysts with and without treatment. One patient showed a moderate decrease of cystoid spaces in the absence of treatment at 22 years of age. Through a correlative analysis we found that the volume of cystoid spaces was positively correlated to the thickness of peripheral and macular photoreceptor-related layers. This study suggests that CAI treatments may not suffice to improve CM in CS patients, and that CM may resolve spontaneously during adulthood as photoreceptor dystrophy progresses.
format article
author Pierre-Henry Gabrielle
Laurence Faivre
Isabelle Audo
Xavier Zanlonghi
Hélène Dollfus
Alberta A. H. J. Thiadens
Christina Zeitz
Grazia M. S. Mancini
Yaumara Perdomo
Saddek Mohand-Saïd
Eléonore Lizé
Vincent Lhussiez
Emeline F. Nandrot
Niyazi Acar
Catherine Creuzot-Garcher
José-Alain Sahel
Muhammad Ansar
Christel Thauvin-Robinet
Laurence Duplomb
Romain Da Costa
author_facet Pierre-Henry Gabrielle
Laurence Faivre
Isabelle Audo
Xavier Zanlonghi
Hélène Dollfus
Alberta A. H. J. Thiadens
Christina Zeitz
Grazia M. S. Mancini
Yaumara Perdomo
Saddek Mohand-Saïd
Eléonore Lizé
Vincent Lhussiez
Emeline F. Nandrot
Niyazi Acar
Catherine Creuzot-Garcher
José-Alain Sahel
Muhammad Ansar
Christel Thauvin-Robinet
Laurence Duplomb
Romain Da Costa
author_sort Pierre-Henry Gabrielle
title Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
title_short Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
title_full Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
title_fullStr Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
title_full_unstemmed Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy
title_sort cystoid maculopathy is a frequent feature of cohen syndrome-associated retinopathy
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/4fba79ce68f2425891072fbe06c9b9c3
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