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1.
Sofia Bhatia Shiwali Goyal Indu R. Singh Daljit Singh Vanita Vanita 《Documenta ophthalmologica. Advances in ophthalmology》2018,137(2):103-119
Purpose
To identify the underlying genetic defect for non-syndromic autosomal dominant retinitis pigmentosa (adRP) with incomplete penetrance in a North Indian family.Methods
Family history and clinical data were collected. Linkage analysis using 72 fluorescently labeled microsatellite markers flanking all the 26 candidate genes known for adRP was performed. Mutation screening in candidate gene at the mapped region was performed by bi-directional DNA sequencing.Results
Positive two-point lod scores?>?1.0 (θ?=?0.000) suggestive of linkage were obtained with markers D19S572, D19S927 and D19S926 at 19q13.42, in the vicinity of PRPF31 gene. Mutation screening in all the 14 exonic regions and intron–exon boundaries of PRPF31 revealed a novel change, i.e. c.896G>A (p.Cys299Tyr) in exon eight. The observed change segregated in heterozygous form in all the six affected members and in three carriers, consistent with incomplete penetrance. This substitution was not observed in tested 15 unaffected members and in 200 ethnically matched controls.Conclusion
Present study describes mapping of a locus for non-syndromic adRP with incomplete penetrance at 19q13.42 in a North Indian family and identifies a novel missense mutation (p.Cys299Tyr) in PRPF31 localized at the mapped interval. The observed substitution lies in the NOP domain of PRPF31 that exhibit RNA and protein binding surfaces and thus may interfere in the formation of spliceosome complex. Due to p.Cys299Tyr substitution hydrogen bonds are generated, which may result in conformational changes and PRPF31 protein deformity. Present findings further substantiate the role of PRPF31 in adRP with incomplete penetrance and expand the mutation spectrum of PRPF31.2.
Purpose
To determine whether single-nucleotide polymorphisms (SNPs) within the transforming growth factor-β1 (TGF-β1) gene are associated with high myopia in Japanese. Previous studies have indicated that the gene expression products, regulators of the TGF-β1 gene, are involved in high myopia.Methods
Genomic DNA samples were obtained from 330 Japanese patients with high myopia and 330 Japanese controls without high myopia who were chosen at random. SNPs were genotyped by the TaqMan system, using primer extension and polymerase chain reaction amplification.Results
Ten SNPs were identified in the high-myopia patients and controls, with four of the ten SNPs having nonsynonymous changes. However, no statistical differences in the SNPs were detected between the high-myopia cases and the controls.Conclusions
Sequence variants of the TGF-β1 gene were not associated significantly with high myopia, and further studies are needed to identify which genes are responsible for high myopia.?Jpn J Ophthalmol 2007;51:96–99 © Japanese Ophthalmological Society 20073.
Mizuki N Meguro A Tohnai I Gül A Ohno S Mizuki N 《Japanese journal of ophthalmology》2007,51(6):431-436
Purpose
Behçet's disease (BD) is known to be associated with HLA-B*51 in many different ethnic groups. Recently, the major histocompatibility complex class I chain-related gene A (MICA), located near the HLA-B gene, has been proposed as a candidate gene for BD susceptibility in several ethnic groups. To compare the relative contribution of MICA polymorphisms and HLA-B*51 to BD in different ethnic groups, we studied MICA polymorphisms in Turkish BD patients.Methods
Thirty-three Turkish BD patients and 65 healthy controls were enrolled for analysis of polymorphisms in the extracellular domains of MICA.Results
The phenotype frequencies of MICA*009 were significantly higher in BD patients (75.8%) than in controls (29.2%) (P = 0.000015). HLA-B*51 was also significantly more frequent in BD patients (81.8%) than in controls (29.2%) (P = 0.0000007). A strong association existed between MICA*009 and HLA-B*51. To assess the confounding effect of MICA*009 on HLA-B*51, we performed a stratification analysis that showed that BD was distinctly associated only with HLA-B*51.Conclusion
Our results indicate that the major susceptibility gene for BD is HLA-B*51 and that the association between MICA*009 and BD arises from a strong linkage disequilibrium with HLA-B*51. However, we suggest that MICA*009 likely elicits an immune effect secondary to BD.?Jpn J Ophthalmol 2007;51:431–436 © Japanese Ophthalmological Society 20074.
