Multimodal imaging of benign yellow dot maculopathy

Vittoria Murro, Dario Pasquale Mucciolo*, Dario Giorgio, Andrea Sodi, Ilaria Passerini, Bianca Pacini, Lucia Finocchio, Gianni Virgili, Stanislao Rizzo

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

Purpose: To describe the clinical features of 2 unrelated families affected with Benign Yellow Dot Maculopathy and to analyze anatomical and functional findings of this peculiar phenotype Methods: Case series Results: We retrospectively described 5 patients (3 males, 2 females) affected with Benign Yellow Dot Maculopathy. The mean age at referral was 50,8 years (range 34–69 yrs.). All patients were characterized by a good visual acuity (20/20 in both eyes) and by symmetric multiple yellow dots at the posterior pole in both eyes. In 3 patients (P1, P3, P4) the yellow dots were mainly located at the nasal side of the macula. The yellow dots appeared hyper-autofluorescent at the fundus autofluorescence (FAF) imaging. OCT examination revealed in 3 patients (P1, P3, P4) mild irregularities at the level of the retinal pigment epithelium (RPE) and at the interdigitation (IZ) and ellipsoid zone (EZ). OCT angiography (OCT-A), performed in 3 patients (P1, P4,P5), was normal. Adaptive Optics imaging (AO) showed a peculiar pattern of the cone mosaic: the yellow dots were detectable as hyper-reflective lesions at the macular region. In 2 patients (P1, P4) we reported a follow-up of 2 and 18 years respectively. Genetic examination performed on patient P1 did not reveal pathogenic variants for retinal dystrophies. Conclusions: Our work confirmed the benign nature of this peculiar macular phenotype showing a normal macular function and a stable clinical picture during a long-term follow-up. Multimodal imaging allows a detailed detection and monitoring of Benign Yellow Dot Maculopathy.

Original languageEnglish
Pages (from-to)135-140
Number of pages6
JournalOphthalmic genetics
Volume40
Issue number2
DOIs
Publication statusPublished - 03 Apr 2019
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2019, © 2019 Taylor & Francis Group, LLC.

Copyright:
Copyright 2019 Elsevier B.V., All rights reserved.

Keywords

  • adaptive optics
  • dots
  • macular dystrophy
  • maculopathy
  • multimodal imaging
  • OCT
  • retinal dystrophy
  • Yellow dot maculopathy

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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