Journal article

In vivo micropathology of Best macular dystrophy with optical coherence tomography

MJ Pianta, TS Aleman, AV Cideciyan, JS Sunness, YY Li, BA Campochiaro, PA Campochiaro, DJ Zack, EM Stone, SG Jacobson

EXPERIMENTAL EYE RESEARCH | ACADEMIC PRESS LTD ELSEVIER SCIENCE LTD | Published : 2003

Abstract

Best macular dystrophy (BMD) is an autosomal dominant retinopathy caused by mutations in the VMD2 gene that encodes a chloride channel in the basolateral membrane of the retinal pigment epithelium (RPE). BMD patients were studied using optical coherence tomography (OCT) to understand the disease process in the macula leading to vision loss. BMD patients (ages 5-61), representing four families with known VMD2 mutations, were included. OCT scans were recorded in the central retina and longitudinal reflectivity profiles were analysed. The central retina in BMD showed different OCT abnormalities at or near the level of the highly reflective deep retinal band termed the outer retina-choroid compl..

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