Ohzeki T Machida S Takahashi T Ohtaka K Kurosaka D 《Japanese journal of ophthalmology》2007,51(3):165-174
Purpose
To investigate how the third-order neuronal response contributes to shaping the electroretinogram (ERG) in the Royal College of Surgeons (RCS) rat.Methods
Full-field ERGs were recorded from dystrophic RCS rats (n = 30) at 4, 6, 8, 10, 12, or 14 weeks of age in response to different stimulus intensities (maximum intensity, 0.84?log?cd-s/m2). N-methyl-dl-aspartic acid (NMDA, 5?mM) was injected into the vitreous cavity of the right eyes to eliminate the third-order neuronal response. The left eyes received the vehicle and served as controls. The third-order neuronal response was isolated by digitally subtracting waveforms of the NMDA-injected eyes from those of the control eyes.Results
The ERG a- and b-waves deteriorated with the age of the rat. The third-order neuronal response was preserved to a greater degree than the b-wave despite progression of photoreceptor degeneration. Intravitreal injection of NMDA attenuated the a-wave and enhanced the b-wave across the stimulus range from low to middle intensities. This tendency became more pronounced with advancing rat age. In aged dystrophic RCS rats this phenomenon was seen even at maximum intensity. The difference between NMDA-injected and vehicle-injected eyes was larger for the threshold than for the maximum amplitude at each examined time point (P < 0.001). Intravitreal injection of NMDA decreased implicit times of the a- and b-waves after the rats reached 8 weeks of age (P < 0.005 for the a-wave).Conclusion
With advancing photoreceptor degeneration, the third-order neuronal response made a greater contribution to shaping the a- and b-waves in dystrophic RCS rats.?Jpn J Ophthalmol 2007;51:165–174 © Japanese Ophthalmological Society 20075.
Kentaro Kurata Katsuhiro Hosono Yoshihiro Hotta 《Japanese journal of ophthalmology》2018,62(2):186-193
Purpose
To assess the long-term clinical course of 2 patients with PRPF31-related retinitis pigmentosa (RP).Patients and methods
We clinically examined 2 unrelated patients with RP and collected peripheral blood samples from them. Ophthalmic examinations, including best-corrected visual acuity measurements, Goldmann perimetry, full-field electroretinography, fundus autofluorescence imaging, and optical coherence tomography, were also performed. The visual acuity and visual field were continuously monitored. To identify the causative mutations, 74 genes known to cause RP or Leber congenital amaurosis were examined via targeted next-generation sequencing.Results
The clinical courses of both patients were similar. The onset of nyctalopia occurred in the first decade. Fundus examination showed typical RP. Although the patients’ visual acuity was relatively preserved even into the fourth decade, the visual field area exhibited rapid deterioration in the mid-teens, with severe concentric constriction in the third decade. Mutation analysis revealed PRPF31 mutations as the cause for autosomal dominant RP in both patients.Conclusions
To the best of our knowledge, few reports of long-term observations pertaining to patients with PRPF31-related RP have been published. The findings reported herein, especially those relating to the progressive degeneration of the visual field, may ultimately play a role in the provision of high-quality counseling for patients with this condition.6.
Purpose
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis with approximately one-third of cases with associated ocular complications. Deletion of exons 4 to 10 of the nuclear factor κB essential modulator (NEMO) gene accounts for the majority of new mutations. The disease is more commonly found among Caucasians. We studied a case of an IP patient in Japan, and the genomic rearrangements.Methods
An 11-month-old female infant exhibited the skin lesions of IP. Ocular findings were total retinal detachment with a retrolental fibrovascular mass in the right eye, and patchy retinal avascular zones and neovascularization in the left eye. The genomic rearrangement of NEMO was investigated by a polymerase chain reaction (PCR)-based diagnostic test. A skewed X-inactivation assay was also performed using the human androgen receptor gene as a genetic marker.Results
Deletion of exons 4 to 10 in NEMO was detected in the proband and in other female members of her family. A complete skewing of the X-inactivation pattern causing IP was observed, indicating cells having no protection against apoptosis in response to tumor necrosis factor as the pathogenicity of the disease.Conclusion
This is the first case report of a Japanese female phenotype demonstrating the common genomic rearrangement in the NEMO gene.?Jpn J Ophthalmol 2007;51:142–145 © Japanese Ophthalmological Society 20077.
