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Purpose: To evaluate the effects of intravitreal ziv-aflibercept injections (IVZ) on subfoveal choroidal thickness (SCT) as well as on central macular thickness (CMT) and on best corrected visual acuity (BCVA) changes in eyes with center-involved diabetic macular edema (CI-DME). Methods: Fifty-seven eyes of 36 patients with CI-DME were included in this prospective interventional case series. Structural optical coherence tomography (OCT) and enhanced depth imaging OCT were performed at baseline followed by three monthly 1.25 mg IVZ injections. Changes of SCT, CMT, and BCVA at each follow-up session were assessed. The association between baseline SCT and its monthly changes with final visual and anatomical outcomes were also assessed. Results: CMT at baseline, and at the first, second, and third month follow-up sessions were 396 ± 119, 344 ± 115, 305 ± 89, and 296 ± 101 µm, respectively (P-value < 0.001). SCT at baseline, and at months one, two, and three were 236 ± 47, 245 ± 56, 254 ± 54, and 241 ± 54 µm, respectively (P-value > 0.99). Corresponding figures for BCVA were 0.58 ± 0.29, 0.47 ± 0.31, 0.4 ± 0.24, and 0.37 ± 0.23 LogMAR, respectively (P-value < 0.001). There was a statistically significant positive correlation between BCVA and CMT changes following IVZ injections (P-value < 0.001). However, there were no significant correlations between SCT changes and visual acuity (VA) and CMT changes following IVZ injections. Conclusion: IVZ improved visual outcomes and macular thickness profiles in patients with CI-DME. However, IVZ had no significant effect on SCT. Baseline SCT and its monthly changes had no association with visual and anatomical outcomes.
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BACKGROUND: To study the clinical utility of broad-range real-time Polymerase Chain Reaction (PCR) assay in patients suspected for infectious uveitis and to analyze the clinical relevance. METHODS: Medical records of patients with uveitis were assessed in whom PCR analysis of intraocular fluids was performed between January 2018 and February 2021. Intraocular samples were investigated for cytomegalovirus (CMV), Epstein-Barr virus (EBV), varicella zoster virus (VZV), herpes simplex viruses type 1 and 2 (HSV1,2), human T-lymphotropic virus type 1 (HTLV-1), Toxoplasma gondii and also for bacterial 16 S and fungal 18 S/28S ribosomal DNA (rDNA). RESULTS: Aqueous paracentesis and vitreous sampling was done for 151 (81.2%) and 35 (18.8%) patients, respectively. Most of the patients had panuveitis (61.3%). PCR results were positive in 69 out of 186 patients (37%) according to the following order: CMV (18 cases), VZV (18 cases), fungal 18s/28s rDNA (17 cases), HSV (9 cases), bacterial 16s rDNA (3 cases), HTLV-1 (2 cases), and Toxoplasma gondii (2 cases). PCR positivity rate was 5.8% in patients with undifferentiated panuveitis. EBV was not detected at all. Initial treatment was changed in 38 patients (20%) based on PCR results. The overall sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of PCR test for aqueous samples was 82%, 91%, 96%, and 87%, respectively. No significant adverse effect related to sampling was reported. CONCLUSION: PCR analysis of intraocular fluids in patients with suspected infectious uveitis plays an important role in confirming diagnosis or changing treatment with good predictive value. However, routine PCR test in patients with undifferentiated panuveitis in order to rule out possible underlying infectious etiology had low benefit.
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The purpose of this study is to evaluate the concentration of vascular endothelial growth factor (VEGF) in the vitreous humor of patients with primary rhegmatogenous retinal detachment (RRD). This is a prospective case control study. Eighteen patients with primary RRD without proliferative vitreoretinopathy C (PVR C) were enrolled as cases, and twenty-two non-diabetic retinopathy patients who were candidates for complete pars plana vitrectomy due to Macular Hole or Epiretinal Membrane were included as the control group. Undiluted vitreal samples were collected during the initiation of Pars Plana Vitrectomy (PPV) prior to any infusion into the posterior cavity. Vitreous samples were also collected from 21 fresh cadaveric globes. The vitreous concentration of VEGF was measured by enzyme-linked immunosorbent assay (ELISA) technique and compared between these two groups. The vitreal concentration of VEGF was 0.643 ± 0.088 ng/mL in the RRD group. Measured concentrations of VEGF in controls were 0.043 ± 0.104 ng/mL, and in cadaveric eyes they were 0.033 ± 0.058 ng/mL. The mean VEGF concentration in the RRD group was statistically higher than in the control group (p < 0.0001) and cadaveric eyes (p < 0.0001). Our study shows that vitreal VEGF concentrations significantly increase in patients with RRD.
