Complement factor H shows very strong association with Age-related Macular Degeneration (AMD), and recent data suggest that multiple causal variants are associated with disease. To refine the location of the disease associated variants, we characterized in detail the structural variation at CFH and its paralogs, including two copy number polymorphisms (CNP), CNP147 and CNP148, and several rare deletions and duplications. Examination of 34 AMD-enriched extended families (N = 293) and AMD cases (White N = 4210 Indian = 134; Malay = 140) and controls (White N = 3229; Indian = 117; Malay = 2390) demonstrated that deletion CNP148 was protective against AMD, independent of SNPs at CFH. Regression analysis of seven common haplotypes showed three haplotypes, H1, H6 and H7, as conferring risk for AMD development. Being the most common haplotype H1 confers the greatest risk by increasing the odds of AMD by 2.75-fold (95% CI = [2.51, 3.01]; p = 8.31×10−109); Caucasian (H6) and Indian-specific (H7) recombinant haplotypes increase the odds of AMD by 1.85-fold (p = 3.52×10−9) and by 15.57-fold (P = 0.007), respectively. We identified a 32-kb region downstream of Y402H (rs1061170), shared by all three risk haplotypes, suggesting that this region may be critical for AMD development. Further analysis showed that two SNPs within the 32 kb block, rs1329428 and rs203687, optimally explain disease association. rs1329428 resides in 20 kb unique sequence block, but rs203687 resides in a 12 kb block that is 89% similar to a noncoding region contained in ΔCNP148. We conclude that causal variation in this region potentially encompasses both regulatory effects at single markers and copy number.
PURPOSE:The purpose of this study is to assess clinical characteristics, risk factors, and management outcomes of retinal changes similar to retinopathy of prematurity (ROP), seen in full-term infants.PATIENTS AND METHODS:This is a retrospective review of 46 eyes of 23 patients, born at full term or near full term and diagnosed to have active ROP-like retinopathy or sequelae of ROP-like retinopathy.RESULTS:Mean birth weight (BW) and gestational age (GA) were 2342 ± 923 g (range, 1200–4160 g) and 38.5 ± 1.85 weeks (range, 37–40 weeks). Mean age at the time of diagnosis was 3.5 ± 8.75 years (range, 1 month–16 years). Stage 1 and 2 of retinopathy was seen in 10 eyes (21.7%), threshold disease with plus disease in 12 eyes (26%) and Stage 4 or 5 in 14 eyes (30.4%). Involutional sequelae were noted in 10 eyes (21.7%). Twenty-one eyes (45.6%) underwent appropriate treatment in the form of laser, cryotherapy, or retinal detachment surgery. Eight eyes (17.4%) with advanced sequelae such as total closed funnel retinal detachment and macular fold were not treated. Mean follow-up was 3 years (range, 1 month to 12 years). At the last follow-up, 29 eyes (63%) had a favorable structural outcome (P < 0.001). Among the patients in whom visual acuity could be assessed (16 eyes), favorable visual outcome was noted in 9 eyes (56.2%). Low BW (P = 0.038), multiple births (P = 0.013), respiratory distress syndrome (RDS) (P = 0.001), phototherapy (P = 0.001), and oxygen administration (P < 0.001) were significantly associated with the development of ROP-like retinopathy in these full-term infants.CONCLUSIONS:ROP-like retinopathy can occur in full-term and near full-term infants and can potentially lead to permanent visual impairment. Screening of infants with risk factors such as oxygen administration, RDS, multiple births, and low BW, regardless of GA, may reduce visual impairment.
We report a case of a 55-year-old female who presented with pain, redness, and profound visual loss in her right eye 2 weeks after cataract surgery. An ophthalmic examination showed light perception vision, corneal edema with severe anterior chamber reaction and hypopyon, exudative membranes on the anterior lens surface, and dense vitreous exudates. Under the impression of acute postoperative exogenous endophthalmitis, immediate pars plana vitrectomy with culture of vitreous aspirate and intravitreal antibiotic injections were performed. Bacterial growth was observed on culture plates and broths which were identified as Aeromonas salmonicida by VITEK 2 compact system. So far, no report has been published regarding endophthalmitis due to A. salmonicida. Here, we present the first report of A. salmonicida isolated from the ocular specimen.
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