Ojima T Tanabe T Hangai M Yu S Morishita S Yoshimura N 《Japanese journal of ophthalmology》2007,51(3):197-203
Purpose
To evaluate retinal nerve fiber layer (RNFL) thickness and macular volume in normal eyes and in the eyes of patients with glaucoma, and to compare the usefulness of these measurements in diagnosing glaucomatous eyes.Methods
Eighty-one eyes were divided into three groups: normal control (n = 31), early glaucoma [n = 31, mean deviation (MD) ≥ ?6?dB], and advanced glaucoma (n = 19, MD < ?6?dB). The RNFL thickness and macular volume were measured using Stratus OCT (optical coherence tomography). Then, the diagnostic power of these parameters was evaluated.Results
In eyes with early glaucoma, RNFL thickness was decreased significantly in eight of the 12 peripapillary sectors, and macular volume was decreased significantly in six of the nine macular sectors, compared with normal eyes. In the advanced glaucoma eyes, RNFL and macular volume were decreased throughout, except in RNFL thickness in the papillomacular region, and in retinal thickness in the foveal region. The area under the receiver-operating characteristic curve (AUROC) of the average RNFL (0.963) was larger than the macular volume (0.919).Conclusions
Both peripapillary RNFL thickness and macular volume were decreased even in the early stage of glaucoma. Average RNFL thickness had greater diagnostic power than macular volume.?Jpn J Ophthalmol 2007;51:197–203 © Japanese Ophthalmological Society 20078.
Tosaka K Mashima Y Funayama T Ohtake Y Kimura I;Glaucoma Gene Research Group 《Japanese journal of ophthalmology》2007,51(6):417-423
Purpose
Heat-shock proteins (HSPs) or antibodies against them may contribute to glaucomatous optic neuropathy. We investigated the associations of HSP70-1 polymorphisms with open-angle glaucoma (OAG) in a Japanese population.Methods
In 241 normal Japanese controls and 501 Japanese OAG patients, including 211 with primary open-angle glaucoma (POAG) and 290 with normal-tension glaucoma (NTG), two single-nucleotide polymorphisms, A?110C and G+190C, of HSP70-1 were identified by using an Invader assay and polymerase chain reaction-restriction fragment length polymorphism, respectively. Genotype distributions were compared between controls and OAG patients. Age at diagnosis, untreated maximum intraocular pressure, and visual field defects at diagnosis were examined for associations with the polymorphisms.Results
Distribution of the A?110C genotype (AA versus AC+CC) differed significantly between controls and OAG patients (P = 0.007), POAG patients (P = 0.007), or NTG patients (P = 0.032). The genotype distribution of the G+190C polymorphism did not differ significantly between the controls and any patient group. No significant differences in the clinical characteristics of the patients were detected between genotype-defined groups by logistic regression analysis.Conclusion
The A?110C polymorphism of HSP70-1 may be associated with OAG pathogenesis in Japanese patients.?Jpn J Ophthalmol 2007;51:417–423 © Japanese Ophthalmological Society 20079.
Purpose
To evaluate the relation between induced changes in ocular higher order aberrations and changes in the contrast sensitivity function in patients undergoing excimer laser photorefractive keratectomy (PRK).Methods
Myopic PRK using excimer laser was performed in 31 patients (56 eyes). The preoperative refractive error was ?6.2 ± 2.9 diopters. Before and 1 month after surgery, we measured the ocular higher order aberrations for a 4-mm pupil, and three indices of contrast sensitivity function. From the data collected, the area under the log contrast sensitivity function (AULCSF) was calculated.Results
PRK significantly reduced AULCSF (P = 0.004), low-contrast visual acuity (P = 0.004), and letter-contrast sensitivity (P = 0.013). Coma-like (P < 0.001) and spherical-like (P < 0.001) aberrations were significantly increased by surgery. The change in AULCSF by surgery significantly correlated with the change in coma-like (r = ?0.468, P < 0.001) and spherical-like (r = ?0.291, P = 0.033) aberrations. The change in low-contrast visual acuity by PRK significantly correlated with the change in coma-like aberration (r = 0.599, P < 0.007), but not with change in spherical-like aberrations (r = 0.136, P = 0.326). There were significant correlations between changes in letter-contrast sensitivity and changes in coma-like (r = ?0.450, P < 0.001) and spherical-like (r = ?0.255, P = 0.048) aberrations.Conclusions
PRK significantly increases ocular higher order aberrations, which compromise contrast sensitivity function after surgery.?Jpn J Ophthalmol 2007;51:347–352 © Japanese Ophthalmological Society 200710.
