Extended phenotypic spectrum of benign yellow dot maculopathy

TL;DR

This study describes the eye condition benign yellow dot maculopathy, showing its visual and imaging features and suggesting it may be more common than previously thought.

Contribution

The paper expands the known range of symptoms and imaging features of benign yellow dot maculopathy.

Findings

Yellow dots in the macula extend to the vascular arcades and beyond in patients with benign yellow dot maculopathy.

No morphological or functional progression was observed over an average of 3.6 years.

Yellow dots appear hypo-autofluorescent on near-infrared autofluorescence imaging.

Abstract

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

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.

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.

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.

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