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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. [ABSTRACT FROM AUTHOR]

Purpose: We designed this meta-analysis to pool studies which have analyzed both CFH (Y402H or I62V) and ARMS2 A69S in the same samples to compare the effect of CFH and ARMS2 in neovascular AMD. Methods: Relevant studies identified and reviewed separately in order to select those for inclusion. Included studies had genotype data of studied groups for both ARMS2 A69S and CFH. To modify the heterogeneity in the variables, we used random effects model. Meta-analysis was performed using STATA. Funnel plot and Egger's regression test used for evaluation of the possible publication bias. Results: Overall, we included 6676 neovascular AMD cases and 7668 controls. Pooled overall odds ratios (ORs) (95% CI) for neovascular AMD/control were ARMS2 A69S: OR = 2.35 (2.01–2.75) for GT versus GG; OR = 8.57 (6.91–10.64) for TT versus GG; CFH Y402H: OR = 1.94 (1.73–2.18) for CT versus TT; OR = 4.89 (3.96–6.05) for CC versus TT. ARMS2 A69S genotype OR/CFH Y402H genotype OR (homogeneous genotypes): Asia = 2.14, Europe: 1.87, America: 1.82, Middle East: 3.56, pooled: 1.75. ARMS2 A69S genotype OR/CFH Y402H genotype OR (heterogeneous genotypes): Asia = 0.93, Europe: 1.39, America: 2.06, Middle East: 1.20, pooled: 1.21. ARMS2 A69S risk genotypes have stronger predisposing effect on neovascular AMD compared to CFH Y402H risk genotypes. Conclusion: Our inclusion criteria to select those studies which have analyzed the effect of these two loci in the same case-control samples showed much stronger effect of ARMS2 A69S in neovascular AMD compared to the CFH Y402H. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Purpose: To present a recurrent case of conforming focal choroidal excavation (FCE) following multiple evanescent white dot syndrome (MEWDS) in a 25-year-old woman.Methods: Following spontaneous MEWDS sings resolution our patient noted a recurrent decrease in vision. Repeated OCT revealed elevation and mild disruption of RPE layer at fovea without previous angiographic MEWDS signs. At this time, short-term systemic steroid therapy was started and visual acuity became normal.Results: Following quiescence of the new-onset phase, the conforming type of FCE located in inferior macula appeared in OCT. In the following next 2 years recurrence of presumptive focal subfoveal choriocapillaritis occurred for three times presenting with blurred vision. During every acute attack, above-mentioned FCE disappeared and returned back again after resolution of presumptive focal choriocapillaritis.Conclusions: This is the first and unique case of recurrent type of FCE following MEWDS. It seems to disappear during active phase of presumptive focal choriocapillaritis and then returns after the eye has become quiescent. [ABSTRACT FROM AUTHOR]

Purpose: To compare the published results of studies on the genotype association of ARMS2/LOC387715 A69S, CFH Y402H, and CFH I62V in cases diagnosed as retinal angiomatous proliferation (RAP) versus neovascular age-related macular degeneration (AMD) or healthy controls. Methods: Heterogeneity of studies was evaluated using Cochran's 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: Four studies were included with 1076 neovascular AMD patients, 222 RAP cases, and 2276 control subjects. Pooled overall odds ratios for RAP/AMD were 1.15 (95% CI 0.60-2.18) for GT versus GG, 3.52 (95% CI 1.25-9.91) for TT versus GG ARMS2, 0.98 (95% CI 0.22-4.29) for GA versus AA, 1.00 (95% CI 0.25-4.02) for GG versus AA CFHI62V, 0.57 (95% CI 0.35-0.93) for CT versus TT CFH Y402H, and 0.40 (95% CI 0.22-0.74) for CC versus TT CFH Y402H. Regression analysis showed that ARMS2 TT genotype has a statistically significant effect on RAP versus AMD compared to CFH genotypes ( P < 0.001). Conclusion: This meta-analysis disclosed a stronger effect of ARMS2 genotypes in RAP cases compared with CFH Y402H and I62V genotypes. [ABSTRACT FROM AUTHOR]

Purpose: To determine the association of C-reactive protein (CRP) and complement factor H (CFH) gene with exudative age-related macular degeneration (AMD) and any possible interaction among these factors. Methods: In this case-control study, 139 unrelated patients with exudative AMD and 123 non-AMD controls were recruited. Blood sample was taken for analysis of the CRP levels and DNA testing. DNA fragments of CFH gene variants containing 4 single nucleotide polymorphisms including rs800292, rs1061170, rs2274700, and rs3753395 were assessed. A CRP level of ≥3 mg/L was considered as elevated. The association of elevated CRP and CFH gene variants polymorphism with exudative AMD was compared between the groups. Results: Mean age was 72.6 ± 6.4 for controls and 74.9 ± 7.4 for case group ( P = 0.006). The difference between CRP levels in cases and controls was not statistically significant ( P = 0.055). However, Y402H variant of CFH in both homozygous and heterozygous carriers C allele was significantly more frequent among exudative AMD patients than controls, 32.1 versus 6.5 % ( P < 0.001). Evaluating various CRP levels in patients with CC and non-CC genotypes disclosed that in CC genotype group, higher CRP level (>3 mg/L) was associated with higher risk of developing exudative AMD (OR = 12.0, CI: 1.5-98.8) compared with the control group. Conclusion: This study disclosed no difference in CRP levels per se between exudative AMD patients with control group. However, higher levels of CRP in the presence of C allele of Y402H might confer more risk for the development of exudative AMD. [ABSTRACT FROM AUTHOR]