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PURPOSE: Concomitant vitamin D deficiency (VDD) is speculated to aggravate diabetic macular edema (DME). We aimed to determine the effect of hypovitaminosis D correction on the outcome of treatment with intravitreal bevacizumab (IVB) in DME eyes. METHODS: In this randomized clinical trial, 83 eyes of 83 patients with DME were recruited and divided into three groups: normal vitamin D levels + IVB administration (Group 1), vitamin D insufficient/deficient + IVB administration (Group 2), and vitamin D insufficient/deficient + IVB administration + oral vitamin D supplementation (Group 3). Participants were followed for 6 months after the intervention. Visual (corrected distance visual acuity, CDVA) and anatomical (central macular thickness, CMT) outcomes of intervention were evaluated 1, 3, and 6 months after three monthly loading doses of IVB were given. Serum vitamin D levels were measured 1 and 6 months after the third IVB administration. RESULTS: A total of 29, 26, and 28 eyes were enrolled in groups 1, 2, and 3, respectively. In months 1, 3, and 6, after the three basic loading doses of IVB, visual acuity and CMT improved in all three groups, but improvements (both functional and anatomical) in groups 1 and 3 in month 6 were more significant than in group 2 (mean CDVA LogMAR changes: - 0.18 ± 0.03, - 0.14 ± 0.05, and - 0.2 ± 0.06; mean CMT reductions: - 82.24 ± 11.43, - 66.62 ± 14.34, and - 86.14 ± 18.36, in groups 1, 2, and 3, respectively; p < 0.001). The mean number of IVB injections during follow-up was 5.33 (range 4-7), which did not differ between the groups. CONCLUSION: Correction of vitamin D deficiency in DME patients with type 2 diabetes and vitamin D deficiency, in addition to IVB injections, may play a role in improving CDVA and CMT. However, this beneficial effect seems to be delayed by several months. TRIAL REGISTRATION: Iranian Registry of Clinical Trials (IRCT), IRCT20200407046978N1, registered on April 11, 2020, retrospectively registered ( https://en.irct.ir/trial/46999 ).
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Diabetes Mellitus Tipo 2 , Retinopatia Diabética , Edema Macular , Deficiência de Vitamina D , Humanos , Edema Macular/diagnóstico , Edema Macular/tratamento farmacológico , Edema Macular/etiologia , Bevacizumab , Retinopatia Diabética/complicações , Retinopatia Diabética/diagnóstico , Retinopatia Diabética/tratamento farmacológico , Diabetes Mellitus Tipo 2/complicações , Irã (Geográfico) , Inibidores da Angiogênese , Quimioterapia Combinada , Resultado do Tratamento , Injeções Intravítreas , Deficiência de Vitamina D/complicações , Deficiência de Vitamina D/tratamento farmacológico , Vitamina D/uso terapêutico , Suplementos Nutricionais , Tomografia de Coerência ÓpticaRESUMO
INTRODUCTION: Rhegmatogenous retinal detachment (RRD) is the most common type of retinal detachment. Purpose of this study is to evaluate the possible association of ARMS2 (age-related macular susceptibility 2) A69S and CFH (complement factor H) Y402H polymorphisms with post-surgical macular complications. MATERIALS AND METHODS: One hundred and two RRD patients with macular involvement and proliferative vitreoretinopathy grade A prospectively were enrolled in the study. All patients were genotyped for two polymorphisms of CFH Y402H and ARMS2 A69S by applying Polymerase Chain Reaction (PCR)-Restriction Fragment Length Polymorphism (RFLP). Scleral buckling or deep vitrectomy performed based on surgeon decision. Optical coherence tomography (OCT) for all patients was performed on three, six, and twelve months after operation. RESULTS: The ARMS2 A69S GT genotype showed significant association with postoperative cystoid macular edema (OR = 3.11, P = 0.039). Logistic regression analysis showed that the effect of ARMS2 GT vs GG genotype remained significant on CME after confounding factors correction. (ARMS2 GT vs GG OR = 4.79, p value = 0.035). No association was observed between studied genotypes and postoperative persistent subfoveal fluid, macular atrophy, and macular epiretinal membrane. CONCLUSIONS: The ARMS2 A69S GT genotype was significantly associated with postoperative cystoid macular edema in RRD cases with macular involvement.
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Fator H do Complemento , Edema Macular , Proteínas , Descolamento Retiniano , Fator H do Complemento/genética , Genótipo , Humanos , Edema Macular/etiologia , Polimorfismo de Nucleotídeo Único , Proteínas/genética , Descolamento Retiniano/genética , Descolamento Retiniano/cirurgiaRESUMO
PURPOSE: To describe the optical coherence tomography (OCT) findings of toxoplasmic retinochoroiditis at different stages of activity. METHODS: Observational case series. RESULTS: A total of 32 eyes of 31 patients were included; 43 sets of OCT were reviewed. A total of 14 lesions were classified as active, 13 as partially active, and 16 as inactive. All active lesions demonstrated increased retinal thickness and reflectivity with blurring of details of retinal layers. Choroidal granuloma was detected in eight (61.5%) and serous retinal detachment in nine (64%). In partially active lesions, sustained thickening and/or attachment of posterior hyaloid face with fine epiretinal membrane was the hallmark. Scarified lesions showed decreased retinal and choroidal thickness starting from the periphery. Characteristic signs for decreased activity of a lesion seen in majority of both partially active and inactive lesions were RPE changes and retina-RPE approximation. We called this unique feature 'hourglass configuration'. CONCLUSION: Features in OCT are helpful to specify and monitor the activity of toxoplasmic retinochoroiditis.
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Descolamento Retiniano , Toxoplasmose Ocular , Corioide/patologia , Humanos , Tomografia de Coerência Óptica/métodos , Toxoplasmose Ocular/diagnóstico , Toxoplasmose Ocular/patologia , Acuidade VisualRESUMO
PURPOSE: This study aimed to evaluate biosimilar adalimumab's efficacy and safety in patients with Behçet's uveitis in Iran. METHODS: We performed a study on patients who mostly (79.2%) had a failure on conventional treatment with the mean follow-up time of 19.24 months (95% confidence interval (CI), 16.52-21.96). All the enrolled patients were anti-tumor necrosis factor (anti-TNF) naiive. The primary endpoint was best-corrected visual acuity (BCVA) improvement, and the secondary endpoints were changes in macular thickness, vitreous haze grade, anterior chamber (AC) cell grade, prednisolone dose, and the incidence of adverse reactions. RESULTS: Forty-eight patients were enrolled in the study. After adalimumab use, visual acuity improved significantly (p-valueË.001); vitreous haze grade decreased (p-valueË.001), and AC cell grade improved (p-value = .002). Macular thickness decreased, but its change was not statistically significant (p-value = .1). Moreover, adalimumab showed a corticosteroid-sparing effect (p-value = .03). CONCLUSION: Biosimilar adalimumab (CinnoRA®) is effective and well-tolerated in Behçet's uveitis.
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Síndrome de Behçet , Medicamentos Biossimilares , Uveíte , Humanos , Adalimumab/uso terapêutico , Medicamentos Biossimilares/uso terapêutico , Inibidores do Fator de Necrose Tumoral , Resultado do Tratamento , Uveíte/diagnóstico , Uveíte/tratamento farmacológico , Uveíte/etiologia , Síndrome de Behçet/diagnóstico , Síndrome de Behçet/tratamento farmacológicoRESUMO
PURPOSE: This case-control study aimed to evaluate the possible association of MCP-1 - 2518A/G genetic polymorphism with Behcet's disease (BD) in the Iranian patients. MATERIALS AND METHODS: This study was performed in 135 Behcet's patients (51 ocular and 84 non-ocular) and 79 healthy individuals. Peripheral blood samples were genotyped for MCP-1 - 2518A/G using the PCR-RFLP technique. RESULTS: The statistical analysis of MCP-1 - 2518A/G showed no significant differences in genotype/allele frequencies between Behcet's patients and controls. There was no significant association in genotype/allele frequencies between either ocular or non-ocular BD patients and controls. Also, different genotype/allele frequencies between ocular and non-ocular BD were not statistically significant. CONCLUSIONS: In this study, with a threshold P-value of 0.05 and an estimated power of 0.81 to detect a significant association (odds ratio ≥1.2), we did not observe any association of this variant with Behcet's disease.
