[Pilot study to resolve problems of visual acuity assessment in grading vision of the physically handicapped--visual acuity and difficulties in daily life of age-related macular degeneration-].

PURPOSE: To resolve the problems of visual acuity assessment in grading the vision of the physically handicapped as proposed by the Subcommittee for Promoting the Realization of a Cohesive Society with the Visually Disabled, Science Council of Japan, a method suitable for assessing visual disturbances, and the relationship between the degree of visual disturbances and the degree of difficulty in activities of daily life are clarified. SUBJECTS AND METHODS: 151 persons with age-related macular degeneration were studied. Examination methods for measuring visual acuity and reading performance were studied, and interviews using the daily living task dependent on vision (DLTV) questionnaire were performed. The correlations between total DLTV score and each examination method were analyzed. The median total DLTV score for each grade of visual acuity of the better eye was calculated. RESULTS: Spearman's correlation coefficient between distance corrected visual acuity of the better eye and total DLTV score was 0.76. Median DLTV scores for visual acuities (better eye) of 0.2, 0.3, 0.4, 0.5 were 65, 73.5, 62, 79 respectively. CONCLUSION: Visual acuity can be assessed by measuring distant corrected visual acuity of the better eye and setting the upper limit of visual disturbance at either 0.3 or 0.4.

[Pathophysiology and diagnosis of congenital periodic alternating nystagmus].

PURPOSE: Not many cases of congenital periodic alternating nystagmus have been reported in Japan. We investigated the pathophysiology and diagnosis of congenital periodic alternating nystagmus noting the age when this disease began, which had not been reported previously. SUBJECTS: Ninety-one patients with congenital nystagmus who were seen in our department in Teikyo University School of Medicine between July 1994 and January 2002 were studied. RESULTS: Eighteen patients(19.8%) among the 91 congenital nystagmus patients were diagnosed with congenital periodic alternating nystagmus. A manifestation of the periodic face turning was seen between the age of three and nine. Visual acuity over 0.6 with correction was obtained in all patients. Almost all the patients had an asymmetric cycle of null point shifting and the face turning was seen at one side for a long time. CONCLUSION: When we see congenital nystagmus patients whose face turning alters periodically with fairly good vision over the age of three, we must check out the direction of jerk nystagmus changes at the same gazing point using electronystagmography or video cassette recording to detect the possibility of congenital periodic alternating nystagmus.

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.

Outcome of surgery for bilateral third nerve palsy.

PURPOSE: To review the outcome of surgery for bilateral third nerve palsy. METHODS: The series comprised 16 cases. The eye deviation in the primary position averaged -27.0 degrees horizontally. Surgery was aimed at bringing both eyes into alignment in the primary position by recession-resection of horizontal muscles. Transposition of the superior oblique was performed for complete third nerve palsy. Surgery was initially performed on the nonfixating eye. The fellow eye underwent further surgery for residual disorders. RESULTS: Within 6 months after surgery, the eye deviation in the primary position averaged -0.7 degrees horizontally. After longer follow-up, the eye deviation averaged -4.7 degrees horizontally. Postoperatively, diplopia in the primary position was absent in 11 and remained in 5 cases. CONCLUSION: Surgery for bilateral third nerve paresis or palsy achieved lasting cosmetic or functional improvements in the majority of cases.

[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.

[Outcome of surgery for bilateral third nerve disorder].

PURPOSE: To review the outcome of surgery for bilateral third nerve palsy. CASES AND METHODS: The series comprised 16 cases. The eye deviation in the primary position averaged -27.0 degrees horizontally. Surgery was aimed at bringing both eyes into alignment in the primary position by recession-resection of the horizontal muscles. Transposition of the superior oblique was performed for complete third nerve palsy. Surgery was initially performed on the nonfixating eye. The fellow eye received further surgery for residual disorders. RESULTS: Within 6 months after surgery, the eye deviation in the primary position averaged -0.7 degrees horizontally. After longer follow-up, the eye deviation averaged -4.7 degrees horizontally. Postoperatively, diplopia in the primary position was absent in 11 and present in 5 cases. CONCLUSION: Surgery for bilateral third nerve paresis or palsy induced lasting cosmetic or functional improvements in the majority of cases.