Identification of a novel VMD2 mutation in Japanese patients with Best disease.
OBJECTIVE
To report a novel VMD2 gene mutation in a Japanese family with Best disease and the clinical phenotype of the patients.


METHODS
Mutational analysis for VMD2 was performed by direct sequencing in two members of a Japanese family with Best disease. Clinical examination included visual acuity, electro-oculography (EOG), and fundus examination.


RESULTS
A T990C mutation of the VMD2 gene was found in the 20-year-old boy and his 47-year-old mother. The boy had bilateral vitelliform cyst-like lesions in both eyes and showed a pathological Arden ratio of 1.0 on EOG. The mother had a normal fundus appearance with an Arden ratio of 1.0 on EOG.


CONCLUSIONS
A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease.
Yanagi
Yasuo
Y
Department of Ophthalmology, University of Tokyo School of Medicine, Tokyo, Japan. yanagi-tky@umin.ac.jp
Sekine
Hisaki
H
Mori
Mikiro
M
D000328:Adult; D000075002:Bestrophins; D018118:Chloride Channels; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004585:Electrooculography; D004596:Electroretinography; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree
C113133:BEST1 protein, human; D000075002:Bestrophins; D018118:Chloride Channels; D005136:Eye Proteins; D004247:DNA