Article
Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene.
Ophthalmic genetics - 1 Dec 1999
Ponjavic V, Eksandh L, Andréasson S, Sjöström K, Bakall B, Ingvast S, Wadelius C, Ehinger B
Abstract excerpt
OBJECTIVE: To examine the clinical phenotype of three Swedish families with Best's vitelliform macular dystrophy (BMD) and three different mutations in the recently identified bestrophin gene. METHODS: Three families, including 13 patients, were examined clinically using visual acuity testing, electro-oculography, fundus inspection, and fundus photography. The mutations were previously determined by direct...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.