Extended phenotypic spectrum of benign yellow dot maculopathy.

Background: To present the morphological and functional characteristics of individuals with benign yellow dot maculopathy (BYDM).

Methods: Assessments 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.

Results: 25 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.

Conclusion: BYDM 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.