ArticleScientific reports2021
Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy.
Article in Scientific reports, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 12 citations in OpenAlex.
- Further evidence for a wide phenotypic and mutational spectrum of Cohen syndrome: case report and literature review.Journal of applied genetics · 2025Article
- Article
- VPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1.The Journal of cell biology · 2024Article
- VPS13B is localized at the cis-trans Golgi complex interface and is a functional partner of FAM177A1.bioRxiv : the preprint server for biology · 2023Article
- Cystoid macular oedema without leakage in fluorescein angiography: a literature review.Eye (London, England) · 2023Review
- Value of Combining Optical Coherence Tomography with Fundus Photography in Screening Retinopathy in Patients with High Myopia.Journal of healthcare engineering · 2022Article
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Authors and funding
20 authors at 14 institutions in 4 countries.
Funding
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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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