Flavio Mac Cord Medina

Purtscher-like retinopathy associated with acute pancreatitis

CONTEXT Purtscher-like retinopathy with bilateral loss of vision is a rare and severe complication that may follow acute pancreatitis. CASE REPORT The case of a 35-year-old patient with acute alcoholic pancreatitis who developed sudden loss of visual acuity is described. The ophthalmoscopic examination revealed diffuse retinal whitening of the posterior pole with confluent cotton-wool spots. Fluorescein angiogram showed retinal arteriolar occlusion. The findings were compatible with Purtscher-like retinopathy. Computed tomography of the abdomen demonstrated enlarged liver and pancreas with edema and inflammation. The pathogenesis of this form of retinopathy still remains uncertain and there is no specific treatment available.

Intralenticular metal foreign body: case report

Intralenticular foreign bodies comprise about 5% to 10% of all intraocular foreign bodies and can result in serious complications. The management depends on some factors like size, location, material type and the risk of infection. We present a patient with an intralenticular metal foreign body in the left eye that, following initial treatment with topical steroid and antibiotic, underwent lens aspiration with removal of the intralenticular foreign body and insertion of a posterior chamber intraocular lens with good visual outcome.

Reproducibility of water drinking test performed at different times of the day

PURPOSE To evaluate the reproducibility of water drinking test (WDT) performed at different times of the day, in primary open angle glaucoma (POAG) patients and normal individuals. METHODS Fifteen patients with POAG and 30 normal individuals underwent three WDTs at different times of the day (7 AM, 12 PM, and 5 PM) on 3 different days. Test results in POAG patients and normal individuals were compared. Agreement and correlation of intraocular pressure (IOP) baseline levels, peak levels, and IOP change (peak IOP--baseline IOP) on tests performed at different times were evaluated. Only right eye measurements were analyzed. RESULTS Mean baseline IOP, peak IOP and IOP change were significantly higher in POAG patients than in normal individuals, at all time intervals (p<0.05). The Bland-Altman analysis demonstrated limits of agreement for IOP peak levels and IOP changes larger than the clinically acceptable (>3 mmHg), even though Pearsons test revealed good correlation among the results. CONCLUSION The mean IOP peak and mean IOP change observed during WDT are significantly higher in POAG patients than in control individuals. Low levels of agreement among WDTs performed at different times of the day suggest a poor reproducibility of WDT, which may limit its applicability for the diagnosis and follow-up of glaucoma.

Central retinal artery occlusion associated with traumatic carotid cavernous fistula: case report

Carotid cavernous fistulas are a rare entity occurring as result of head trauma and also spontaneously. The authors report a rare case of central retinal artery occlusion complicating traumatic carotid-cavernous fistula, resulting in severe visual acuity loss. Spontaneous closure of the fistula was observed. The possible mechanisms responsible for this complication are discussed.

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

Abstract 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.

Association of the CFH Y402H Polymorphism with the 1-Year Response of Exudative AMD to Intravitreal Anti-VEGF Treatment in the Brazilian Population

Aim: Evidence of the relationship between the polymorphism of the complement factor H (CFH) gene at position 402 (Y402H) and the response to the treatment of wet AMD is controversial. The aim of this study was to compare the functional and morphological 1-year evolution of patients with exudative AMD treated with antivascular endothelial growth factor (VEGF) drugs with the CFH Y402H polymorphism in the Brazilian population. Methods: Forty-six patients treated for wet AMD with bevacizumab or ranibizumab in a pro re nata regimen were included. The evolution of best-corrected visual acuity (BCVA) and central retinal thickness (CRT), and the number of injections over 1 year of follow-up were correlated with CFH genotypes. Results: The analysis of variance for the difference between the BCVA denoted as logMAR (logarithm of the minimum angle of resolution) values showed an improvement at 1 year when compared to baseline (p = 0.039). Profile contrast analysis showed that this difference was significant only in the group without the C allele (p = 0.049), without significance in patients presenting with the risk allele (p = 0.241). CRT showed a mean reduction at 1 year compared to baseline (p < 0.001). Significant differences in the profile contrast test were found in the group without the C allele (p < 0.001) and in patients with the risk allele (p = 0.002). No difference was found in the number of injections among the different groups (p = 0.787). Conclusions: The presence of the risk allele of the Y402H polymorphism in the CFH gene was related to a less favorable evolution over 1 year in this sample of the Brazilian population with exudative AMD who were being treated with anti-VEGF drugs. In agreement with similar previous studies, this study concludes that the CFH risk genotypes may affect the disease response to treatment.

Percepção dos usuários, profissionais de saúde e gestores sobre o modelo de atendimento oftalmológico no Hospital Regional de Divinolândia - São Paulo

PURPOSE This study aimed to evaluate the assistance quality through the perception of the users and municipal health managers (mayors, health secretaries and screening team). METHODS A transversal and descriptive study was carried out. RESULTS The sample was comprised by 359 users and 48 managers. Medical assistance was considered excellent by 79.6% of the users, 93.7% of the managers, 87.5% of the health secretaries and 100% of the screening team. Reception received a great evaluation by 73.8% of the users and 93.8% of the selectors. CONCLUSION The assistance model used at the Ophthalmologic Clinic of Divinolândia obtained a high level of satisfaction pleasing both users and managers.