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Síndrome de Behçet , Quimiocina CCL2 , Síndrome de Behçet/epidemiologia , Síndrome de Behçet/genética , Estudos de Casos e Controles , Quimiocina CCL2/genética , Frequência do Gene , Predisposição Genética para Doença , Genótipo , Humanos , Irã (Geográfico)/epidemiologia , Polimorfismo de Nucleotídeo ÚnicoRESUMO
BACKGROUND: Age-related Macular Degeneration (AMD) is a complex eye disease, which is genetically associated with different susceptibility loci. We planned to investigate the possible association of Complement Factor B (CFB) rs4151667 (L9H) variants and their possible interaction with Complement Factor H (CFH) Y402H and Complement factor 3 (C3) rs2230199 (R102G) in AMD. METHODS: This case-control association study included 216 advanced type AMD patients and 191 healthy individuals for evaluation. Extracted-DNA samples were genotyped for the polymorphic regions of CFB rs4151667 (L9H), CFH Y402H and C3 rs2230199 (R102G). RESULTS: The distribution of CFB rs4151667 (L9H) genotypes was not significantly different in the AMD patients compared to that of controls (P = 0.18). The AT genotype frequencies for CFB was non significantly lower in AMD group (6.5% vs. 13.1%, AOR = 0.49, CI = 0.23-1.04, P = 0.064(. The A allele of CFB rs4151667 (L9H) was found to be non-significantly lower in AMD patients. CFB rs4151667 (L9H) had no protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants. CONCLUSIONS: This study showed that the protective role of CFB rs4151667 (L9H) in AMD is not significant and it has no significant protective interactional effect against CFH (Y402H) and C3 (R102G) risk variants.
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Fator B do Complemento , Degeneração Macular , Estudos de Casos e Controles , Complemento C2/genética , Fator B do Complemento/genética , Fator H do Complemento/genética , Frequência do Gene , Genótipo , Humanos , Degeneração Macular/genética , Polimorfismo de Nucleotídeo ÚnicoRESUMO
PURPOSE: Age-related macular degeneration (AMD) as the leading cause of central visual loss in the developed countries has extensive pathologic similarities with Alzheimer's disease (AD). Saitohin rs62063857 Q7 R polymorphism is associated with increased risk of AD though we decided to evaluate the possible association of this polymorphism with advanced AMD. MATERIALS AND METHODS: 152 advanced AMD patients (134 wet AMD and 18 geographic atrophy) and 75 healthy controls included in this study. Cases and controls went through a standard ophthalmologic examination by a retinal specialist. Saitohin gene rs62063857 polymorphism determined by using PCR technique and restriction enzyme HinFI. To evaluate the differences between groups we used t-test, Chi-Squared and one-tailed Fisher exact test. RESULTS: Distribution of genotypes was not significantly different between total AMD or wet AMD patients compared to that of controls (total AMD RR+QR: OR = 1.51, CI = 0.82-2.79, P = .12; wet AMD RR+QR: OR = 1.39, CI = 0.74-2.59, P = .19). The RR+QR genotypes were significantly higher in dry AMD group compared to that of controls (RR+QR: OR = 2.75, CI = 0.96-7.9, P = .05). CONCLUSION: Our results showed that although STH Q7 R polymorphism was not associated with wet AMD susceptibility it was significantly associated with geographic atrophy.
