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Biomedical subjects

Hiroyuki Iijima

Publications and source records attributed to Hiroyuki Iijima.

At least 19 recordsLinked to original sources

The OPA1 gene polymorphism is associated with normal tension and high tension glaucoma.

PURPOSE: To assess whether genetic polymorphisms of optic atrophy 1 (OPA1) are associated with primary open-angle glaucoma (POAG). DESIGN: Prospective case control association study. METHODS: Japanese patients with normal tension glaucoma (NTG, n = 194), and high tension glaucoma (HTG, n = 191), and 185 control subjects were analyzed for the OPA1 intervening sequence (IVS) 8+4 cystosine thymine (C/T) and IVS 8+32 thymine cystosine (T/C) polymorphisms using pyrosequencing technique. RESULTS: There was a significant difference in the OPA1 IVS 8 +32 T/C genotype frequencies between the NTG patients and control subjects (P = .0074), and the frequency of the cystosine (C) allele was significantly higher in the NTG patients compared with the control subjects (19.3% vs 11.6%, P = .0036). Adjusted for age, gender, refractive error, and intraocular pressure, an almost two-fold increased risk of NTG (P = .004, odds ratio 2.27, 95% confidence interval 1.30 to 3.97) was found with the OPA1 IVS 8 +32 C allele. Although there was no significant difference in the OPA1 IVS 8 +32 T/C genotype frequencies between the HTG patients and control subjects (P = .24), the age at the time of diagnosis (53 +/- 11.0 years, median value +/- median absolute deviation) in the HTG patients with the OPA1 IVS 8 +32 C allele was significantly younger than that (57 +/- 12.0 years) in the HTG patients without C allele (P = .048). CONCLUSIONS: The OPA1 IVS 8 +32 T/C polymorphism is associated with NTG, and may be used as a marker for this disease association. This polymorphism also influences the phenotypic feature in patients with HTG and should be considered to be a genetic risk factor not only for NTG, but also for HTG.

Aged↗

Methylenetetrahydrofolate reductase gene polymorphisms c.677C/T and c.1298A/C are not associated with open angle glaucoma.

PURPOSE: To assess whether or not the c.677C/T and c.1298A/C genetic polymorphisms of the methylenetetrahydrofolate reductase (MTHFR) gene are associated with open angle glaucoma (OAG). METHODS: Genomic DNA was examined in a cohort of 131 Japanese patients with normal tension glaucoma (NTG), 133 patients with primary open angle glaucoma (POAG), and 106 control subjects. The mean age at the time of blood sampling was 62.8+/-13.3 years (mean+/-SD) in the patients with NTG, 61.8+/-15.4 years in the patients with POAG, and 65.0+/-10.5 years in the control subjects. MTHFR c.677C/T and c.1298A/C genotype and allele frequencies were determined using pyrosequencing analysis, and the findings were compared between the OAG patients and control subjects. The frequencies of compound MTHFR c.677C/T and c.1298A/C genotypes were also compared between OAG patients and control subjects. RESULTS: No significant differences were observed (p>0.05, chi2 test or Fisher's exact test) regarding the MTHFR c.677C/T genotype (TT: 14.5%, CT: 44.3%, CC: 41.2% for patients with NTG; TT: 20.3%, CT: 41.4%, CC: 38.3% for patients with POAG; TT: 17.9%, CT: 36.8%, CC: 45.3% for control subjects) and c.1298A/C (CC: 0%, AC: 38.9%, AA: 61.1% for patients with NTG; CC: 2.3%, AC: 32.3%, AA: 65.4% for patients with POAG; CC: 0.9%, AC: 41.5%, AA: 57.6% for control subjects). There were no allele frequencies between the NTG or POAG patients and the control subjects. In addition, no significant differences (p>0.05, chi2 test) were found in the frequencies of the compound MTHFR c.677C/T and c.1298A/C genotypes between the NTG or POAG patients and the control subjects. CONCLUSIONS: The MTHFR c.677C/T and c.1298A/C polymorphisms were not found to be associated with NTG and POAG. Further studies in the different ethnic populations should be performed to elucidate the relationship between MTHFR and OAG.

Adenine↗

The apolipoprotein E gene polymorphism is associated with open angle glaucoma in the Japanese population.

