ArticleEye (London, England)2025
Extended phenotypic spectrum of benign yellow dot maculopathy.
Article in Eye (London, England), 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
backgroundTo present the morphological and functional characteristics of individuals with benign yellow dot maculopathy (BYDM).
methodsAssessments included ocular examinations, best-corrected visual acuity (BCVA) testing, optical coherence tomography (OCT), blue-light fundus autofluorescence (BAF), and near-infrared autofluorescence (NIR-AF). First degree family members were also examined whenever available.
results25 individuals with BYDM (15 females, 10 males) from 19 unrelated families with a median age at first presentation of 37 years (range, 4-54 years) were included in the study. The 19 index patients were referred for assessment of early-onset drusen (n = 10), macular dystrophy (n = 6), or an unrelated ocular condition (n = 3). Clinical examination of 15 first-degree family members of 8 probands revealed vertical transmission in 6 relatives. After excluding 6 patients with other ocular pathologies, BCVA was 20/25 or better in all patients. Fundoscopically, all patients had yellow dots in the macular area, extending to the vascular arcades in 19 and beyond in 11 individuals. Hyper-autofluorescent dots on BAF topographical matched the dots seen on fundoscopy, while hypo-autofluorescent dots were noted on NIR-AF. OCT revealed no abnormalities in 14 cases, but mild ellipsoid zone irregularities were observed in 11. No morphological or functional progression was noted in 15 individuals over an average follow-up period of 3.6 years.
conclusionBYDM may present with a mild phenotype with yellow dots extending to the vascular arcades and beyond, suggesting it could be more common than previously reported. Recognizing this phenotype may reduce unnecessary investigations and follow-ups. Yellow dots show hypo-autofluorescence on NIR-AF and there is no morphological or functional progression.
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