Title

VITELLIFORM MACULAR DYSTROPHY: ATROFIC FASE - CASE REPORT

Introduction

Vitelliform macular dystrophy(VDM) is aninherited macular dystrophy in which lipofuscin accumulates in the central macula causing progressive central vision loss. It characterized by bilateral yellow macular lesions. While Best’s presents during childhood, adult vitelliform typically presents later in life. The material may persist, absorb, or break up and disperse at a late stage, developing a variety of subretinal and sub-RPE fibrosis, RPE atrophy, geographic atrophy, choroidal neovascularization. OCT reveals that the vitelliform material appears as a dome-shaped, hyperreflective and homogenous lesion, located below the hyperreflective photoreceptor layer. Fluorescein angiography (FA) shows central hypofluorescence surrounded by a small irregular hyperfluorescentring.

Methods

Medical record review.

Results

A 57-years- old-woman referenced due to changes in the fundoscopy of both eyes, low progressive vision for years. Best visual acuity is 20/200 in both eyes. In fundoscopy, presence of yellow areas of viteliform content margining area of macular atrophy in both eyes. Complementary exams were requested. OCT with the presence of hyper reflective areas as sub RPE suggestive of vitelliform accumulation, subretinal hyporreflective area suggesting atrophy after resorption vitelliform content and discontinuity of the photoreceptor layer. Autofluor with hyperautofluor in viteliform lesions associated with hipoautofluor in central atrophy area. FA defecthy perfluor by defect in central window and hyperfluor by staining in paramacular viteliform injuries. As a conduct, the patient's genes were dosed for diagnostic confirmation and semi-annual follow-up.

Discussion

VMD is a relatively common retinal disorder with several differential diagnoses. The need for genetic study assists in the diagnostic confirmation, however, regard less of confirmation, there is no therapy and clinical follow-up and guidance as to its prognosis and natural evolution of the disease are fundamental.

Keywords

vitelliform macular dystrophy ; macular atrophy ; Best disease ; complementary exams ;

Area

CLINICAL CASE

Authors

Walther de Oliveira Campos Neto, Paulo Henrique Horizonte, Rafael Garcia, Luciano Fuzzato Filho, Amanda Venturini Arantes, Carolina Maria Barbosa Lemos, Isabela Feltrin Romano, André Marcelo Vieira Gomes