PURPOSE: To assess whether genetic polymorphisms of the apolipoprotein E (APOE) gene are associated with open angle glaucoma (OAG) in the Japanese population. METHODS: Genomic DNA was examined in a cohort of 310 Japanese patients with OAG and 179 control subjects. The average age was 63.5+/-14.4 years (mean+/-SD) for the OAG patients and 65.5+/-11.6 years for the control subjects. The presence or absence of OAG in patients and controls was based on clinical examination and/or ophthalmic records. The APOE allele frequency (epsilon2, epsilon3, and epsilon4 alleles) was studied by restriction fragment length polymorphism, and compared between OAG patients and control subjects. The association between the intraocular pressure (IOP) and the APOE alleles was also evaluated. RESULTS: There was a significant difference in the APOE genotype frequencies between these groups (p=0.0006 chi2 test). The frequencies of the epsilon2 and epsilon4 alleles were significantly lower in the OAG patients (epsilon2: 2.6%; epsilon4: 6.0%) compared to the control subjects (epsilon2: 5.0%, p=0.048; epsilon4: 10.6%, p=0.012; Fisher's exact test). The frequency of the epsilon3 allele was significantly higher in the OAG patients (91.4%) compared to the control subjects (84.4%, p=0.0010; Fisher's exact test). Adjusted for age, gender, and IOP, an appropriate three fold reduction in OAG risk (odds ratio [OR] 0.29, 95% confidence interval [CI] 0.10 to 0.80; p=0.018) was found with the epsilon2 allele and a two fold increased risk of OAG (OR 1.97, 95% CI 1.06 to 3.67; p=0.033) was found with the epsilon3 allele. The maximum IOP (18.3+/-6.0 mm Hg) in patients with the epsilon4 allele was significantly lower than that (21.3+/-9.1 mm Hg) in patients without the epsilon4 allele (p=0.006, Student's t-test). CONCLUSIONS: The APOE gene polymorphism is associated with OAG in the Japanese population. Further studies in the other ethnic populations should be performed to elucidate the relationship between APOE and OAG.

Aged↗

Mutations in the optineurin gene in Japanese patients with primary open-angle glaucoma and normal tension glaucoma.

The optineurin gene (OPTN) was identified as a gene that causes primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). To investigate the frequency of sequence changes in OPTN in Japanese glaucoma patients, single-strand conformation polymorphism analysis and subsequent sequence analysis were performed for genotyping OPTN in 165 unrelated Japanese patients with POAG and 148 patients with NTG, with 196 control subjects without glaucoma as reference subjects. Out of four mutations reported to be associated with risk and to cause disease in Caucasian patients, sequence alterations in 458G > A and 691_692insAG were not detected in any investigated Japanese patients with glaucoma, and alterations in 1944G > A and 603T > A, were present in similar frequencies in glaucoma patients and control subjects. The current results suggest that there may be certain racial differences between Japanese and Caucasians with respect to OPTN genotypes.

Adult↗

[Reliable parameters for assessing the birefringence of retinal nerve fiber layer under various conditions of corneal birefringence].

PURPOSE: To find a reliable parameter for the assessment of parafoveal nerve fiber layer using scanning laser polarimetry. METHODS: The retinal nerve fiber layer was imaged using a Nerve Fiber Analyzer II (NFA II) along the parafoveal circle with a 90-pixel diameter in 4 dilated eyes of 4 normal subjects. The average thickness was measured in the superior(S), temporal(T), inferior(I), and nasal(N) quadrants. The image was obtained by means of a laser beam passing through 4 different locations in the cornea: the center, 2 mm temporal from the center, 2 mm lower temporal from the center, and 2 mm lower from the center. RESULTS: The circumference profile of the nerve fiber layer around the fovea showed a biphasic pattern similar to that obtained around the optic disc. However, the peaks of the pattern varied according to the corneal location through which the laser beam passed. Accordingly, the average thickness of the nerve fiber layer in each quadrant showed great fluctuation when using a displaced laser beam. The coefficient of variance was large (0.265-0.313) for the nerve fiber layer thickness itself; however, it was far less for the ratio of the nerve fiber layer thickness in the opposite direction, such as temporal-to-nasal (0.082) or superior-to-inferior (0.089). CONCLUSIONS: Although the measurement of the retinal nerve fiber thickness itself depends largely on the location in the birefringent cornea through which the laser beam passes, the ratios of nerve fiber layer thickness such as temporal-to-nasal or superior-to-inferior are reliable and show less fluctuation in the measured values.

