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1.
Mol Vis ; 25: 843-850, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31908402

RESUMO

Purpose: Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion that predisposes the patient to retinal detachment. It has been suggested that collagen type II alpha 1 (COL2A1) gene variants may contribute to the development of disorders associated with retinal detachment. Here we investigated whether COL2A1 gene variants were associated with the risk of lattice degeneration of the retina. Methods: We recruited 634 Japanese patients with lattice degeneration of the retina and 1694 Japanese healthy controls. We genotyped 13 tagging single-nucleotide polymorphisms (SNPs) in COL2A1. We also performed imputation analysis to evaluate the potential association of un-genotyped COL2A1 SNPs, involving the imputation of 65 SNPs. Results: Two intronic SNPs-rs1793954 and rs1635533-were significantly associated with lattice degeneration of the retina. The SNP rs1793954 showed the strongest association, with its C allele carrying an increased disease risk (p = 0.0016, corrected p = 0.021, OR = 1.25). The rs1793954 and rs1635533 SNPs were in strong linkage disequilibrium with each other (r 2 = 0.99), and conditional analysis revealed that rs1793954 could account for the association between rs1635533 and the disease. Conclusions: Our results suggested that COL2A1 gene variants may contribute to the development of lattice degeneration of the retina. Further genetic and functional analyses of COL2A1 variants are needed to clarify the present findings.


Assuntos
Povo Asiático/genética , Colágeno Tipo II/genética , Predisposição Genética para Doença , Mutação/genética , Degeneração Retiniana/genética , Alelos , Humanos , Japão , Desequilíbrio de Ligação/genética , Polimorfismo de Nucleotídeo Único/genética
2.
PLoS One ; 8(1): e54115, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23349798

RESUMO

Although family studies and genome-wide association studies have shown that genetic factors play a role in glaucoma, it has been difficult to identify the specific genetic variants involved. We tested 669 single nucleotide polymorphisms (SNPs) from the region of chromosome 2 that includes the GLC1B glaucoma locus for association with primary open-angle glaucoma (POAG) and normal tension glaucoma (NTG) in the Japanese population. We performed a two-stage case-control study. The first cohort consisted of 123 POAG cases, 121 NTG cases and 120 controls: the second cohort consisted of 187 POAG cases, 286 NTG cases, and 271 controls. Out of six SNPs showing significant association with POAG in the first round screening, seven SNPs were tested in the second round. Rs678350 in the HK2 gene coding sequence showed significant allelic (p=0.0027 in Stage Two, 2.7XE-4 in meta-analysis) association with POAG, and significant allelic (p=4.7XE-4 in Stage Two, 1.0XE-5 in meta-analysis) association with NTG. Although alleles in the TMEM182 gene did not show significant association with glaucoma in the second round, subjects with the A/A allele in TMEM182 rs869833 showed worse visual field mean deviation (p=0.01). Even though rs2033008 in the NCK2 gene coding sequence did not show significant association in the first round, it had previously shown association with NTG so it was tested for association with NTG in round 2 (p=0.0053 in Stage Two). Immunohistochemistry showed that both HK2 and NCK2 are expressed in the retinal ganglion cell layer. Once multi-testing was taken into account, only HK2 showed significant association with POAG and NTG in Stage Two. Our data also support previous reports of NCK2 association with NTG, and raise questions about what role TMEM182 might play in phenotypic variability. Our data suggest that HK2 may play an important role in NTG in the Japanese population.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Predisposição Genética para Doença/genética , Hexoquinase/genética , Glaucoma de Baixa Tensão/genética , Proteínas Oncogênicas/genética , Polimorfismo de Nucleotídeo Único , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Povo Asiático/genética , Estudos de Casos e Controles , Estudos de Coortes , Feminino , Frequência do Gene , Genótipo , Humanos , Imuno-Histoquímica , Japão , Glaucoma de Baixa Tensão/etnologia , Masculino , Pessoa de Meia-Idade
3.
Am J Ophthalmol ; 154(5): 825-832.e1, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22831837

RESUMO

PURPOSE: To determine whether polymorphisms in the Toll-like receptor 4 (TLR4) gene are associated with primary open-angle glaucoma (POAG), normal-tension glaucoma (NTG), and exfoliation glaucoma (XFG) in Japanese individuals. DESIGN: Genetic association study. SETTING: Multicenter study. STUDY POPULATION: One hundred eighty-four unrelated Japanese patients with POAG, 365 unrelated patients with NTG, and 109 unrelated patients with XFG from 5 hospitals. PROCEDURES: Genomic DNA was extracted from leukocytes of the peripheral blood, and 8 polymorphisms in the TLR4 genes were amplified by polymerase chain reaction (PCR) and directly sequenced. Allele and genotype frequencies and the inferred haplotypes were estimated. MAIN OUTCOME MEASURES: Differences in allele and genotype frequencies and haplotypes between subjects with POAG, NTG, and XFG. RESULTS: The allele frequency of rs2149356 of the TLR4 gene in the POAG, NTG, and XFG groups was the most significantly different from that of the control group (minor allele frequency 0.446, 0.395, 0.404, vs 0.308; P = .000058, P = .0030, and P = .015). The allele frequencies of the 5 TLR4 SNPs were higher in all of the glaucoma groups than that in the control group. The statistics of genotypes of TLR4 were approximately the same for all allele frequencies. The haplotypic frequencies with Tag SNPs studied earlier showed that only POAG was statistically significant. Other haplotypes, such as rs10759930, rs1927914, rs1927911, and rs2149356, had higher statistical significance (overall P = .00078 in POAG, overall P = .018 in NTG, and overall P = .014 in XFG). CONCLUSIONS: This study demonstrated that TLR4 polymorphisms are associated with NTG in the Japanese, and they also play a role in the pathogenesis of POAG and XFG.


Assuntos
Povo Asiático/genética , Síndrome de Exfoliação/genética , Glaucoma de Ângulo Aberto/genética , Glaucoma de Baixa Tensão/genética , Polimorfismo de Nucleotídeo Único , Receptor 4 Toll-Like/genética , Idoso , Análise Mutacional de DNA , Síndrome de Exfoliação/diagnóstico , Feminino , Técnicas de Genotipagem , Glaucoma de Ângulo Aberto/diagnóstico , Haplótipos , Humanos , Pressão Intraocular , Japão/epidemiologia , Glaucoma de Baixa Tensão/diagnóstico , Masculino , Pessoa de Meia-Idade , Mutação , Reação em Cadeia da Polimerase
4.
PLoS One ; 7(6): e39300, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22723992

RESUMO

Lattice degeneration of the retina is a vitreoretinal disorder characterized by a visible fundus lesion predisposing the patient to retinal tears and detachment. The etiology of this degeneration is still uncertain, but it is likely that both genetic and environmental factors play important roles in its development. To identify genetic susceptibility regions for lattice degeneration of the retina, we performed a genome-wide association study (GWAS) using a dense panel of 23,465 microsatellite markers covering the entire human genome. This GWAS in a Japanese cohort (294 patients with lattice degeneration and 294 controls) led to the identification of one microsatellite locus, D2S0276i, in the collagen type IV alpha 4 (COL4A4) gene on chromosome 2q36.3. To validate the significance of this observation, we evaluated the D2S0276i region in the GWAS cohort and in an independent Japanese cohort (280 patients and 314 controls) using D2S0276i and 47 single nucleotide polymorphisms covering the region. The strong associations were observed in D2S0276i and rs7558081 in the COL4A4 gene (Pc = 5.8 × 10(-6), OR = 0.63 and Pc = 1.0 × 10(-5), OR = 0.69 in a total of 574 patients and 608 controls, respectively). Our findings suggest that variants in the COL4A4 gene may contribute to the development of lattice degeneration of the retina.


Assuntos
Colágeno Tipo IV/genética , Predisposição Genética para Doença , Variação Genética , Degeneração Retiniana/genética , Descolamento Retiniano/genética , Alelos , Estudos de Casos e Controles , Regulação da Expressão Gênica , Frequência do Gene , Estudo de Associação Genômica Ampla , Haplótipos , Humanos , Desequilíbrio de Ligação , Repetições de Microssatélites , Polimorfismo de Nucleotídeo Único , Serina Endopeptidases/genética
5.
Clin Ophthalmol ; 6: 175-9, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-22331974

RESUMO

BACKGROUND: Central serous chorioretinopathy (CSC) has been traditionally treated with laser photocoagulation. We thought that transpupillary thermotherapy (TTT) utilizing a lower temperature than that of conventional laser photocoagulation might minimize permanent retinal and choroidal damage. Studies suggest that undesirable effects on vision due to TTT are minimal even if it is applied to foveal and/or parafoveal lesions when TTT requires a larger irradiation spot. The aim of this study was to evaluate the efficacy of TTT in the management of atypical CSC. METHODS: We defined atypical CSC as bullous retinal detachment with diffuse or several leakages, severe leakage with fibrin formation under serous retinal detachment, or leakage within a pigment epithelium detachment. Eight consecutive patients with atypical CSC underwent visual acuity testing, ophthalmic examination, color photography, fluorescein angiography, and optical coherence tomography to evaluate the results of transpupillary thermotherapy. Retreatment of atypical CSC was based on ophthalmic examination, optical coherence tomography, and fluorescein angiography. TTT was performed on the leaking spots shown in fluorescein angiography, with a power of 50-250 mW, spot size of 500-1200 µm, and exposure time of 13-60 seconds to minimize retinal damage. RESULTS: In five of eight affected eyes, serous detachments completely resolved within 1 month after the initial TTT. One eye had persistent subretinal fluid and required a second TTT treatment. Two eyes showed no resolution of CSC and were treated by conventional photocoagulation. Initial best-corrected visual acuity (BCVA) ranged from 20/600 to 20/20 (mean, 20/40; median, 20/30). Final BCVA ranged from 20/200 to 20/20 (mean, 20/25; median, 20/20). BCVA improved in all cases. Only two eyes with persistent subretinal fibrin and existing retinal pigment epithelial alternations in macular area showed limited improvement of BCVA despite the absence of subretinal exudation. The presence of retinal attachment was confirmed by optical coherence tomography in six eyes (75%). CONCLUSIONS: TTT seems to be effective for the treatment of atypical CSC in the short term. Additional studies are necessary to evaluate the long-term effectiveness and safety.

6.
Doc Ophthalmol ; 123(2): 127-33, 2011 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-21922265

RESUMO

The purpose of this study was to report a patient with Oguchi disease whose ophthalmological characteristics were masked by retinitis pigmentosa (RP). The method used in this study was case report. A 53-year-old man had a progressive decrease in his visual acuity and was diagnosed with RP because of night blindness, fundoscopic findings, ring scotoma, and extinguished single-flash electroretinograms (ERGs). However, a faint golden-yellowish reflex of the retina prompted us to make a more detailed examination of the fundus after a long period of dark adaptation, ERGs, and genetic analysis. Examinations showed the Mizuo-Nakamura phenomenon, relative intact photopic ERGs, and a SAG mutation, and the patient was diagnosed with RP associated with Oguchi disease. When RP accompanies Oguchi disease, the clinical characteristics of Oguchi disease might be masked. In such a situation, the correct diagnosis is difficult. However, careful analysis of clinical findings will suggest Oguchi disease, which can be confirmed by molecular genetics.


Assuntos
Arrestina , DNA , Adaptação à Escuridão/fisiologia , Receptor Quinase 1 Acoplada a Proteína G , Cegueira Noturna/diagnóstico , Mutação Puntual , Retinose Pigmentar/diagnóstico , Arrestina/genética , Arrestina/metabolismo , DNA/genética , Diagnóstico Diferencial , Eletrorretinografia , Oftalmopatias Hereditárias , Angiofluoresceinografia , Fundo de Olho , Receptor Quinase 1 Acoplada a Proteína G/genética , Receptor Quinase 1 Acoplada a Proteína G/metabolismo , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Cegueira Noturna/complicações , Cegueira Noturna/genética , Linhagem , Reação em Cadeia da Polimerase , Retina/metabolismo , Retina/patologia , Retina/fisiopatologia , Retinose Pigmentar/complicações , Retinose Pigmentar/genética , Tomografia de Coerência Óptica , Campos Visuais
7.
Cornea ; 29(6): 683-5, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-20458221

RESUMO

PURPOSE: To report the detection of cytomegalovirus (CMV) DNA in the cornea of a CMV endotheliitis patient after penetrating keratoplasty (PKP). CASE: A 71-year-old man without immunodeficiency developed corneal endotheliitis in the right eye. The patient had previously received PKP several times. Polymerase chain reaction (PCR) detected CMV-DNA in the aqueous humor in his affected eye, and we started administration of ganciclovir. There was resolution of the inflammation; however, bullous keratopathy was subsequently noted in the cornea. Additional PKP was performed with perioperative intravenous administration of ganciclovir. The failed graft obtained during the additional PKP was subjected to PCR analysis and histopathological examination. PCR analysis showed CMV-DNA in the failed graft. Little inflammatory change was noted in either the epithelial or stromal layers of the failed graft. With continued ganciclovir treatment, the graft remained clear and no recurrence or rejection occurred until 12 months after the last PKP. CONCLUSION: Our PCR analysis showed the presence of CMV-DNA within the cornea of the patient with corneal endotheliitis.


Assuntos
Doenças da Córnea/virologia , Infecções por Citomegalovirus/virologia , Citomegalovirus/genética , DNA Viral/análise , Endotélio Corneano/virologia , Infecções Oculares Virais/virologia , Ceratoplastia Penetrante/efeitos adversos , Idoso , Antivirais/uso terapêutico , Doenças da Córnea/diagnóstico , Doenças da Córnea/tratamento farmacológico , Infecções por Citomegalovirus/diagnóstico , Infecções por Citomegalovirus/tratamento farmacológico , Infecções Oculares Virais/diagnóstico , Infecções Oculares Virais/tratamento farmacológico , Ganciclovir/uso terapêutico , Humanos , Masculino , Reação em Cadeia da Polimerase
8.
Nippon Ganka Gakkai Zasshi ; 113(10): 972-9, 2009 Oct.
Artigo em Japonês | MEDLINE | ID: mdl-19882933

RESUMO

BACKGROUND: Anticardiolipin antibodies in the autoimmune mechanism can cause vasculitis, leading to hypercoagulability-related thrombosis. We report a case of retinal vein occlusion followed by ischemic optic neuropathy in a young woman with anticardiolipin IgG antibody. CASE: A 17-year-old woman with dilatation and tortuosity of the retinal veins and retinal hemorrhage in the superior quadrant of the retina OS. Fluorescein retinal angiography showed a delay of filling time in the upper quadrant of the retina and a 3mm-continuous stain along the superior retinal vein. Laboratory tests were repeatedly positive for anticardiolipin IgG antibodies. Although the retinal hemorrhage disappeared 2 months after subtennon injection of 20 mg triamcinolone acetonide (TA), ischemic optic neuropathy occurred 9 months later. CONCLUSIONS: The staining of the vessel wall and the effectiveness of TA suggest that vasculitis may be associated with the pathology of this condition. The presence of anticardiolipin IgG antibodies suggests that autoimmune mechanism is involved in the vasculitis.


Assuntos
Autoanticorpos/sangue , Cardiolipinas/imunologia , Imunoglobulina G/imunologia , Neuropatia Óptica Isquêmica/etiologia , Oclusão da Veia Retiniana/complicações , Adolescente , Feminino , Humanos , Neuropatia Óptica Isquêmica/imunologia , Oclusão da Veia Retiniana/imunologia
9.
Clin Ophthalmol ; 3: 231-4, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19668571

RESUMO

The paper reports on Candida albicans ocular infection modified by steroid eye drops. A 74-year-old male complained of conjunctival injection and pain in his right eye three months after pterygium and cataract surgery. After treatment with antibiotics and steroid eye drops for three days, he was referred to our hospital. Clear localized corneal endothelial plaque with injection of ciliary body was observed. No erosion of the corneal epithelium, or infiltration of stromal edema was observed, suggesting that the pathological organism derived from the intracameral region. Because ocular infection was suspected, steroid eye drops were stopped, which led immediately to typical infectious keratitis in the pathological region, with epithelial erosion, fluffy abscess, stromal infiltration, and edema. For diagnostic purposes, the plaque was surgically removed with forceps and the anterior chamber was irrigated with antibiotics. The smear and culture examination from the plaque revealed C. albicans surrounded by neutrophils. However, aqueous fluid and fibrous tissue after gonio procedure contained no mycotic organisms. Topical fluconazole, micafungin, and pimaricin with oral itraconazole (150 mg/day) were effective. Special attention is needed when prescribing steroid eye drops to treat corneal disease especially postoperatively. Diagnosing infectious keratitis is sometimes difficult because of modification by some factors, such as postoperative conditions, scarring, and drug-induced masking. Here, we report on mycotic keratitis modified by postoperative steroid administration.

10.
Am J Ophthalmol ; 147(1): 116-20, 2009 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18834581

RESUMO

PURPOSE: To investigate the effects of peripheral retinal cryotherapy on accommodative amplitude in patients with retinal lattice degeneration. DESIGN: Prospective, observational case series. METHODS: We studied 92 eyes in 69 patients (age range, 13 to 79 years) treated with cryotherapy for lattice degeneration between December 2001 and September 2004. Pretreatment and posttreatment accommodative amplitudes were measured. Acute accommodative loss was calculated from the difference between accommodative amplitudes before treatment and one week after treatment. We investigated the time course of accommodative amplitudes, acute accommodative loss in different age groups and in pretreatment accommodative amplitude groups, the influence of cryotherapy numbers on accommodative amplitude, and the influence of cryotherapy sites on accommodative amplitude. RESULTS: No significant difference was noted between pretreatment and posttreatment accommodative amplitudes in the overall subject cohort. Dividing subjects by age revealed significant decreases in accommodative amplitude only among patients in their 10s and 20s at one and three weeks after treatment. Accommodative amplitude was lowest among those in their 10s, followed by that among those in their 20s (P < .01). Accommodative amplitudes recovered to pretreatment level by six weeks. Acute accommodative loss was greatest in those in their 10s compared with other age groups (P < .01). A significant correlation was observed between acute accommodative loss and cryotherapy numbers (P = .03; r = 0.41). CONCLUSIONS: The decrease in accommodative amplitude was greatest at one week after treatment and recovered to pretreatment levels after six weeks. Accommodative amplitude showed the greatest decrease after cryotherapy among patients in their 10s and 20s. A decrease in accommodative amplitude was observed with increased numbers of cryotherapy spots administered.


Assuntos
Acomodação Ocular/fisiologia , Criocirurgia , Degeneração Retiniana/fisiopatologia , Degeneração Retiniana/cirurgia , Adolescente , Adulto , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Oftalmoscopia , Estudos Prospectivos , Adulto Jovem
11.
Clin Ophthalmol ; 2(3): 675-8, 2008 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-19668774

RESUMO

Clinical findings and treatment of keratomycosis caused by Beauveria bassiana, an entomopathogenic filamentous fungus, are described for an 80-year-old woman, who was referred to the hospital for ocular pain and redness on the 9th day after an ocular injury caused by the frame of her glasses. She had a long history of recurrent diabetic iritis and continuously used topical antibiotics and corticosteroids. At her first visit, a slit-lamp examination indicated a corneal ulcer confined within the superficial stromal layer, along with a slight infiltration and edema. Only a very few inflammatory cells were seen in the anterior chamber. Direct microscopic examination of corneal scrapings revealed septate fungal hyphae with zig-zag rachis and budding that was subsequently identified as B. bassiana by slide culture. Topical voriconazole with miconazole, pimaricin and oral itraconazole were effective and the lesion disappeared leaving only a mild scar at 2 months. The sensitivity of B. bassiana to various antimycotic agents was confirmed by broth microdilution, agar dilution with the Clinical Laboratory Standard Institute standard, and a disk method using topically applied concentrations. B. bassiana, which exhibits a characteristic appearance in smears and causes superficial keratomycosis, is sensitive to voriconazole with miconazole, pimaricin, and itraconazole.

12.
Mol Vis ; 11: 431-7, 2005 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-15988412

RESUMO

PURPOSE: Endothelin 1 (ET-1), a potent vasoconstrictor, may affect regulation of intraocular pressure and ocular vessel tone. Thus, ET-1 and its receptors may contribute to development of glaucoma. We investigated whether gene polymorphisms of ET-1 (EDN1) and its receptors ETA (EDNRA) and ETB (EDNRB) were associated with glaucoma phenotypes and clinical features. METHODS: We studied 224 normal Japanese controls and 426 open angle glaucoma (OAG) patients including 176 with primary open angle glaucoma (POAG) and 250 with normal tension glaucoma (NTG). Nine single nucleotide polymorphisms were detected among the participants using the Invader assay; four for EDN1 (T-1370G, +138/ex1 del/ins, G8002A, K198N), four for EDNRA (G-231A, H323H, C+70G, C+1222T), and one for EDNRB (L277L). Genotype distributions were compared between normal controls and OAG. Age at diagnosis, untreated maximum intraocular pressure (IOP), and visual field defects at diagnosis were examined for association with polymorphisms. RESULTS: Of the 9 polymorphisms, genotype distributions showed no significant differences between OAG patients and controls adjusted by age. The GG genotype of EDNRA/C+70G was associated with worse visual field defects in NTG patients (p=0.014; Mann-Whitney U test, and p=0.027; logistic regression analysis). CONCLUSIONS: The polymorphism of EDNRA/C+70G may be related to NTG risk factors.


Assuntos
Endotelina-1/genética , Glaucoma de Ângulo Aberto/genética , Receptor de Endotelina A/genética , Idoso , Feminino , Genótipo , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Polimorfismo Genético , Receptor de Endotelina B/genética , Fatores de Risco , Transtornos da Visão/fisiopatologia , Campos Visuais
13.
Invest Ophthalmol Vis Sci ; 45(12): 4359-67, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15557444

RESUMO

PURPOSE: To investigate sequence variations in the optineurin (OPTN) gene and their association with TNF-alpha polymorphisms in Japanese patients with glaucoma. METHODS: The OPTN gene was analyzed in blood samples from 629 Japanese subjects. There were 194 patients with primary open-angle glaucoma (POAG), 217 with normal-tension glaucoma (NTG), and 218 with no eye disease (control subjects). The gene was screened for mutations by denaturing high-performance liquid chromatography. Genotyping of three polymorphisms of -308G-->A, -857C-->T, and -863C-->A in the TNF-alpha promoter region was performed. The associations between the genotypes and age, intraocular pressure (IOP), and visual field defects at the time of diagnosis were examined. RESULTS: A possible glaucoma-causing mutation, His26Asp, was identified in 1 of the 411 Japanese patients with glaucoma. A c.412G-->A (Thr34Thr) polymorphism in the OPTN gene was significantly associated with POAG (genotype frequency, P = 0.011; allele frequency, P = 0.003). The frequency of TNF-alpha/-857T and optineurin/412A carriers was significantly higher (P = 0.006) in patients with POAG than in control subjects. Among the patients with POAG who were carriers of TNF-alpha/-857T, the optineurin/412A carriers had significantly worse (P = 0.020) visual field scores than the non-optineurin/412A ones. The frequency of TNF-alpha/-863A and optineurin/603A (or Lys98) carriers was significantly higher in patients with POAG (P = 0.008) or NTG (P = 0.027) than in control subjects. Among the patients with POAG who were carriers of TNF-alpha/-863A, the ones with optineurin/603A (or Lys98) had significantly worse (P = 0.026) visual field scores than did those with non-optineurin/603A (or Lys98). CONCLUSIONS: These findings demonstrated that the OPTN gene is associated with POAG rather than NTG in the Japanese. Statistical analysis showed a possible interaction between polymorphisms in the OPTN and the TNF-alpha genes that would increase the risk for glaucoma.


Assuntos
Povo Asiático/genética , Variação Genética , Glaucoma de Ângulo Aberto/genética , Pressão Intraocular , Polimorfismo Genético , Fator de Transcrição TFIIIA/genética , Fator de Necrose Tumoral alfa/genética , Adulto , Envelhecimento , Alelos , Ácido Aspártico , Proteínas de Ciclo Celular , Cromatografia Líquida de Alta Pressão , Feminino , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Glaucoma de Ângulo Aberto/fisiopatologia , Heterozigoto , Histidina , Humanos , Masculino , Proteínas de Membrana Transportadoras , Pessoa de Meia-Idade , Mutação , Treonina , Campos Visuais
14.
J Glaucoma ; 13(6): 466-71, 2004 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-15534471

RESUMO

PURPOSE: To screen for mutations in the MYOC gene in Japanese patients with primary open-angle glaucoma (POAG) using denaturing high-performance liquid chromatography (DHPLC). PATIENTS AND METHODS: Blood samples were collected from 171 patients with POAG and 100 controls from seven institutions in Japan. For high-throughput analysis, seven exonic regions were amplified by polymerase chain reaction using DNA pooled from three patients; each DNA pool was then analyzed chromatographically. For analysis of a small number of samples, 7 exonic regions were amplified separately but simultaneously with annealing at 58 degrees C in each patient and then chromatographed, using 7 wells of the same 96-well plate per sample. When chromatographic patterns were abnormal by either method, the PCR products of the individual samples were sequenced. RESULTS: Four glaucoma-causing mutations were identified in five POAG patients (2.9%). One missense mutation, Phe369Leu, is new; and three others, Ile360Asn, Ala363Thr, and Thr448Pro, have been reported in Japanese patients. Phe369Leu was associated with adult onset POAG. CONCLUSIONS: Mutations in the MYOC gene were demonstrated chromatographically in 2.9% of our Japanese POAG patients. The use of pooled DNAs with DHPLC analysis is a time- and labor-saving technique. All mutations detected appear to be specific to Japanese patients.


Assuntos
Povo Asiático/genética , Glaucoma de Ângulo Aberto/genética , Mutação de Sentido Incorreto , Adulto , Idoso , Idoso de 80 Anos ou mais , Sequência de Aminoácidos , Sequência de Bases , Cromatografia Líquida de Alta Pressão/métodos , Proteínas do Citoesqueleto , DNA , Proteínas do Olho/genética , Testes Genéticos , Glaucoma de Ângulo Aberto/patologia , Glaucoma de Ângulo Aberto/fisiopatologia , Glicoproteínas/genética , Humanos , Leucina , Pessoa de Meia-Idade , Disco Óptico/patologia , Fenilalanina , Reação em Cadeia da Polimerase/métodos , Campos Visuais
15.
Am J Ophthalmol ; 137(5): 936-8, 2004 May.
Artigo em Inglês | MEDLINE | ID: mdl-15126163

RESUMO

PURPOSE: To report a method of retinal protection using a viscoadaptive viscoelastic agent during removal of a luxated crystalline lens by intravitreal phacoemulsification. DESIGN: Interventional case report. METHODS: A 65-year-old man presented with a totally luxated crystalline lens in the vitreous cavity of the left eye. After total vitrectomy was performed, a viscoadaptive viscoelastic agent was applied over the retina and optic disk. Then the luxated lens was removed by intravitreal phacoemulsification. The lens dropped several times during the surgery but the thick viscoadaptive viscoelastic agent protected the posterior retina. RESULTS: In two cases treated this way, no complications occurred at six months after surgery. CONCLUSION: This method may be useful for protecting the retina from damage by a luxated crystalline lens and is less costly than perfluorocarbon liquid.


Assuntos
Traumatismos Oculares/prevenção & controle , Ácido Hialurônico/uso terapêutico , Complicações Intraoperatórias/prevenção & controle , Subluxação do Cristalino/cirurgia , Facoemulsificação/métodos , Retina/lesões , Idoso , Humanos , Masculino , Vitrectomia
16.
Retina ; 23(5): 629-35, 2003 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-14574246

RESUMO

PURPOSE: To examine the effects of scleral buckling on the eye growth of children after retinal detachment repair according to the degree of refractive change. METHODS: Thirty-five eyes of 35 patients (mean age, 11.5 years; range, 7-15 years) were treated using a silicone implant scleral buckling procedure. Postoperative refractive change in the treated eyes was analyzed statistically, with the fellow eyes used as controls. The effects of age at the time of surgery, length of the silicone tire, postoperative visual acuity, and postoperative refraction were also examined. RESULTS: The mean refractive change in treated eyes from 1 to 4 years after the procedure was -0.6 diopter (D), whereas the mean change in fellow eyes was -1.3 D. The treated eyes became less myopic than the fellow eyes (P=0.024), particularly in patients younger than 10 years (-0.1 D versus -1.6 D, respectively; P=0.003) or when the scleral buckle extended beyond two quadrants (-0.4 D versus -1.3 D, respectively; P=0.020). CONCLUSIONS: Scleral buckling resulted in significantly less myopia, particularly in younger patients and in those receiving longer buckling tires. This finding suggests that scleral buckling in children might impede ocular growth.


Assuntos
Erros de Refração/fisiopatologia , Descolamento Retiniano/fisiopatologia , Descolamento Retiniano/cirurgia , Recurvamento da Esclera , Adolescente , Criança , Olho/crescimento & desenvolvimento , Feminino , Humanos , Masculino , Fenômenos Fisiológicos Oculares , Refração Ocular/fisiologia
17.
J Cataract Refract Surg ; 29(12): 2458-60, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14709315

RESUMO

We describe suturing an intraocular lens (IOL) after pars plana lensectomy and vitrectomy combined with gas tamponade in 4 patients with vitreoretinal disease and subluxated lenses that could not be managed with capsular tension rings. The IOL haptics were sutured before the fluid-gas exchange in a horizontal (case 1), oblique (cases 2 and 4), and vertical (case 3) manner. In a case of unavoidable horizontal fixation due to limited scleral space, the upper part of the IOL tilted anteriorly postoperatively because of the enhanced effect of the gas bubble. A peripheral anterior iris synechia also occurred. The IOL remained well positioned in cases with oblique and vertical fixations, and no other complications occurred. Careful preoperative planning of the surgical design can help avoid unnecessary horizontal fixation.


Assuntos
Implante de Lente Intraocular/métodos , Lentes Intraoculares , Hexafluoreto de Enxofre/uso terapêutico , Técnicas de Sutura , Vitrectomia , Adulto , Idoso , Feminino , Humanos , Subluxação do Cristalino/cirurgia , Masculino , Doenças Retinianas/cirurgia
18.
Ophthalmology ; 109(6): 1118-22, 2002 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-12045053

RESUMO

OBJECTIVE: To describe a technique for suturing a luxated intraocular lens (IOL) in the vitreous cavity to the ciliary sulcus using intraocular cow hitch (girth) knots without IOL extraction. DESIGN: Non-comparative interventional case series. PARTICIPANTS: Five patients with a luxated IOL in the vitreous cavity. INTERVENTION: All patients underwent surgery to fixate the IOL using this technique. METHODS: A three-port vitrectomy was performed in all five cases. A needle with looped 10-0 polypropylene was introduced into the vitreous cavity through a sclerotomy incision, and only the needle was passed out of the eye, guided by a bent 27-gauge needle from the 3-o'clock position 1.5 mm from the limbus. A cow hitch (girth) knot at the end of the loop was made outside the globe, grasped with a straight intravitreal forceps, and introduced into the vitreous cavity. Hooking the cow hitch (girth) knot around the haptics of the IOL in the vitreous cavity, the 10-0 polypropylene was pulled so that the IOL haptic was fixated onto the sulcus. After the opposite haptic was brought into the anterior chamber, the 10-0 polypropylene was looped around the haptics of the IOL and manipulated with a push-and-pull hook in the anterior chamber through the two corneal side ports to make a cow hitch (girth) knot outside the anterior chamber. By pulling up the suture, the knot was brought back and tied in the anterior chamber. It was then fixated to the ciliary sulcus at the 9-o'clock position. MAIN OUTCOME MEASURES: Patients were evaluated for visual acuity, refraction, and surgical complications associated with the procedure. RESULTS: In all five cases, the IOL fixated stably and remained well positioned. No significant intraoperative or postoperative complications occurred. CONCLUSIONS: This technique enables secure fixation of the luxated IOL in the vitreous without extracting it.


Assuntos
Migração de Corpo Estranho/cirurgia , Lentes Intraoculares , Polipropilenos , Técnicas de Sutura , Suturas , Idoso , Feminino , Humanos , Complicações Intraoperatórias , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias , Falha de Prótese , Refração Ocular , Reoperação , Resultado do Tratamento , Acuidade Visual , Corpo Vítreo/cirurgia
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