Multimodal analysis of the progression of Best vitelliform macular dystrophy.

ABSTRACT:

Purpose

To investigate the multimodal morphological features in the different stages of Best vitelliform macular dystrophy (VMD) in subjects harboring mutations in the BEST1 gene, and their changes during the progression of the disease.

Methods

In this retrospective observational study performed between January 2007 and December 2012, 21 patients (42 eyes) with Best VMD from eight families with the BEST1 mutation were included. Best-corrected visual acuity (BCVA), fundus autofluorescence (FAF), and spectral domain optical coherence tomography (SDOCT) were evaluated at study entry and at last visit.

Results

The mean age of patients was 26.3±17.4 years. Seven new missense mutations in BEST1 were identified. Mean follow-up was 41.1±18.5 months. Mean BCVA was 0.34±0.34 Lo

SUBMITTER: Querques G 

PROVIDER: S-EPMC4000718 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature