Interleukin-1ß-31 (rs1143627) genetic variant and the risk of age-related macular degeneration in the Brazilian population.

Background: Age-related macular degeneration (AMD) is a multifactorial disease and one of the main causes of blindness in people over 50 years old. The etiology and pathophysiology of AMD are not well understood. The aim of this study was to investigate whether the rs1143627 variant allele of IL1B, which encodes Interleukin (IL)-1ß, a key cytokine, mediates immune and inflammatory responses.Methods: A case-control study was conducted with 397 AMD patients and 402 controls in Brazil. IL1B genotyping was carried out with TaqMan® genotyping assay. Differences in IL1B allele frequencies and genotypes were evaluated between patients and controls and between wet and dry subgroups of AMD. Relationships between allele presence/genotype and disease risk are reported as odds ratios (ORs) with 95% confidence intervals (CIs).Results: Genotype proportions for the rs1143627 variant allele of IL1B were similar between AMD patients and controls (p = .21), with 84.38% of AMD patients and 79.60% of the controls carrying the variant allele. We observed a trend toward the variant allele being associated with AMD risk (OR = 1.38, 95% CI 0.95-2.03, p = .08), as well as a trend toward the variant allele being associated with increased risk for wet AMD in particular (OR = 1.23, 95% CI 0.96-1.56, p = .08).Conclusions: The rs1443627 variant was not associated with AMD risk in this Brazilian population sample. Larger studies are warranted to determine whether the trends observed in this study reflect a relationship between this variant and risk of AMD, especially wet AMD.

Association of HTRA1 rs11200638 with age-related macular degeneration (AMD) in Brazilian patients.

Age-related macular degeneration is a multifactorial disease that can lead to vision impairment in older individuals. Although the etiology of age-related macular degeneration remains unknown, risk factors include age, ethnicity, smoking, hypertension, obesity, and genetic factors. Two main loci have been identified through genome-wide association studies, on chromosomes 1 and 10. Among the variants located at the 10q26 region, rs11200638, located at the HTRA1 gene promoter, has been associated with age-related macular degeneration in several populations and is considered the main polymorphism. We conducted a replication case-control study to analyze the frequency and participation of rs11200638 in the etiology of age-related macular degeneration in a sample of patients and controls from the State of São Paulo, Brazil, through polymerase chain reaction and enzymatic digestion. The frequency of the A allele was 57.60% in patients with age-related macular degeneration and 36.45% in controls (p value < 1e-07), representing a 2.369-fold higher risk factor for the disease. Both the AA and AG genotypes were observed more frequently in the age-related macular degeneration group compared to the control group (p = 1.21e-07 and 0.0357, respectively). No statistically significant results were observed after stratification in dry versus wet types or advanced versus non-advanced forms. To our knowledge, this is the first time the association between rs11200638 and overall age-related macular degeneration has been reported in South America.

Association of LOC387715/ARMS2 (rs10490924) Gene Polymorphism with Age-Related Macular Degeneration in the Brazilian Population.

BACKGROUND: An association between LOC387715/ARMS2 (rs10490924) gene polymorphism and AMD has been reported. The aim of this study was to evaluate whether this polymorphism is associated with AMD in a Brazilian cohort. MATERIALS AND METHODS: In total, 126 unrelated AMD patients (mean age 74.17 ± 7.64) were compared with 86 healthy controls (mean age 71.82 ± 7.12). Study subjects were classified according to the International ARM Epidemiological Study Group definition for early and late-stage AMD. LOC387715/ARMS2 rs10490924 polymorphism was evaluated through polymerase chain reaction and direct sequencing. RESULTS: The T allele frequency was significantly higher in AMD patients than in controls (39.6% compared to 20.3%). The odds ratio (OR) for AMD was 2.05 (95% CI 1.13-3.71) for heterozygotes (TG) and 8.32 (95% CI 2.30-45.99) for homozygotes (TT). CONCLUSIONS: These results suggest that there is a contribution of the rs10490924 SNP of the LOC387715/ARMS2 gene to AMD susceptibility in this sample of the Brazilian population.

Assessment of the effect of intravitreal triamcinolone acetonide on the chorioretinal and vitreous inflammatory reaction to cryotherapy in rabbits / Avaliação do efeito da injeção intravítrea de triancionolonaacetonida sobre a reação inflamatória coriorretiniana e vítrea à crioterapia em coelhos

PURPOSE: To evaluate the inflammatory response in the choroid, retina and vitreous in rabbit eyes underwent cryotherapy followed by intravitreal triamcinolone acetonide and to compare with those underwent cryotherapy followed by intravitreal injection of saline solution. METHODS: This is a prospective case-control study. Surgical procedures were performed in eleven rabbits. Two animals were excluded because they did not complete the postoperative period or had intraoperative or postoperative complications. All rabbits underwent superior temporal peritomy and transscleralcryotherapy in both eyes. After cryotherapy, animals received intravitreal injection of triamcinolone acetonide in one eye and saline solution in the fellow eye. Animals were sacrificed seven days after the procedure and their eyes were enucleated. Histological sections of eyeballs were prepared and the vitreous humor was aspirated. The count of inflammatory cells was performed by light microscopy. RESULTS: Histological sections of both eyes of nine rabbits were analyzed. Inflammatory cells were found only in the choroid. There was no statistically significant difference in the number of inflammatory cells between the two groups, regardless of cell type analyzed. CONCLUSION: This study showed no statistically significant difference between the use or absence of intravitreal triamcinolone acetonide in the inflammatory response to cryotherapy in rabbit eyes. Studies with larger samples are needed to confirm the trend of this paper.