Adolescent↗

The association between Japanese primary open-angle glaucoma and normal tension glaucoma patients and the optineurin gene.

Glaucoma represents one of the most common eye diseases and is characterized by progressive loss of visual fields. In the more advanced stages bilateral blindness may result, due to optic nerve atrophy and an excavated optic nerve head. Open-angle glaucoma is one of the main disease subsets, which may be further divided into high tension primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG). Recently, the optineurin ( OPTN) gene was identified as a causative factor for NTG. Alterations in this gene were found in Caucasian families with NTG. In particular, c.458G>A, c.691-692insAG and c.1944G>A were shown to be risk factors. Since NTG is reported to be the most common form of glaucoma in Japan, and to identify if the OPTN gene plays a role in POAG, the DNAs from 148 unrelated Japanese patients with NTG, 165 patients with POAG and 196 unrelated controls who were not suffering glaucoma were investigated by appropriate genotyping techniques. No glaucoma-specific mutations were found in the OPTN gene in Japanese glaucoma patients. However, some novel single-nucleotide polymorphisms (SNPs) in the exons and introns are reported in this paper for the first time.

Adult↗

Spontaneous closure of stage 2 macular hole observed with optical coherence tomography.

PURPOSE: To report the clinical course and images of optical coherence tomography of an eye with a stage 2 macular hole which closed spontaneously. DESIGN: Observational case report. METHODS: Serial optical coherence tomographic images were obtained. RESULTS: A 67-year-old woman received a diagnosis of stage 2 idiopathic macular hole in her right eye. The diagnosis was made with a tomographic image of a full-thickness dehiscence of the neurosensory retina at the fovea. The posterior hyaloid membrane was adhering to the edge of the dehiscence. Four weeks later, the closure of the macular hole was ascertained with optical coherence tomography. The posterior hyaloid membrane was fully separated from the fovea. CONCLUSION: A stage 2 macular hole may close spontaneously with the separation of the hyaloid membrane.

Aged↗

Multiple retinal vein occlusions in essential thrombocythemia.

PURPOSE: To report the ophthalmoscopic and angiographic evidence of both temporally and spatially independent multiple occlusions of the retinal veins in a patient with essential thrombocythemia. METHODS: Observational case report. Ophthalmic examinations, including fluorescein fundus angiogram, were performed on a 77-year-old male, who was found to have essential thrombocythemia. RESULTS: An acute impending central retinal vein occlusion in the left eye was diagnosed with coexisting old retinal vein occlusions evidenced by white vessels and capillary nonperfusion in both eyes. Peripheral retinal capillary dropout was also found angiographically in the right eye. CONCLUSION: Bilateral multiple occlusions of retinal veins in the present case suggest a prothrombotic tendency in retinal circulation in essential thrombocythemia.

Acute Disease↗

Optical coherence tomography of choroidal osteoma.

PURPOSE: To examine the cross-sectional structure of a choroidal osteoma using optical coherence tomography. METHODS: Observational case report. A choroidal osteoma in the right eye of a 22-year-old woman was studied with fluorescein and indocyanine green fundus angiograms and optical coherence tomography. RESULTS: The optical coherence tomography showed that a creamy-white lesion in the tumor had an increased reflectivity with a cavernous structure, whereas an orange lesion showed less reflectivity beneath the apparently intact retinal pigment epithelium. The area of less-intense whiteness in the creamy-white lesion showed higher reflectivity at the level of the retinal pigment epithelium, which precluded our viewing the deeper structure of the tumor. CONCLUSION: Optical coherence tomography can demonstrate the cavernous structure of a choroidal osteoma at a selective stage of a tumor's evolution, namely, when the retinal pigment epithelium is atrophied and the ossification is premature.

Adult↗

A case of adult influenza A virus-associated encephalitis: magnetic resonance imaging findings.

