ArticleFrontiers in medicine2025
Case Report: A family of fluctuating cystoid macular edema caused by
Article in Frontiers in medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Cystoid macular edema (CME) is a common complication in various retinal disorders, often leading to significant central vision impairment. However, the underlying genetic causes and detailed clinical features in patients with fluctuating CME remain unclear. This retrospective, observational case series analyzed two patients from a single family with fluctuating CME, focusing on both clinical and genetic aspects. Data were collected and analyzed from September 2022 to January 2023 at a single center. Comprehensive ocular examinations, including best-corrected visual acuity tests, color fundus photography, fundus fluorescein angiography (FFA), optical coherence tomography (OCT), visual field tests, flash electroretinography, multifocal electroretinography, and electrooculography, were performed. Genetic analysis was conducted using whole exome sequencing, with confirmation through Sanger sequencing and co-segregation analysis. The results identified two compound heterozygous variants in the
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