Kojima M Sun L Hata I Sakamoto Y Sasaki H Sasaki K 《Japanese journal of ophthalmology》2007,51(1):10-13
Purpose
α-Lipoic acid (LA) is well known as a powerful antioxidant. The efficacy of dihydrolipoate-LA for oral administration against streptozotocin (STZ)-induced diabetic cataract in rat was investigated.Methods
Rats were divided into three groups, control, diabetes mellitus (DM), and DM treated with LA (DM+LA). Diabetes was induced by intravenous injection of 50?mg/kg STZ. DM+LA rats were fed 30?mg/rat per day LA in their diet. Lens changes were assessed using Scheimpflug images (EAS-1000) and by measuring light-scattering intensity.Results
Increase in lens light scattering was less (P < 0.05) in DM+LA rats than in DM rats 5 weeks after induction of diabetes. DM rats had the highest and control rats the lowest blood glucose levels at every measurement point up to 111 days (P < 0.05).Conclusion
LA treatment delayed development and progression of cataract in rats with streptozotocin-induced diabetes.?Jpn J Ophthalmol 2007;51:10–13 © Japanese Ophthalmological Society 200711.
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Purpose
To determine the comparability of test results obtained using two versions of commercially available frequency doubling technology (FDT) software for visual field testing.Methods
One hundred glaucoma patients underwent duplicate N-30 threshold FDT visual field examinations of one eye; one test was performed with the recently released software version 3.0 and the other test with the earlier version 2.6. Results were compared in terms of test duration, mean deviation (MD), pointwise sensitivity, pointwise deviations from the age-normal threshold, and average sensitivity.Results
Results obtained with version 3.0 differed significantly from those obtained with version 2.6. Version 3.0 tests took on average 14.2% less time (P < 0.0001), and the average MD was 0.53?dB more negative (P < 0.01). Version 3.0 threshold estimates derived from a mixed-model analysis were significantly lower at 15 of 19 test points (P = 0.0074). At 14 of the 19 test point locations, the mixed-model analysis also showed that threshold measurements were more frequently outside the normal range with version 3.0 (P = 0.022).Conclusions
We found statistically significant differences between results obtained using FDT versions 3.0 and 2.6, which might affect clinical management. New age-corrected normal values for version 3.0 should be obtained and made available to users, and new baseline field data should be established whenever a patient is switched from version 2.6 to version 3.0.?Jpn J Ophthalmol 2007;51:448–452 © Japanese Ophthalmological Society 200714.
Purpose
To investigate the long-term clinical course of acute primary angle closure (APAC) and acute primary angle-closure glaucoma (APACG) in Japanese patients.Methods
We retrospectively reviewed our records of 66 consecutive APAC or APACG eyes observed between February 1992 and December 2003 (mean follow-up, 42.1 months). Immediately after the diagnosis, all patients had received similar medications to halt the acute attack. Subsequently, laser iridotomy or surgical peripheral iridectomy and/or laser iridoplasty were conducted. If intraocular pressure (IOP) control was poor under maximum tolerable ocular hypotensive agents, trabeculectomy with adjunctive mitomycin C (MMC) was undertaken.Results
After laser therapy, the probability of success, defined as an IOP of <21?mmHg with or without medications, was 81.2% ± 6.2%. In the ten eyes that were trabeculectomized, the probability of success based on the same criterion was 40.0% ± 29.7%. Multivariate analysis revealed that the degree of synechial angle closure (P = 0.029) and the preexistence of chronic glaucomatous optic neuropathy (P = 0.015) significantly influenced the need for subsequent filtering surgery.Conclusions
Without the intervention of filtering surgery, 84.6% of eyes with APAC or APACG maintained IOP control with or without antiglaucoma medications. However, APAC and APACG eyes that eventually received trabeculectomy were predisposed to an uncontrollable IOP, even with the intraoperative application of MMC. The severity of APAC or APACG in Japanese may be affected by an underlying creeping angle closure.?Jpn J Ophthalmol 2007;51:353–359 © Japanese Ophthalmological Society 200715.
