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Purpose: To report a novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1 (OPA1) and to describe the clinical features of this family. Methods: Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations. Results: The proband and his sons had a heterozygous mutation of the OPA1 gene in the third nucleotide of intron 12 (IVS12+3A→T). Clinically, each patient had reduced visual acuity (onset within the first 6 years of life) and optic nerve pallor. The proband showed bilateral central scotomas and generalized dyschroatopsia. This is the first report of OPA1 gene mutation in Japanese patients with familial optic atrophy. Conclusions: A mutation of the OPA1 gene was detected in a Japanese family with OPA1, which follows the same pattern as reported in Western countries. It is suggested that mutations of the OPA1 gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients.

We describe a Japanese patient with cutaneous plasmacytosis whose clinical course we observed for 5 years. We also review 26 patients with this condition, including 24 Japanese and two non-Japanese, reported in detail. This review revealed that this condition has characteristic clinical and pathologic features and should be considered a distinct clinical entity. The reason for the predominant occurrence of cutaneous plasmacytosis in Japanese patients is unknown.

Purpose : To report a novel mutation of the typel optic atrophy(OPA1) gene in a Japanese family with OPA1 and to describe the clinical features of this family. Methods : Standard ocular examinations were performed on the proband and his two affected sons. The DNA sequence of all exons and splice sites of the OPA1 gene was determined to detect mutations. Results : The proband and his sons had a heterozygous mutation of the OPA1 gene in the third nucleotide of intron 12(IVS12+3A→T). Clinically, each patient had reduced visual acuity (onset within the first 6 years of life) and optic nerve pallor. The proband showed a central scotoma and generaact lized dyschromatopsia. This is the first report of OPA1 gene mutation in Japanese patients with familial optic atrophy. Conclusions: A mutation of the OPA1 gene was detected in a Japanese family with OPA1, which follows the same pattern as reported in Western countries. It is suggested that mutations of the OPAL gene contribute to the development of optic nerve atrophy regardless of ethnic groups. Screening for the OPA1 gene mutation will be useful for diagnosis of OPA1 in Japanese patients.

1,2-α- d -Mannosidase from Aspergillus saitoi was inactivated by chemical modification using water-soluble carbodiimide (1-ethyl-3-(3-dimethylaminopropyl)carbodiimide) (EDC) and glycine ethyl ester (GEE). The inactivation rate increased in proportion to the concentration of EDC. Kinetic analysis suggested that inactivation of the enzyme occurred by modification of one essential carboxyl group.