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Degeneração Macular/patologia , Polimorfismo de Nucleotídeo Único , Proteínas tau/genética , Idoso , Estudos de Casos e Controles , Feminino , Genótipo , Humanos , Degeneração Macular/classificação , Degeneração Macular/genética , Masculino , PrognósticoRESUMO
BACKGROUND: Complement factor H (CFH) Y402 H (rs1061170) and age-related maculopathy susceptibility2 (ARMS2)/LOC387715 A69 S (rs10490924) polymorphisms shown to have significant association with AMD. In this meta-analysis, we updated and pooled the results of available association studies between combined ARMS2/LOC387715A69 S-CFHY402 H genotypes and AMD to estimate the synergistic effects. METHODS: Heterogeneity of studies was evaluated using Cochran Q-test and I-square index. To modify the heterogeneity in the variables we used random effects model. Meta-analysis was performed using STATA. To estimate the additive or supra-additive effects we calculated RERI (relative excess risk due to interaction), AP (attributable proportion due to interaction), S (synergy index) and V (multiplicative index). RESULTS: We included 12 studies with 4668 AMD patients and 4936 control subjects. Considering the GGTT genotypes as reference line, the pooled AMD odds ratios for stratified combined genotypes was 2.13 (95% CI 1.64-2.78) for GGnonTT, 2.17 (95% CI 1.63-2.89) for nonGGTT and 7.23 (95% CI 4.95-10.55) for nonGGnonTT. Pooled synergy analysis revealed RERI = 3.90 (95% CI 0.58-10.03), AP = .53 (95% CI 0.09-0.69), S = 2.57 (95% CI 1.27-5.22) and V = 1.47 (95% CI 1.21-1.80). CONCLUSION: This updated analysis showed a strong synergistic and positive multiplicative effect of these two genes indicating that there is common pathway of ARMS2/LOC387715 A69 S and CFH Y402 H in AMD pathogenesis which may be complement system pathway.
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Predisposição Genética para Doença , Degeneração Macular/patologia , Polimorfismo de Nucleotídeo Único , Proteínas/genética , Fator H do Complemento/genética , Genótipo , Humanos , Degeneração Macular/genética , PrognósticoRESUMO
Background/Purpose Vogt-Koyanagi-Harada (VKH) disease is a primary autoimmune stromal choroiditis producing a spill-over panuveitis. For initial-onset VKH disease, it is increasingly thought that corticosteroid therapy is not sufficient and additional non-steroidal immunosuppressive therapy is needed. At the 11th workshop on VKH, the disease was said to be well controlled with corticosteroids alone in Japanese patients. The aim of this study was to review the literature to determine whether different levels of severity exist in different geographical areas. METHODS: Literature was reviewed for studies on the evolution of initial-onset VKH disease, looking at treatment modalities and proportion of cases with chronic evolution and/or sunset-glow fundus (SGF). RESULTS: PubMed search yielded 1249 references containing the term of Vogt-Koyanagi-Harada. Twenty references (15 from outside of Japan and 5 from Japan) contained information on the evolution of treated initial-onset disease. For the "international" group, percentage of chronic evolution after systemic corticosteroid monotherapy was 61%, and after combined steroidal and non-steroidal therapy it fell to 2% (0% in 3/4 studies). In the Japanese studies where all patients received systemic corticosteroids alone, chronic evolution was reported in 25%; however, SGF amounted to 61%. CONCLUSION: In the world at large, chronic evolution of initial-onset VKH disease treated with corticosteroids alone concerned two-thirds of patients. Japanese studies showed that chronic evolution was substantially less frequent, indicating possibly less severe disease in Japan. This proportion fell to almost zero when dual steroidal and non-steroidal immunosuppression was given at onset.
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Corioidite , Síndrome Uveomeningoencefálica , Fundo de Olho , Humanos , Japão/epidemiologia , Recidiva , Síndrome Uveomeningoencefálica/diagnóstico , Síndrome Uveomeningoencefálica/tratamento farmacológico , Síndrome Uveomeningoencefálica/epidemiologiaRESUMO
PURPOSE: To report a case of non-paraneoplastic autoimmune retinopathy (npAIR) treated with intravenous immunoglobulin (IVIG). CASE REPORT: A 12-year-old boy presented with progressive visual field loss, nyctalopia, and flashing for three months. He had suffered from common cold two weeks before the onset of these symptoms. On the basis of clinical history and paraclinical findings, he was diagnosed with npAIR, and IVIG without immunosuppressive therapy was started. During the one-year follow-up period after the first course of IVIG, flashing disappeared completely. Visual acuity remained 10/10, but nyctalopia did not improve. Multimodal imaging showed no disease progression. CONCLUSION: Although established retinal degenerative changes seem irreversible in npAIR, IVIG may be a suitable choice to control the disease progression.
