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S. Yokokura, Y. Wada, T. Itabashi, H. Sato, K. Nishida; A Novel Gly222Glu Mutation in VMD2 Causes Best Macular Dystrophy in Japanese Population . Invest. Ophthalmol. Vis. Sci. 2006;47(13):1051.
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© ARVO (1962-2015); The Authors (2016-present)
To determine the kind of mutations in the VMD2 gene in 2 Japanese patients with Best macular dystrophy (BMD) and to characterize the clinical features of patients with the Gly222Glu mutation in the VMD2 gene.
All 11 exons of the VMD2 gene were directly sequenced in 2 unrelated patients with BMD and 86 patients with cone rod dystrophy (CRD). The clinical features were determined by best–corrected visual acuity, slit lamp biomicroscopy, fundus examination, electrooculogram, fluorescein angiography (FA), indocianine–green angiography (IA),and kinetic visual field tests.
The identical novel Gly222Glu mutation in the VMD2 gene was identified in two unrelated patients with BMD. A 32–year–old man (Case1) and a 36–year–old woman (Case2) showed bilateral and unilateral decrease of central vision, respectively. The ophthalmologic findings were those of typical BMD. A comparison of ophthalmologic findings at age 24 years and 36 years in case2 indicated slow progression of macular degeneration, and no remarkable changes in visual acuity during the 12 years.
Our study demonstrated that a novel Gly222Glu mutation caused BMD in Japanese population, and long term observation for one patient with this mutation demonstrated that the clinical features caused by Gly222Glu mutation showed slow progression in fundus appearance and visual acuity.
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