Natural course of the vitelliform stage in best vitelliform macular dystrophy: a five-year follow-up study

Abstract

Purpose: The vitelliform stage is the typical phenotypic manifestation of Best vitelliform macular dystrophy (BVMD). As yet, no study has focused specifically on the clinical changes occurring in the vitelliform stage over the follow-up.

Methods: The survey takes the form of a prospective observational study with a 5-year follow-up. Twenty-one eyes of 11 patients in the vitelliform stage were examined annually. The primary outcome was the identification of the changes in the vitelliform lesion over a 5-year follow-up. Secondary outcomes included changes in structural optical coherence tomography (OCT) parameters and the correlation with the BCVA variation over the follow-up.

Results: Spectral domain OCT at baseline showed one subform characterized by solid vitelliform deposition, in 81% of eyes, and another subform characterized by a combination of solid deposition and subretinal fluid, in 19% of eyes. Overall, 62% of eyes showed an increase in the area of vitelliform deposition. Once the maximal area was reached, a progressive flattening of the vitelliform deposition took place, with subsequent flattening of the vitelliform lesion and formation of subretinal fluid. Hyperreflective foci (HF) increased in number as long as the vitelliform area continued to expand, with no variation in HF when the vitelliform lesion flattened or the subretinal fluid formed.

Conclusions: The vitelliform stage reveals more subforms with clinical variations over the follow-up. Our data suggest that the substage before the flattening of the lesion, thus before the so-called subretinal fluid accumulates and when the visual acuity is still high, might offer the best opportunity for an optimal therapeutic approach.

Keywords: 5-year follow-up; Best vitelliform macular dystrophy; Hyperreflective foci; OCT; Vitelliform stage.