Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT.

ABSTRACT:

Objectives

To investigate retinal microstructure of patients affected with malattia leventinese (MLVT) and mutation in the EFEMP1 gene using high-resolution optical coherence tomography (OCT).

Methods

Patients diagnosed with MLVT received a comprehensive eye exam, full-field and multifocal electroretinogram testing and imaging with a high-resolution Fourier domain OCT (Fd-OCT, UC Davis Medical Center, Davis, USA; axial resolution: 4.5 microm, acquisition speed: 9 frames s(-1), 1000 A scans s(-1)) combined with a flexible scanning head (Bioptigen Inc. Durham, NC, USA).

Results

Two related patients aged 30 and 60 years, with MLVT and identified c.R345W mutation in the EFEMP1 gene, were tested. Mother and daughter showed a variable phenotype with reduced vision function

SUBMITTER: Gerth C 

PROVIDER: S-EPMC2734481 | biostudies-literature | 2009 Feb

REPOSITORIES: biostudies-literature