Best Vitelliform Macular Dystrophy Natural History Study Report 2

Abstract

Purpose

To analyze the retinal imaging findings and natural history of Best vitelliform macular dystrophy (BVMD).

Design

Single-center retrospective, consecutive, observational study.

Participants

Patients with a clinical diagnosis of BVMD, from pedigrees with a likely disease-causing monoallelic variant in BEST1.

Methods

Data were extracted from electronic and physical case notes. Retinal imaging with OCT and fundus autofluorescence (FAF) was analyzed cross-sectionally and longitudinally.

Main Outcome Measures

Qualitative and quantitative OCT and FAF analysis.

Results

Two hundred twenty-two patients (127 men) from 141 families were included. Mean central retinal thickness on OCT at baseline was 337.2 μm for the right eye and 341.1 μm for the left eye, with a mean annual thickness loss of 5.7 and 5.2 μm, respectively. The presence of the OCT features: previtelliform lesion, solid vitelliform lesion, vitelliform lesion with subretinal fluid, and focal choroidal excavation were associated with a better mean visual acuity (VA), whereas the presence of intraretinal fluid and atrophy/fibrosis were correlated with a worse mean VA. Fundus autofluorescence showed an area of hyperautofluorescence at the posterior pole in 138 eyes (34.7%), a circumscribed area of hyperautofluorescence superior or superotemporal of the optic nerve head in 53 eyes (13.3%), fibrotic changes in 48 eyes (12.1%), and atrophy in 41 eyes (10.3%).

Conclusions

Best vitelliform macular dystrophy shows a wide spectrum of phenotypes on OCT and FAF imaging. The slow and variable disease course may pose a challenge in identification of early end points for therapeutic trials aimed at altering kinetics of degeneration.

Financial Disclosure(s)

Proprietary or commercial disclosures may be found in the Footnotes and Disclosures at the end of this article.