OBJETIVO: Avaliar a resposta inflamatória em coróide, retina e vítreo nos olhos de coelhos submetidos à crioterapia seguida de injeção intravítrea de triancinolona acetonida e comparar com os olhos de coelhos que foram submetidos à crioterapia seguida de injeção intravítrea de solução salina. MÉTODOS: Trata-se de um estudo prospectivo caso-controle. Foram realizados procedimentos cirúrgicos em 11 coelhos albinos, sendo excluídos os animais que não completaram o pós-operatório ou apresentaram complicações intra ou pós-operatórias. Todos os coelhos foram submetidos à peritomia temporal superior e aplicação de crioterapia transescleral em ambos os olhos. No final de cada procedimento, os animais receberam injeção intravítrea de triancinolona acetonida em um olho e de solução salina no olho contralateral. Após 7 dias de pós-operatório, os animais foram sacrificados e tiveram seus olhos enucleados. O humor vítreo desses olhos foi aspirado, e realizou-se a confecção de cortes histológicos dos globos oculares. Foi feita a contagem das células inflamatórias desses materiais em microscópio óptico. RESULTADOS: Foram analisados cortes histológicos dos olhos de 9 coelhos. Foram encontradas células inflamatórias apenas na coróide em todos os olhos. Não houve diferença estatisticamente significante no número de células inflamatórias entre os dois grupos estudados, independente do tipo celular analisado. CONCLUSÃO: O artigo em questão não demonstrou influência da triancinolona acetonida intravítrea na resposta inflamatória à crioterapia em coelhos. São necessários estudos com amostras maiores para confirmar a tendência deste trabalho.

Incidence of preoperative high blood pressure in cataract surgery among hypertensive and normotensive patients.

UNLABELLED: Incidence of preoperative rise in blood pressure (BP) in cataract surgery among hypertensive and normotensive patients. OBJECTIVE: To study the incidence of preoperative rise in BP in cataract surgery among normotensive individuals and hypertensive patients with historic good BP control in a population without other major chronic diseases. SETTINGS: Ophthalmology Service of a University Hospital. MATERIALS AND METHODS: A prospective study with 822 patients older than 40 years of age, with cataract surgery indication, and without major chronic diseases other than hypertension. The patients were divided in two groups: hypertensive and normotensive. Preoperative data, physical exams and medical adverse events were recorded in an evaluation questionnaire. RESULTS: The sample included 427 normotensive (52%) and 395 hypertensive patients (48%). The two groups had similar proportions of operations that were cancelled and not subsequently rescheduled, 2% (eight patients) in each group. The incidence of preoperative rise in BP was 3.7% in the normotensive group and 10.9% in the hypertensive group (P < 0.001). CONCLUSION: Hypertensive patients with historic good BP control and without other major co-morbidities present a larger incidence of preoperative rise in BP than normotensive individuals in cataract surgery.

Ocular findings in Brazilian identical twins with Cohen syndrome: case report / Achados oftalmológicos em gêmeos idênticos brasileiros com síndrome de Cohen: relato de caso

A case of identical male twins with Cohen syndrome who present multiple ophthalmic findings is reported. The patients were identical 16 year-old twin boys who showed down slanting eyelids, mild ptosis, high-grade myopia, small cortical lens opacities, posterior subcapsular cataracts, myotic and corectopic pupils with poor dilation due to focal iris atrophy and retinochoroidal dystrophy. Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with mental retardation and visual impairment.

Relata-se caso de gêmeos idênticos com síndrome de Cohen que apresentam múltiplos achados oftalmológicos. Os pacientes eram gêmeos idênticos, do sexo masculino, que apresentavam pálpebras em forma de onda, ptose moderada, alta miopia, opacidades cristalinianas corticais discretas, catarata subcapsular posterior, pupilas mióticas e corectópicas com pobre dilatação devido à atrofia focal de íris, além de distrofia retinocoroidiana. Os oftalmologistas devem estar atentos quanto aos achados oftalmológicos e sistêmicos da síndrome de Cohen na avaliação de pacientes jovens com retardo mental e baixa visão.

Ocular findings in Brazilian identical twins with Cohen syndrome: case report.

A case of identical male twins with Cohen syndrome who present multiple ophthalmic findings is reported. The patients were identical 16 year-old twin boys who showed down slanting eyelids, mild ptosis, high-grade myopia, small cortical lens opacities, posterior subcapsular cataracts, myotic and corectopic pupils with poor dilation due to focal iris atrophy and retinochoroidal dystrophy. Ophthalmologists must be aware of the ocular and systemic findings of Cohen syndrome in the evaluation of young patients with mental retardation and visual impairment.