Multimodal Image Analysis in Acquired Vitelliform Lesions and Adult-Onset Foveomacular Vitelliform Dystrophy

Ricardo Rocha Bastos,Elisete Brandão,Ângela M Carneiro,Carla Sofia Ferreira,Fernando Falcão-Reis

doi:10.1155/2016/6037537

Ricardo Rocha Bastos, Elisete Brandão + Show 3 more

Open Access

https://doi.org/10.1155/2016/6037537

Copy DOI

Abstract

Purpose. To characterize vitelliform lesions (VLs) in adult-onset foveomacular vitelliform dystrophy (AOFVD) and acquired vitelliform (AVL) patients using multimodal image analysis. Methods. Retrospective study of twenty-eight eyes from nineteen patients diagnosed with AVL or AOFVD. They were evaluated by color fundus photographs, fundus autofluorescence (FAF), fluorescein angiography (FA), and spectral-domain optical coherence tomography (SD-OCT). Results. Bilateral VLs were associated with AOFVD (p = 0.013). Regular and centered VLs were associated with AOFVD (p = 0.004 and p = 0.016), whereas irregular and noncentered lesions were more frequent in AVL patients. Visual acuity, greatest linear dimension (GLD), lesion height (LH), and pseudohypopyon were similar between groups. Whereas median LH and GLD in AVL group diminished significantly during follow-up (p = 0.009 and p = 0.001), AOFVD lesions tended to become larger and thicker. Conclusions. When consulting a patient presenting a VL with unknown age of onset, familial history, or previous retinal diseases, some aspects of multimodal imaging assessment may lead the ophthalmologist to a correct diagnosis.

Highlights

Vitelliform lesions (VLs) correspond to an accumulation of yellowish material in the subretinal space
When detected in younger patients, VLs usually occur in the setting of Best macular dystrophy (Best disease), an autosomal dominant disease associated with a mutation in bestrophin 1 (BEST1) [3, 4]
In this study we characterize the VL in Adult-onset foveomacular vitelliform dystrophy (AOFVD) and acquired vitelliform (AVL) patients using multimodal imaging analysis, exposing similarities and differences that could help in differential diagnosis between the two entities in clinical practice. This is a retrospective study of patients diagnosed with AVL or AOFVD, who were evaluated in the Department of Ophthalmology of Hospital Sao Joao, a tertiary health care center, at Porto, between June 2011 and December 2013

Summary

Introduction

Vitelliform lesions (VLs) correspond to an accumulation of yellowish material in the subretinal space. This phenotype is shared by different retinal diseases, with distinct genetic background and etiologies [1, 2]. These lesions may evolve over time and may be classified in the following stages:. (ii) Stage II (vitelliform): classic “egg-yolk” lesion, normal vision or mild vision loss. When detected in younger patients, VLs usually occur in the setting of Best macular dystrophy (Best disease), an autosomal dominant disease associated with a mutation in bestrophin 1 (BEST1) [3, 4]. The age of onset is typically between 30 and 50 years, and it is recognized as a pleomorphic disease, with great variability in size, shape, and distribution of the vitelliform material [1, 5]

Methods

Results

Conclusion