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T. Itabashi, Y. Wada, M. Kawamura, H. Sato, M. Tamai; Clinical Features of Japanese Families Associated with 402 delT and 555-556 delAG Mutations in the CHM Gene . Invest. Ophthalmol. Vis. Sci. 2003;44(13):1487.
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Purpose:To characterize the clinical features of two Japanese families with choroideremia associated with 402 delT and 555-556 delAG mutations in the CHM gene. Methods:Four affected members and one obligate carrier from two Japanese families with choroideremia were studied. The products of PCR were directly sequenced in both directions to search for mutations in the CHM gene. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. Results:A 402 delT mutation was found in one family and a 555-556 delAG mutation was found in the second, unrelated Japanese family with choroideremia. All affected members had night-blindness, progressive constriction of the visual field, chorioretinal atrophy, and a mottled appearance of the retinal pigment epithelium. The obligate carrier showed mild, patchy areas of retinal pigment epithelial atrophy with no visual symptoms. Conclusions:We found two mutations, 402 delT and 555-556 delAG, in the CHM gene, one of them (402 delT) was a novel mutation. We concluded that these mutations cause choroideremia in Japanese families.
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