LAUSR

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.