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.

Multimodal imaging of benign yellow dot maculopathy / Murro, Vittoria; Mucciolo, Dario Pasquale; Giorgio, Dario; Sodi, Andrea; Passerini, Ilaria; Pacini, Bianca; Finocchio, Lucia; Virgili, Gianni; Rizzo, Stanislao. - In: OPHTHALMIC GENETICS. - ISSN 1381-6810. - ELETTRONICO. - (2019), pp. 1-6. [10.1080/13816810.2019.1589529]

Multimodal imaging of benign yellow dot maculopathy

Murro, Vittoria;Mucciolo, Dario Pasquale
;
GIORGIO, DARIO;Sodi, Andrea;Passerini, Ilaria;PACINI, BIANCA;Finocchio, Lucia;Virgili, Gianni;Rizzo, Stanislao
2019

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.
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Murro, Vittoria; Mucciolo, Dario Pasquale; Giorgio, Dario; Sodi, Andrea; Passerini, Ilaria; Pacini, Bianca; Finocchio, Lucia; Virgili, Gianni; Rizzo, Stanislao
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2158/1152340
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