BackgroundTo investigate the psychometric properties of the Brazilian Portuguese version of the National Eye Institute Visual Function Questionnaire (NEI VFQ-25) questionnaire in a group of patients with different eye diseases.MethodsCross-sectional study. All subjects completed the Portuguese version of the NEI VFQ-25 questionnaire. Another questionnaire containing a survey about clinical and demographics data was also applied. Rasch analysis was used to evaluate the psychometric properties of the NEI VFQ-25.ResultsThe study included 104 patients with cataract, 65 with glaucoma and 83 with age macular degeneration. Mean age was 70.7 ± 9.9 years, with 143 female (56.7%) and 109 male patients (43.2%). Mean visual acuity was 0.47 and 1.17 logMAR in the better and worse eye, respectively. According to Rasch analysis, seven items were found to misfit. Those items belonged to the following subscales: general health, social function, mental health, ocular pain and role limitations. The principal component analysis of the residuals showed that 55.5% of the variance was explained by the principal component. Eight items loaded positively onto the first contrast with a correlation higher than 0.4. These items belonged to the following subscales: near vision, distance vision, mental health and dependency. After excluding those items, we were able to isolate items from the NEI VFQ-25, related only to a visual functioning component. Finally, the principal component analysis from residuals of this revised version of the NEI VFQ-25 (items related to visual function) showed that the principal component explained 61.2% of the variance, showing no evidence of multidimensionality.ConclusionsThe Portuguese version of the NEI VFQ-25 is not a unidimensional instrument. We were able to find items that belong to a different trait, possible related to a socio-emotional component. Thus, in order to obtain psychometrically valid constructs, both the visual functioning and socio-emotional components should be analyzed separately.

This study aimed to investigate the association among genetic variants of the complement pathway CFB R32Q (rs641153), C3 R102G (rs2230199), and CFH (rs1410996) with age-related macular degeneration (AMD) in a sample of the Brazilian population. In a case-control study, 484 AMD patients were classified according to the clinical age-related maculopathy grading system (CARMS) and compared to 479 unrelated controls. The genetic variants rs1410996 of complement H (CFH), rs641153 of complement factor B (CFB), and rs2230199 of complement 3 (C3) were evaluated through polymerase chain reaction (PCR) and direct sequencing. The associations between single nucleotide polymorphisms (SNPs) and AMD, adjusted by age, were assessed by using logistic regression models. A statistically significant association was observed between AMD risk and rs2230199 variant with an OR of 2.01 ( P  = 0.0002) for CG individuals compared to CC individuals. Regarding the comparison of advanced AMD versus the control group, the OR was 2.12 ( P = 0.0036) for GG versus AA genotypes for rs1410996 variant. Similarly, the OR for rs2230199 polymorphism was 2.3034 ( P  = 5.47e-05) when comparing CG individuals to CC carriers. In contrast, the rs641153 variant showed a significant protective effect against advanced AMD for GA versus GG genotype (OR = 0.4406; P  = 0.0019). When comparing wet AMD versus controls, a significant association was detected for rs1410996 variant (OR = 2.16; P  = 0.0039) comparing carriers of the homozygous GG versus AA genotype, as well as in the comparisons of GG (OR = 3.0713; P  = 0.0046) and CG genotypes (OR = 2.2249; P  = 0.0002) versus CC genotype for rs2230199 variant, respectively. The rs641153 variant granted a significant protective effect against wet AMD for GA versus GG genotypes (OR = 0.4601; P  = 0.0044). Our study confirmed the risk association between rs2230199 and rs1410996 variants and AMD, and the protective role against AMD for rs641153 variant.

This study aimed to evaluate the role of APOE polymorphisms (rs429358 and rs7412) in the risk of age-related macular degeneration in a sample of the Southeastern Brazilian population. Seven hundred and five unrelated individuals were analyzed, 334 with age-related macular degeneration (case group), and 371 without the disease (control group). In the case group, patients were further stratified according to disease phenotypes, divided into dry and wet age-related macular degeneration, and non-advanced and advanced age-related macular degeneration. APOE polymorphisms (rs429358 and rs7412) were evaluated through polymerase chain reaction and direct sequencing. In the comparison of cases vs. controls, none of the associations reached statistical significance, considering the Bonferroni-adjusted P-value, although there was a suggestive protection for the E3/E4 genotype (OR = 0.626; P-value = 0.037) and E4 carriers (OR = 0.6515; P-value = 0.047). Statistically significant protection for both the E3/E4 genotype and E4 carriers was observed in the comparisons: advanced age-related macular degeneration vs. controls (OR = 0.3665, P-value = 0.491 × 10−3 and OR = 0.4031, P-value = 0.814 × 10−3, respectively), advanced age-related macular degeneration vs. non-advanced age-related macular degeneration (OR = 0.2529, P-value = 0.659 × 10−4 and OR = 0.2692, P-value = 0.631 × 10−4, respectively). In the comparison of wet age-related macular degeneration vs. control, protection was statistically significant only for E3/E4 (OR = 0.4052, P-value = 0.001). None of the comparisons demonstrated any significant association for E2 genotypes or E2 carriers in age-related macular degeneration risk in this study. Findings suggest a protective role of the E4 haplotype in the APOE gene in the risk for advanced and wet forms of age-related macular degeneration, in a sample of the Brazilian population. To our knowledge, this is the first Brazilian study to show the association between APOE polymorphisms and age-related macular degeneration.

Background To evaluate the impact of age-related macular degeneration (AMD) on the quality of life (QoL) in a Brazilian population using The National Eye Institute-Visual Function Questionnaire-25 (NEI-VFQ-25). Methods This observational study included 462 participants from the Departments of Ophthalmology of the University of Campinas and Conderg-Divinolândia. The NEI-VFQ-25 questionnaire and Rasch analysis were used to assess the vision-related quality of life (VRQoL). Patients with macular neovascularization were interviewed at enrollment and after three loading doses of intravitreal anti-vascular endothelial growth factor (anti-VEGF) treatment. Results One hundred thirty-three patients were excluded because they had another ophthalmic disease, for a total of 349 patients included in the study (177 in the AMD group, 172 in the control group; 56.4% were women; mean ± standard deviation age, 70.6 ± 9.5 years). Most NEI-VFQ-25 subscale scores were significantly lower in the AMD group compared with the control group. The Rasch-calibrated NEI-VFQ-25 median score in the visual-functioning component was 56.41 for the AMD group and 61.53 for the control group, a difference of ± 4.00 (P = 0.0001). Separate analyses of the sociodemographic and ocular characteristics showed that the NEI-VFQ-25 scores were affected mostly by family income, educational level, descent, diet (vegetables/fruits), physical activity, and visual acuity (VA). The longitudinal component assessed a different group of 48 patients with exudative disease treated with anti-VEGF drugs. The mean logarithm of the minimum angle of resolution change in VA in treated eyes was a 0.16 decrease (P = 0.01). The mean change in the optical coherence tomography macular thickness was a 36.74-μm decrease (P = 0.012) from baseline to 4 months. The mean NEI-VFQ-25 scores improved significantly from baseline to follow-up at 4 months in almost all subscales. Conclusions In a Brazilian community, patients with AMD had a worse VRQoL than controls. The AMD severity and bilaterality were associated with decreased NEI-VFQ-25 scores. Higher family income, educational level, descent, and lifestyle significantly improved several subscales of the NEI-VFQ-25 questionnaire. Treated patients with exudative AMD had improvements in the VA, macular thickness, and most NEI-VFQ-25 subscale scores.

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