Blindness after cosmetic blepharoplasty: case report

Blepharoplasty is one of the most commonly performed surgeries for rejuvenation of the periorbital region. We present a case of unilateral permanent visual loss following a bilateral lower lid cosmetic blepharoplasty with fat removal. The etiology of retrobulbar hemorrhage following blepharoplasty, treatment, and recommendations to reduce the chance of this rare but serious complication are discussed.

Evaluation of CFH Y402H polymorphism and CFHR3/CFHR1 deletion in age-related macular degeneration patients from Brazil

Age-related macular degeneration (AMD) is the leading cause of irreversible blindness worldwide. Considered a multifactorial disease, genetic and environmental factors corroborate for its development. Klein and colleagues mapped AMD to the 1q31 region in 1998 and variant Y420H (rs1061170) in the complement factor H (CFH) gene was the first variant related to AMD in this region. The substitution of tyrosine for histidine contributes to changes in how CFH interacts with heparin and C-reactive protein, affecting complement regulation mediated by the gene. Since its discovery this single nucleotide polymorphism (SNP) has been related to an increased risk for the disease in several populations from different ethnicities around the world. Furthermore, Spencer and co-workers suggested that the CFHR3/CFHR1 deletion leads to the loss of two complement regulators (CFHR1 and CFHR3), increasing regulation mediated by CFH, having a protective effect against AMD development. We aimed at evaluating the contribution of Y402H polymorphism in the CFH gene and CFHR3/CFHR1 deletion in the 1q32 region in relation to AMD’s etiology in a sample of the Brazilian population. A total of 175 subjects diagnosed with AMD (case group) and 165 without (control group) were analyzed. Both patients and control subjects were selected at the Clinical Hospital of the University of Campinas (UNICAMP), Campinas, São Paulo, located in the Southeast of Brazil. This study was approved by the Ethics Committee and all participants signed an informed consent. Details about ophthalmic examination, inclusion and exclusion criteria as well as classification were previously described. The Y402H variant was evaluated through PCR and enzymatic digestion, and the CFHR3/ CFHR1 deletion through PCR as published elsewhere. Statistical analysis was performed using SAS program (Statistical Analysis System, version 9.4, by SAS Institute Inc., 2002–2008, Cary, NC, USA). Chi-square and Fisher’s exact tests were used to compare categorical variables. Kruskal-Wallis and Mann-Whitney tests were used to compare quantitative variables. Univariate and multivariate logistic regression analysis were used to investigate risk factors for AMD. A p-value less than 0.05 was considered statistically significant. Hardy-Weinberg Equilibrium was employed to analyze genotype distribution in case and control groups. Overall, 340 individuals were involved in this study. Out of these, 130 patients (74.29%) had the advanced form of the disease (A) versus 45 patients (25.71%) with non-advanced AMD (NA). Sixty-six patients (37.71%) presented with the dry form and 109 (62.29%) with the wet form of AMD. Mean age was 74.44 ± 8.02 for cases and 71.36 ± 7.10 for controls. In the case group 42% were men against 47% in the control group and 45% were smokers in the case group against 25% in the control group.When the variables gender, smoking and genetic factors were evaluated in relation to the risk of developing AMD, no association was observed for gender and smoking. The C allele of the CFH Y402H SNP was more frequent in the case group than in the control group (47% compared to 31%) (p = .00002, chi-square test) and considered a risk factor for the disease. The genotype distribution was consistent with the Hardy-Weinberg Equilibrium (HWE) in both groups. The frequency of the CFHR3/CFHR1 deletion was higher in the control group (8.5%) than in the case group (1.7%) (p = .0097), suggesting a protective role against the disease. All possible combination of genotypes and respective odds ratios (OR) are depicted in Table 1. After stratifying AMD according to its subtypes, results were also significantly different between “wet vs. controls” (p = .0004) and “dry vs. controls” (p = .0004) for the CFH genotypes and allele frequency (p < .001). The highest OR was achieved for CC versus TT genotypes when comparing “wet versus controls.” Evaluating the role of the CFHR3/CFHR1 deletion in relation to AMD type, the risk for the absence of the deletion was higher in the wet type group compared to the control group (p = .0423). After the evaluation of theCFH genotypes in relation to the form of the disease results show that the CC genotype is significantly associated with both A and NA forms when compared to the control group, with the highest OR for the advanced form (p < .0001). Evaluating the role of the CFHR3/CFHR1 deletion in relation to AMD form, the presence of the deletion was not statistically different between groups. After the multivariate regression analysis only the CFH category CC/TC versus TT sustained the significance for all comparisons (Table 2).

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

ABSTRACT 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.