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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.
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1 University Hospital, Department of Ophthalmology, Dijon, France (GRID:grid.31151.37)
2 Inserm, UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon Cedex, France (GRID:grid.7429.8) (ISNI:0000000121866389); CHU Dijon, FHU TRANSLAD, Dijon, France (GRID:grid.31151.37); CHU Dijon, Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Dijon, France (GRID:grid.31151.37)
3 Sorbonne Université, INSERM, CNRS, Institut de La Vision, Paris, France (GRID:grid.418241.a) (ISNI:0000 0000 9373 1902); CHNO Des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France (GRID:grid.7429.8) (ISNI:0000000121866389)
4 Maladies Rares, Service d’Ophtalmologie, CHU Rennes, Rennes, France (GRID:grid.411154.4) (ISNI:0000 0001 2175 0984)
5 ERN-EYE, Centre de Référence Pour Les Affections Rares en Génétique Ophtalmologique (CARGO), FSMR SENSGENE, Strasbourg, France (GRID:grid.411154.4); Université de Strasbourg, Laboratoire de Génétique Médicale, Inserm, UMR1112, Institut de Génétique Médicale D’Alsace, Strasbourg, France (GRID:grid.11843.3f) (ISNI:0000 0001 2157 9291)
6 Erasmus MC, Department of Ophthalmology, Rotterdam, The Netherlands (GRID:grid.5645.2) (ISNI:000000040459992X)
7 Sorbonne Université, INSERM, CNRS, Institut de La Vision, Paris, France (GRID:grid.418241.a) (ISNI:0000 0000 9373 1902)
8 Erasmus MC, Department of Clinical Genetics, Rotterdam, The Netherlands (GRID:grid.5645.2) (ISNI:000000040459992X)
9 ERN-EYE, Centre de Référence Pour Les Affections Rares en Génétique Ophtalmologique (CARGO), FSMR SENSGENE, Strasbourg, France (GRID:grid.5645.2); Université de Strasbourg, Laboratoire de Génétique Médicale, Inserm, UMR1112, Institut de Génétique Médicale D’Alsace, Strasbourg, France (GRID:grid.11843.3f) (ISNI:0000 0001 2157 9291)
10 Inserm, UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon Cedex, France (GRID:grid.7429.8) (ISNI:0000000121866389)
11 CNRS, INRA, Université Bourgogne Franche-Comté, Centre Des Sciences du Goût Et de L’Alimentation, AgroSup Dijon, Dijon, France (GRID:grid.507621.7)
12 University Hospital, Department of Ophthalmology, Dijon, France (GRID:grid.31151.37); CNRS, INRA, Université Bourgogne Franche-Comté, Centre Des Sciences du Goût Et de L’Alimentation, AgroSup Dijon, Dijon, France (GRID:grid.507621.7)
13 Sorbonne Université, INSERM, CNRS, Institut de La Vision, Paris, France (GRID:grid.418241.a) (ISNI:0000 0000 9373 1902); CHNO Des Quinze-Vingts, DHU Sight Restore, INSERM-DGOS CIC 1423, Paris, France (GRID:grid.7429.8) (ISNI:0000000121866389); The University of Pittsburgh School of Medicine, Department of Ophthalmology, Pittsburgh, USA (GRID:grid.21925.3d) (ISNI:0000 0004 1936 9000)
14 Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland (GRID:grid.508836.0); University of Lausanne, Department of Ophthalmology, Jules-Gonin Eye Hospital, Lausanne, Switzerland (GRID:grid.9851.5) (ISNI:0000 0001 2165 4204)
15 Inserm, UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon Cedex, France (GRID:grid.7429.8) (ISNI:0000000121866389); CHU Dijon, FHU TRANSLAD, Dijon, France (GRID:grid.31151.37); CHU Dijon, Centre de Référence Déficiences Intellectuelles de Causes Rares, Dijon, France (GRID:grid.31151.37)
16 Inserm, UMR1231, Equipe GAD, Université de Bourgogne Franche Comté, Dijon Cedex, France (GRID:grid.7429.8) (ISNI:0000000121866389); CHU Dijon, FHU TRANSLAD, Dijon, France (GRID:grid.31151.37)