Nobue Kubota

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 patients 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.

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.

Multicenter genetic study of retinitis pigmentosa in Japan: I. Genetic heterogeneity in typical retinitis pigmentosa☆

A nationwide, multicenter study of typical retinitis pigmentosa (RP) was carried out in collaboration with 18 hospitals throughout Japan to obtain current information for genetic counseling. We analyzed the genetic heterogeneity of RP based on the parental consanguinity of 434 probands registered during a 6-month period in 1990. A gradual decline in the frequency of consanguineous marriage was recognized among the normal parents of RP patients. The relative frequencies of inheritance patterns were estimated as: autosomal recessive, 25.2%; autosomal dominant, 16.9%; X-linked, 1.6%; and simplex, 56.3%. A comparison of these results with previous reports in Japan revealed a decline in the relative frequency of autosomal recessive cases and an increase in simplex cases. This suggests a decrease in the incidence of autosomal recessive retinitis pigmentosa in Japan, as well as the necessity for exhaustive investigations aimed at identifying inheritance patterns for RP patients seeking genetic counseling.

Results of Surgery for Paralytic Exotropia due to Oculomotor Palsy

In 138 cases of paralytic exotropia due to oculomotor palsy, transposition of the superior oblique muscle and resection of the medial rectus muscle were carried out. Surgery was performed with or without recession of the lateral rectus muscle. The long-term prognosis for 4 years or more was observed in 35 cases. We found that the same results could be obtained by selecting transposition of the superior oblique muscle in cases of complete palsy and resection of the medical rectus muscle in cases of incomplete palsy. There was no benefit in combining resection of the medial rectus muscle when performing the transposition of the superior oblique muscle. Regardless of which method was used, a combination with recession of the lateral rectus muscle greatly improved the effectiveness of the procedure.

Multicenter genetic study of retinitis pigmentosa in Japan: II. Prevalence of autosomal recessive retinitis pigmentosa

Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with autosomal recessive (AR), autosomal dominant, and X-linked modes of inheritance. Autosomal recessive retinitis pigmentosa (ARRP) is the most common form in Japan. A genetic analysis was done to determine the prevalence of ARRP indirectly, to provide an estimation of changing trends in the overall prevalence of RP. Data on the frequency of consanguinity and marriage year of normal parents of 59 ARRP patients were obtained from a nationwide multicenter survey of typical retinitis pigmentosa conducted in 1990. The gene frequency of ARRP was 0.01145 (Dahlbergs formula). In 1990, the number of young symptomatic ARRP patients decreased, while the number of patients aged 40 years and older increased. The total number of symptomatic ARRP patients in 1990 was nearly 21% higher than in 1970. Despite a dramatic decline in consanguinity in recent decades in Japan, the number of ARRP patients has increased. This increase is attributed to greater longevity and overall population growth. Our results suggest that the total number of RP patients has not decreased, and may even have increased.

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.

Long-term Follow-up of Refractive Accommodative Esotropia

In cases of refractive accommodative esotropia, orthophoria is achieved through the use of hyperopia glasses, and the prognosis is considered good. However, esotropia accompanied by abnormal binocular function is often accompanied by DVD, IOOA, etc., and the use of glasses alone in such cases does not lead to a good prognosis. Furthermore, even in cases of fully refractive accommodative esotropia in which the use of glasses alone leads to orthophoria, normal binocular function, and a good prognosis, it is a major concern of the patient as to when the usage of the glasses may be safely discontinued.

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.

Binocular Function of Intermittent Exotropia Before and After Surgery

PURPOSE We examined the binocular function of intermittent exotropia before and after surgery, and studied the effect of the surgery and the factor that might be involved in its result. MATERIALS AND METHODS 402 intermittent exotropic patients, who underwent their first surgical correction for the strabismus at Teikyo University Hospital, were examined for retinal correspondence and stereo acuity before and after surgery. RESULTS 367 patients (91.3%) had already had good stereo acuity before surgery when their eyes were straight. Regarding retinal correspondence, though 192 patients (47.8%) were abnormal (dual) before surgery, 301 patients (74.9%) were normal after surgery. The eye deviation of 101 patients who could not get normal retinal correspondence after surgery was significantly larger than normal (p < 0.001), and 77.2% of them had also vertical strabismus which was mainly composed of dissociated vertical deviation. CONCLUSION Normal binocular function could be recovered by surgical treatment in most intermittent exotropic patients. When patients could not get normal retinal correspondence after surgery, we supposed that dissociated vertical deviation might exert an important effect upon their binocular function.

A clear cell type meningioma in the upper eyelid ascertained by immunohistochemical examination

BACKGROUND We encountered a rare case of clear cell meningioma in the upper eyelid. CASE A 66-year-old man presented with a slow by progressive, well-defined, soft globelar tumor in the left upper eyelid. The tumor showed homogeneous isodensity and was contrasty in a computed tomograph. Histologically, oval-shaped cells with clear cytoplasm had both streamed and whorl configurations, but showed neither psammomas nor calcification. Immunohistochemically, vimentin, epithelial membrane antigen, and protein S-100 were expressed by the tumor cells. CONCLUSIONS Eyelid meningioma may originate from embryonal remains of the arachnoid in the sheath around the trigeminal nerve, and may vary histologically. Immunohistochemical examination helps to define cases of uncommon subtypes of meningioma.