Chong Chen Qiao Sun Mingmin Gu Kun Liu Yong Sun Xun Xu 《Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie》2015,253(6):915-924
Background
To unravel the molecular genetic background responsible for autosomal dominant congenital pulverulent nuclear cataracts in a four-generation Chinese family.Methods
Family history data were collected, ophthalmological examinations were performed, and genomic DNA was extracted from peripheral blood of the family members. The candidate genes were captured and sequenced by targeted next-generation sequencing, and the results were confirmed by Sanger sequencing. The structure modelling of the protein was displayed based on Swiss-Model Server, and its possible changes in the secondary structure were predicted using Antheprot 2000 software. The chemical dissimilarity and possible functional impact of an amino acid substitution were performed with Grantham score, PolyPhen-2, and SIFT predictions. Protein distributions were assessed by confocal microscopy.Results
A novel heterozygous c.829C?>?T transition that led to the substitution of a highly conserved histidine by tyrosine at codon 277 (p.H277Y) in the coding region of connexin50 (Cx50, GJA8) was identified. Bioinformatics analysis showed that the mutation likely altered the secondary structure of the protein by replacing the helix of the COOH-terminal portion with a turn. The mutation was predicted to be moderately conservative by Grantham score and to be deleterious by both PolyPhen-2 and SIFT with consistent results. In addition, when expressed in COS1 cells, the mutation led to protein accumulation and caused changes in Cx?50 protein localization pattern.Conclusions
This is a novel missense mutation [c.829C?>?T, (p.H277Y)] identified in exon 2 of Cx50. Our findings expand the spectrum of Cx50 mutations that are associated with autosomal dominant congenital pulverulent nuclear cataract.16.
Purpose
To review the surgical results and complications of trabeculectomy techniques in patients with advanced glaucoma and threatened fixation.Methods
Trabeculectomy had been carried out on 49 advanced glaucoma patients (49 eyes) using mitomycin C and postoperative laser suture lysis. The clinical records prior to and 2 months after surgery were reviewed, and the long-term surgical outcomes were determined.Results
Two months after surgery there were no eyes with fixation loss. Intraocular pressure (IOP) levels were reduced from 22.8 ± 6.0 to 11.7 ± 4.7?mmHg. Kaplan-Meier survival analysis showed that the success rate in achieving IOPs of 15?mmHg or lower 5 years after surgery was 70%. The chance of visual acuity remaining within two lines of the preoperative level was 75%. In 29 of the 49 eyes, visual acuities remained at their preoperative level at the time of the final visit, but had decreased to less than 0.1 in three eyes (cataract progression, n = 2; fixation loss, n = 1).Conclusion
The results suggest that laser suture lysis and stepwise management of IOP levels, which are performed as part of the modern postoperative management of trabeculectomy, decrease the frequency of fixation loss during the early postsurgical phase.?Jpn J Ophthalmol 2007;51:116–120 © Japanese Ophthalmological Society 200717.