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PURPOSE: There are conflicting results of studies investigating the association between the tumor necrosis factor (TNF) and angiotensin-converting enzyme (ACE) gene polymorphisms and Behcet's disease (BD). The aim of this meta-analysis is to assess the association between these gene polymorphisms and ocular involvement in BD. METHODS: We identified relevant studies and reviewed the full-text manuscripts of the studies in order to select those for inclusion. Heterogeneity of studies was evaluated using Cochran Q-test and I-square index. To modify the heterogeneity in the variables we used random effects model. Meta-analysis was performed using STATA. RESULTS: We analyzed TNF-1031, -308 and ACE DD/II genotype difference between BD patients with and without uveitis. Among these polymorphic genetic loci TNF-308 AA genotype has a statistically significant protective effect against BD uveitis (OR = 0.45 vs 1.23, p = .017). Such a statistically significant effect was not seen for other studied genotypes. CONCLUSION: This meta-analysis revealed a significant protective effect of TNF-308 AA genotype against ocular involvement in Behcet's disease.
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Síndrome de Behçet/patologia , Peptidil Dipeptidase A/genética , Polimorfismo de Nucleotídeo Único , Fator de Necrose Tumoral alfa/genética , Uveíte/complicações , Síndrome de Behçet/etiologia , Síndrome de Behçet/genética , Humanos , PrognósticoRESUMO
BACKGROUND AND OBJECTIVE: To report the correlation of central macular thickness (CMT) and best-corrected visual acuity (BCVA) after 1-year treatment by two doses (2.5 mg or 1.25 mg) of intravitreal ziv-aflibercept (IVZ) versus bevacizumab (IVB) in eyes with diabetic macular edema (DME). PATIENTS AND METHODS: In this study, the correlation of CMT and BCVA changes of the eyes enrolled in a previous clinical trial of 123 eyes were re-evaluated. The correlation of BCVA and CMT changes at each visit was evaluated in the three study arms individually. Then, the eyes in each of the arms were classified at each follow-up visit into three subgroups based on their CMT changes related to the baseline CMT: CMT decrease of 30% or more of baseline CMT, between 10% to 29% of baseline CMT, and less than 9% of baseline CMT or CMT increase. RESULTS: BCVA and CMT changes were correlated significantly (P < .05) in all and in half of the follow-up visits, respectively, in the eyes treated by IVZ 1.25 mg and IVB (r = 0.554 and r = 0.617 at 1 year, respectively). Nevertheless, such a significant correlation was not detected in the eyes treated by IVZ 2.5 mg in any of the follow-up visits (r = 0.202 at 1 year; P = .259). In the IVZ 2.5 mg group, BCVA improvement was observed in all subgroups with each level of CMT reductions. CONCLUSION: Ziv-aflibercept 2.5 mg might have a beneficial effect on DME beyond thickness reduction. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:684-690.].
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Inibidores da Angiogênese/administração & dosagem , Bevacizumab/administração & dosagem , Retinopatia Diabética/complicações , Macula Lutea/patologia , Edema Macular/tratamento farmacológico , Receptores de Fatores de Crescimento do Endotélio Vascular/administração & dosagem , Proteínas Recombinantes de Fusão/administração & dosagem , Acuidade Visual/fisiologia , Adulto , Idoso , Retinopatia Diabética/tratamento farmacológico , Feminino , Angiofluoresceinografia , Humanos , Injeções Intravítreas , Edema Macular/fisiopatologia , Masculino , Pessoa de Meia-Idade , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: To determine the possible association of rs4151667 (L9H) complement factor B (CFB) gene with age-related macular degeneration (AMD). The L9H is one of the functional variations of the CFB. CFB gene encodes the most important protein of the complement system. METHODS: Two hundred sixty-six patients with AMD and 194 unrelated age/sex-matched controls were genotyped for CFB gene (rs4151667) using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. All research subjects were selected from three regions of Iran (Tehran, Tabriz, and Gonabad). RESULTS: The results showed a significant difference between the frequency of non-TT genotype in total patients and controls [odds ratio (OR) = 0.424, P = 0.038]. The analysis for each studied region showed that in patients originating from the Gonabad population, the frequency of TT and non-TT genotypes between patients and the control group were significantly different (OR = 2.894, P = 0.046 for TT genotype and OR = 0.346, P = 0.026 for non-TT genotype). In patients originating from Tabriz population, TT and non-TT genotypes and A allele revealed considerably different frequencies between the patient and control groups (OR = 3.043, P = 0.017; OR = 0.329, P = 0.013 and OR = 0.347, P = 0.048, respectively). Analysis of patients from Tehran also showed that there was a significant difference in the frequency of TT genotype between patients and controls (OR = 2.168, P = 0.04). CONCLUSIONS: The results of the current study indicated a possible protective role for non-TT genotype in L9H variation CFB gene against AMD in a sample of the Iranian population. The region segregation results showed that TT genotype might be a risk factor for susceptibility to AMD.
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Síndrome de Behçet/genética , Oftalmopatias/fisiopatologia , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Adulto , Síndrome de Behçet/epidemiologia , Síndrome de Behçet/patologia , Estudos de Casos e Controles , Feminino , Seguimentos , Humanos , Irã (Geográfico)/epidemiologia , Masculino , PrognósticoRESUMO
BACKGROUND: Age-related macular degeneration (AMD) is a complex disease, and recent studies have shown role of complement system genes in its development. Complement factor I regulates the complement pathways, and relationship between CFI polymorphisms and AMD is controversial. We evaluated the possible association of complement factor I rs141853578 (G119R) variation with advanced AMD in Iranian patients. MATERIALS AND METHODS: We included 371 case-control samples consisting of 220 advanced AMD patients and 151 genetically unrelated healthy controls. Extracted DNA samples amplified to obtain fragment including the polymorphic complement factor I rs141853578 (G119R) region. RESULTS: The distribution of the genotypes was significantly different in the AMD patients compared to that of controls (p = 0.035). The TT genotype frequencies for CFI were significantly higher in AMD group (7.7 vs. 2%, OR 4.67, CI 1.33-16.45, p = 0.016). This significant difference was maintained after adjustment for the effects of age and gender (OR 5.09, CI 1.42-18.20, p = 0.012). The minor allele frequency (T allele) was also significantly higher in AMD patients compared to that of controls (29.3 vs. 21.5% OR 1.51, CI 1.07-2.13, p = 0.018). CONCLUSION: Current study showed that CFI rs141853578 (G119R) is a risk factor for developing advanced type AMD. This study also suggests that the frequency of G119R polymorphism in our population is not as rare as reported from other populations.
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Fator I do Complemento/genética , DNA/genética , Degeneração Macular/genética , Polimorfismo de Nucleotídeo Único , Idoso , Alelos , Estudos de Casos e Controles , Fator I do Complemento/metabolismo , Feminino , Frequência do Gene , Genótipo , Humanos , Incidência , Irã (Geográfico)/epidemiologia , Degeneração Macular/diagnóstico , Degeneração Macular/epidemiologia , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Epitélio Pigmentado da Retina/patologia , Tomografia de Coerência ÓpticaRESUMO
PURPOSE: Presentation of two typical cases with characteristic leopard retinopathy secondary to bilateral diffuse uveal melanocytic proliferation (BDUMP) and idiopathic uveal effusion syndrome (IUES) and brief review of the literature about leopard spot retinopathy. CASE REPORT: A 43-year-old women, who was a known case of ovarian carcinoma, referred with gradual bilateral visual loss. In ophthalmic examination, subretinal fluid, multiple patchy subretinal hyperpigmented lesions and leopard spot chorioretinopathy were evident in her both eyes. Fluorescein angiography showed multiple nummular hyperfluorescent lesions surrounded by zones of hypofluorescence. Spectral domain optical coherence tomography revealed increased retinal thickness, subretinal fluid and RPE irregularities in both eyes. Enhanced depth imaging OCT (EDI-OCT) showed bilateral subfoveal choroidal thickening. During next 2-year follow-up, she underwent cataract surgery and later on developed neovascular glaucoma in her both eyes. The second case was a 45-year-old man who had developed decreased visual acuity in his left eye for 3 years. Anterior segment examination was unremarkable, and both eyes had normal intraocular pressure. No vitreous inflammation was observed. Fundoscopy revealed diffuse exudative retinal detachment in his left eye. Fluorescein angiography showed leopard spot retinopathy of posterior pole, and EDI-OCT disclosed subfoveal choroidal thickening. After exclusion of other causes of exudative retinal detachment and with diagnosis of IUES, he underwent intravitreal triamcinolone injection (2 mg) which improved his final vision to 20/40. CONCLUSION: Leopard spot retinopathy is an uncommon but clinically distinct manifestation of various disorders. BDUMP may present with leopard spot retinopathy, anterior uveal tract involvement and neovascular glaucoma. As EDI-OCT showed involvement and increased thickening of choroid in both cases of BDUMP and IUES, it may be better to consider such cases as leopard chorioretinopathy and categorize these entities as a member of pachychoroid pigment retinopathy disorders.