A 27-year-old man presented with fever, convulsive seizure, and sudden impairment of consciousness. Magnetic resonance imaging (MRI) abnormalities were found in the bilateral thalami, including the brain stem and white matter. The possibility of a previous influenza A virus infection was considered, and cerebrospinal fluid cells and interleukin-6 were elevated. The MRI findings closely resembled those found in cases of childhood acute necrotizing encephalopathy (ANE). The present case suggests that adult influenza A virus-associated encephalitis/encephalopathy or ANE can occur during winter influenza epidemics.

Adult↗

Recovery of visual field loss due to central retinal artery occlusion.

BACKGROUND: The recovery of the visual field in eyes with central retinal artery occlusion (CRAO) has rarely been reported, because the patient has difficulty in central fixation during perimetry testing due to poor visual acuity. We describe the recovery of the central visual field in eyes with atypical CRAO. CASES: Two patients who showed sudden visual loss underwent ophthalmic examinations, including fluorescein fundus angiography and Humphrey central 30-2 perimetry. OBSERVATIONS: Both patients had good visual acuity at presentation, with normal retinal color in the area of the papillomacular bundle surrounded by a mild retinal whitening in one case and by scattered cotton-wool patches in the other. They were considered on the basis of angiographic findings to have central retinal artery occlusion. The mean deviation of the Humphrey central 30-2 perimetry gradually improved during the initial 70 days after the onset of symptoms in both patients. CONCLUSIONS: Although the mechanism remains to be clarified, a certain degree of visual field recovery may be seen in some cases of retinal artery occlusion. More patients with CRAO should be studied with follow-up perimetry.

Fluorescein Angiography↗

Visual outcome in central retinal and branch retinal artery occlusion.

PURPOSE: To study retrospectively the presenting visual acuity and the visual outcome in patients with central retinal artery occlusion (CRAO) and in patients with branch retinal artery occlusion (BRAO). METHODS: We studied the visual acuity and outcome in 23 patients (23 eyes) with CRAO and in 30 patients (30 eyes) with BRAO that met the inclusion criteria: a funduscopic appearance of retinal whitening, a delay in arterial dye filling in a fluorescein angiogram, the first examination in our hospital within 7 days of onset, and a minimum follow-up period of 90 days. RESULTS: Both presenting acuity and final acuity were far worse in patients with CRAO than in patients with BRAO. A final acuity worse than 0.1 was observed in 14 of the 23 (61%) patients with CRAO and in only 1 of the 30 (3%) patients with BRAO. Only 5 of the 23 (22%) patients with CRAO and 24 of the 30 (80%) patients with BRAO showed a final acuity of 0.5 or better. CONCLUSION: Visual acuity in patients with CRAO is poor at presentation, and the prognosis is generally poor, with a few exceptions. In contrast, the visual acuity in patients with BRAO is far better both at presentation and at the final visit.

Adolescent↗

Personality assessment based on the five-factor model of personality structure in patients with primary open-angle glaucoma.

PURPOSE: Several characteristic personality types have been reported for glaucoma patients in previous studies. However, none of the previous studies used a common structural theory of personality. In this study, we conducted a multicenter cross-sectional case-control study using the recently established five-factor model of personality structure. METHODS: Personality was evaluated using the Neuroticism Extraversion Openness Five-Factor Inventory (NEO-FFI), which is a questionnaire specifically designed to test the five-factor model of personality: neuroticism (N), extraversion (E), openness (O), agreeableness (A), and conscientiousness (C). Eligible questionnaires were obtained from 196 patients with primary open-angle glaucoma (POAG) (99 men, 97 women) and 223 reference subjects with no ocular disease except cataract (87 men, 136 women). The mean score of each NEO-FFI factor for POAG patients was compared to the scores for the reference subjects. RESULTS: Compared with the reference subjects, the mean N score was significantly higher (P = 0.013), the mean scores for A and C were significantly lower (P = 0.007 and P = 0.001, respectively), and the mean E score tended to be lower (P = 0.055) in male POAG patients. The mean E score was significantly lower (P = 0.023) in female POAG patients. CONCLUSIONS: Characteristic personality traits were noted in POAG patients, and a more significant relationship was found between personality and glaucoma in men than in women.

Aged↗