Title

UNILATERAL BEST MACULAR DYSTROPHY: A CASE REPORT

Introduction

Best disease (Vitelliform Macular Dystrophy - VMD) is an early onset macular dystrophy typically characterized by bilateral accumulation of subretinal deposit resulting from heterozygous mutations in the BEST1 gene (OMIM 153700)1. It has two clinical variants: Best’s (VMD2) and adult onset vitelliform macular dystrophy(AOVMD). Both are characterised by classic “egg-yolk” lesions seen in the macula, and affected eyes may demonstrate various clinical stages, ranging from the previtelliform stage to choroidal neovascularization2,3. Visual function generally remains good despite opthalmoscopically visible lesion until the disease process progresses to cause structural alterations in the outer retinal layers3.

Methods

Medical records review.

Results

We present a case of an 80-year-old paciente who complains of low visual acuity in both eyes (20/60) for the past 3 months. The paciente had cataract surgery in OD 12 years ago and OE 10 years ago. On funduscopy examination has in the right eye, an optic disc with 0.8X0.8 excavation, decreased macula brightness, exudative upper nasal injury, EPR rarefaction, vascular thinning, applied retina. In the left eye, it presents an optic disc with a 0.8X0.7 excavation, a well-defined yellow circular lesion in the macular area, applied retinal and vascular thinning.

Discussion

This case presents typical and consistent findings from Best except for the unilateral presentation. The oct shows an accumulation of subretinal hyperreflective material. The oculogram shows a reduction in the values ​​bilaterally. According to the literature, normal appearance in the eye without a fundus finding may precede a clinical manifestation of vitelliform lesions.

Keywords

Best disease, Vitelliform Macular Dystrophy, Unilateral Best disease,

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Area

CLINICAL CASE

Authors

Amanda Aranha Williams Castro, Paulo Henrique Horizonte, Renato Silva Filho, Guilherme Daher Reis, Giovana Araujo Machado, Isabela Caires Gasperazzos, Andre Marcelo V Gomes, Daniel Martin

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