Shimonagano Y Makiuchi R Miyazaki M Doi N Uemura A Sakamoto T 《Japanese journal of ophthalmology》2007,51(3):204-209
Purpose
To report results of an investigation of visual acuity (VA) and foveal thickness in diabetic macular edema (DME) patients after vitrectomy.Methods
A retrospective study was performed of the records of 47 patients (61 eyes) who received pars plana vitrectomy (PPV) for DME. All eyes were followed up for over 6 months (mean, 24.8 months; range, 6–60 months). VA and foveal thickness evaluated by optical coherence tomography were reviewed preoperatively and postoperatively.Results
Twenty-four-month follow-up data were available for 46 of the 61 eyes (75%). VA at the final examination had improved by 0.2 log units or more in 34 of the 61 eyes (56%), remained unchanged in 21 eyes (34%), and worsened in six eyes (10%). Mean foveal thickness decreased by more than 20% of the preoperative value in 50 of the 61 eyes (82%), remained unchanged in ten eyes (16%), and increased by more than 20% in one eye (2%) at the final examination. Postoperative best-corrected visual acuity (BCVA) at both 12 and 24 months was significantly better than preoperative BCVA (P < 0.0001). Foveal thickness at 3 months or later significantly decreased from the preoperative value (P < 0.0001), but remained unchanged in comparison with postoperative 12 months and 24 months values (P = 0.19). Preoperative VA and presence of cystoid macular edema (CME) were independently associated with final visual acuity (P = 0.001).Conclusions
PPV for DME effectively improved VA and reduced foveal thickness for a longer postoperative period. Better preoperative VA was associated with better final postoperative VA. The eyes without CME tended to have better final postoperative VA.?Jpn J Ophthalmol 2007;51:204–209 © Japanese Ophthalmological Society 200718.
Koriyama M Nishimura T Matsubara T Taomoto M Takahashi K Matsumura M 《Japanese journal of ophthalmology》2007,51(5):360-367
Purpose
To compare the effectiveness of scleral buckling to vitrectomy for the treatment of rhegmatogenous retinal detachment (RRD) due to equatorial retinal tears.Methods
Forty-six patients (46 eyes) ≥50 years of age with RRD due to equatorial retinal tears were studied. One group of 23 patients was selected by the randomized envelope method to be treated by scleral buckling and a second group of 23 to be treated by vitrectomy. The rate of retinal reattachment, the visual acuity, optical coherence tomography findings, and postoperative complications were determined. In addition, a questionnaire was filled out by the patients on their subjective assessment of the surgery and recovery.Results
The rate of retinal reattachment was identical in the two groups. The postoperative visual acuity, the number of patients with visual acuity ≥0.8 and the mean visual acuity were significantly better in the vitrectomy group (χ-squared and Mann-Whitney U tests, P < 0.05) within 12 months after surgery. At 24 and 36 months, the differences in the visual acuity were not significant. The answers to the questionnaire given by the patients in the vitrectomy group suggested that their surgical experiences and visual recovery were better than those of patients in the scleral buckling group.Conclusion
In patients ≥50 years of age, vitrectomy was more effective than scleral buckling for obtaining good visual acuity in the short term.?Jpn J Ophthalmol 2007;51:360–367 © Japanese Ophthalmological Society 200719.
Prakadeeswari Gopalakrishnan Aravind Haripriya Periasamy Sundaresan 《International ophthalmology》2018,38(2):599-606
Purpose
Pseudoexfoliation syndrome (PEX) is a late onset disorder of extracellular matrix turnover, associated systemically with cardiovascular and cerebrovascular disease. To evaluate the suggested association of polymorphisms of homocysteine metabolism genes MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) with PEX.Methods
A case–control association study was undertaken, comprising a total of 1472 individuals including 860 unrelated PEX cases and 612 ethnic-matched cataract controls (CC). All the study subjects were genotyped for three SNPs using the TaqMan allelic discrimination assay. Association and statistical analysis were performed with PLINK 1.07 and STATA 11.1.Results
Among the three SNPs genotyped, MTHFR polymorphisms did not exhibit significant association with PEX (rs1801131; p = 0.549, rs1801133; p = 0.408). The intronic SNP rs8006686 showed nearly significant association (p = 0.069), and however did not remain significant after Bonferroni correction.Conclusion
Our study suggests no significant genetic association of MTHFR (rs1801131, rs1801133) and MTHFD1 (rs8006686) polymorphisms in South Indian PEX patients.20.
Soluble IL-6 Receptor in Vitreous Fluid of Patients with Proliferative Diabetic Retinopathy 总被引：2，自引：0，他引：2
Kawashima M Shoji J Nakajima M Kamura Y Sato Y 《Japanese journal of ophthalmology》2007,51(2):100-104