BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.

ABSTRACT:

Purpose

To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD).

Methods

Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian families predominantly originating from central Italy. They received a standard ophthalmologic examination, OCT scan, and electrophysiological tests (ERG and EOG). Fluorescein and ICG angiographies and fundus autofluorescence imaging were performed in selected cases. DNA samples were analyzed for sequence variants of the BEST1 gene by direct sequencing techniques.

Results

Nine missense variants and one deletion were found in the affected patients; each patient carried one mutation.

SUBMITTER: Sodi A 

PROVIDER: S-EPMC3513188 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature