RESUMO
PURPOSE: We assessed the association between complement pathway genes and age-related macular degeneration (AMD) in a Chinese population. METHODS: In a case-control study, 165 AMD patients and 216 unrelated controls were recruited from two hospitals in central China. We selected and genotyped six single nucleotide polymorphisms (SNPs) of four complement pathway genes, including rs800292 and rs1410996 of complement H (CFH), rs9332739 of complement 2 (C2), rs4151667 of complement factor B (CFB), and rs2241394 and rs2230199 of complement 3 (C3). The associations between SNPs and AMD, adjusted by age and sex, were assessed by using logistic regression models and haplotype association analysis. RESULTS: In our study, two SNPs of CFH and their haplotypes were associated significantly with AMD, and the adjusted odd ratios (ORs) were 2.45 (95% confidence interval [CI] 1.25-4.79) for rs800292 (genotype GG versus AA), 2.49 (95% CI 1.24-5.00) for rs1410996 (genotype TT versus CC), and 4.45 (95% CI 2.32-8.55) for haplotype block of rs800292-rs1410996 (haplotype G-C versus A-C), respectively. The haplotype of C2/CFB also was associated significantly with AMD, and the adjusted OR was 8.86 (95% CI 1.88-41.69) for the haplotype block of rs9332739-rs4151667 (haplotype G-A versus G-T), though no relationship was found in genotype association analysis of the two SNPs of C2/CFB. With the sample size of our study, no relationship was found for AMD and the two SNPs of C3. CONCLUSIONS: Gene variants in CFH and C2/CFB contribute to AMD in the Chinese population.
Assuntos
Povo Asiático/genética , Povo Asiático/estatística & dados numéricos , Proteínas do Sistema Complemento/genética , Degeneração Macular/etnologia , Degeneração Macular/genética , Polimorfismo de Nucleotídeo Único/genética , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , China/epidemiologia , Complemento C2/genética , Complemento C2/metabolismo , Complemento C3/genética , Complemento C3/metabolismo , Fator B do Complemento/genética , Fator B do Complemento/metabolismo , Fator H do Complemento/genética , Fator H do Complemento/metabolismo , Proteínas do Sistema Complemento/metabolismo , Feminino , Predisposição Genética para Doença/etnologia , Predisposição Genética para Doença/genética , Haplótipos , Humanos , Degeneração Macular/metabolismo , Masculino , Pessoa de Meia-IdadeRESUMO
OBJECTIVE: To report a case of macular injury caused by prolonged exposure to a flash from the plasma formed at the focus of a femtosecond laser. DESIGN: Interventional case report. PARTICIPANT: A patient with macular injury caused by sustained observation of the plasma flash produced by a femtosecond laser. INTERVENTION: The patient was examined with complete ophthalmologic evaluation (including Amsler grid test, funduscopy, fluorescein angiography, and optical coherence tomography [OCT]) at 3 hours, 1 month, and 6 months after injury. The injured right eye received a retrobulbar injection of 40 mg triamcinolone acetonide (TransTon), at 4 hours and at 10 days after injury, respectively. MAIN OUTCOME MEASURES: Visual acuity, ophthalmoscopic, and OCT findings. RESULTS: Three hours after injury, the best-corrected visual acuity of the right eye was 20/30 with a very small relative scotoma nasal to fixation. Funduscopy disclosed a well-circumscribed, yellow-white spot lesion located immediately temporal to the foveal center. As time passed, the patient's vision returned to 20/20 and the scotoma and retinal abnormalities had become less prominent, but were still present. In the acute stage, OCT showed a hyperreflective lesion involved all foveal retinal layers. At 1 and 6 months of follow-up, OCT revealed abnormal reflectivity located within the outer foveal retina. CONCLUSIONS: Prolonged viewing of a plasma flash induced by a focused femtosecond laser in the air without eye protection may produce persistent damage to the retina. The observed macular injury was probably the result of a combination of thermal and photochemical damage.
Assuntos
Acidentes de Trabalho , Traumatismos Oculares/etiologia , Lasers/efeitos adversos , Retina/lesões , Doenças Retinianas/etiologia , Escotoma/etiologia , Adulto , Traumatismos Oculares/diagnóstico , Traumatismos Oculares/tratamento farmacológico , Angiofluoresceinografia , Glucocorticoides/administração & dosagem , Humanos , Masculino , Oftalmoscopia , Doenças Retinianas/diagnóstico , Doenças Retinianas/tratamento farmacológico , Escotoma/diagnóstico , Escotoma/tratamento farmacológico , Tomografia de Coerência Óptica , Triancinolona Acetonida/administração & dosagem , Acuidade VisualRESUMO
OBJECTIVE: To explore the pathogenic mutation in a Chinese family with congenital aniridia. METHODS: It is a case-control study. All 21 members of the family underwent a comprehensive ophthalmic examination and family line investigation. Mononuclear cell was isolated from peripheral blood and genomic DNA was prepared by genomic DNA purification kit. All fourteen exons of the PAX6 gene were amplified by polymerase chain reaction (PCR) from proband's genomic DNA. PCR products of each exon were analyzed by direct sequencing. RESULTS: A nonsense mutation (Q310X) in exon 11 of PAX6 gene was detected by sequencing analysis in the proband III2. This mutation cause the 301st amino acids codon switch from CAA to TAA and the codogenic amino acids altered from glutamine glutaminic acid to strong terminal codon. This mutation is also detected in all 11 patients of this family, but not present in the unaffected members in this family. CONCLUSION: The premature translation termination of PAX6 gene caused by a nonsense mutation of Q310X should be responsible for congenital aniridia in this Chinese family.
