A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.

PURPOSE: To report a novel mutation of the OPA1 gene in a Japanese patient with optic atrophy and to describe the clinical features of the patient. DESIGN: Observational case report. METHODS: Genomic DNA was extracted from leukocytes of four unrelated Japanese patients with optic atrophy. All the exons and splice sites of the OPA1 gene were amplified by polymerase chain reaction and directly sequenced. RESULTS: One patient with optic atrophy had a heterozygous Arg445His mutation in the OPA1 gene. The Arg445His mutation was detected neither in 110 control subjects nor in the patient's healthy family members. CONCLUSIONS: A novel mutation of the OPA1 gene, similar to those reported in Western countries, was detected in a Japanese patient with optic atrophy. Mutations of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanese cases of optic atrophy.

[Transdifferentiation of conjunctival epithelium after ocular surface rehabilitation through deep lamellar sclerokeratoplasty].

PURPOSE: The quality of the postoperative corneal epithelia of patients with severe ocular surface disorders, whose ocular surface had been reconstructed through deep lamellar sclerokeratoplasty (DLSKP) using allografts, was examined. PATIENTS AND METHODS: Six eyes with ocular surface disorders in 6 patients who had received DLSKP were observed for periods of 2 years or longer (average: 3 years and 10 months). The rehabilitated corneal epithelium cells of some of these patients were analyzed with impression cytology and fluorescence in situ hybridization (FISH) analysis methods. RESULTS: All 3 cases analyzed using the impression cytology method showed normal corneal epithelium cell forms. In the 2 cases analyzed also with the FISH analysis method, in which the hosts and donors were of the opposite gender, the cells were host-derived (99.3% and 98.8%). CONCLUSION: It is considered that rehabilitation of severe ocular surface disorders using allograft epithelial transplantation procedures, including DL-SKP, is eventually concluded by transdifferentiation of the conjunctival epithelium cells derived from the host.

[A novel mutation of the type 1 optic atrophy(OPA1) gene in a Japanese family with OPA1].

PURPOSE: To report a novel mutation of the type1 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 generalized 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 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.

A novel mutation of the OPA1 gene in a Japanese family with optic atrophy type 1.

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.