Identification of a novel VMD2 mutation in Japanese patients with Best disease

Purpose: To report a novel VMD2 gene mutation in a Japanese family with Best disease and the clinical phenotype of the patients. Patients and 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. Conclusion: A novel disease-causing mutation in the VMD2 gene (T990C) was found in Japanese patients with Best disease.

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