New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

摘要

PurposeThe mutations responsible for Best vitelliform macular dystrophy (BVMD) are found in a gene called VMD2. The VMD2 gene encodes a transmembrane protein named bestrophin‐1 (hBest1) which is a Ca²⁺‐sensitive chloride channel. This study was performed to identify disease‐specific mutations in 27 patients with BVMD. Because this disease is characterised by an alteration in Cl⁻ channel function, patch clamp analysis was used to test the hypothesis that one of the VMD2 mutated variants causes the disease.