Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significant findings in 9173 POAG cases and 26 780 controls across 18 collections of Asian, African and European descent. Apart from confirming strong evidence of association at CDKN2B-AS1 (rs2157719 [G], odds ratio [OR] = 0.71, P = 2.81 × 10−33), we observed one SNP showing significant association to POAG (CDC7–TGFBR3 rs1192415, ORG-allele = 1.13, Pmeta = 1.60 × 10−8). This particular SNP has previously been shown to be strongly associated with optic disc area and vertical cup-to-disc ratio, which are regarded as glaucoma-related quantitative traits. Our study now extends this by directly implicating it in POAG disease pathogenesis.
Anterior chamber depth (ACD) is a key anatomical risk factor for primary angle closure glaucoma (PACG). We conducted a genome-wide association study (GWAS) on ACD to discover novel genes for PACG on a total of 5,308 population-based individuals of Asian descent. Genome-wide significant association was observed at a sequence variant within ABCC5 (rs1401999; per-allele effect size = −0.045 mm, P = 8.17×10−9). This locus was associated with an increase in risk of PACG in a separate case-control study of 4,276 PACG cases and 18,801 controls (per-allele OR = 1.13 [95% CI: 1.06–1.22], P = 0.00046). The association was strengthened when a sub-group of controls with open angles were included in the analysis (per-allele OR = 1.30, P = 7.45×10−9; 3,458 cases vs. 3,831 controls). Our findings suggest that the increase in PACG risk could in part be mediated by genetic sequence variants influencing anterior chamber dimensions.
Background/aimsTo compare treatment outcomes with and without silicone oil tamponade in patients undergoing pars plana vitrectomy (PPV) for severe endogenous bacterial endophthalmitis (BEE).MethodsOne hundred and eight consecutive patients with severe BEE (defined by the absence of pupil red reflex at presentation and/or dense vitreous opacity on ultrasound and no improvement after 24–36 hours of medical treatment) were randomly assigned to two treatment groups: Group 1, standard PPV with intravitreal antibiotics; and Group 2, PPV with intravitreal antibiotics and silicone tamponade. Overall success was defined as: a visual acuity ≥ count fingers at 1 meter, with an attached retina, and no intraocular oil.ResultsFifty three patients were randomized to Group 1 and 55 patients to Group 2. The mean age of study subjects was 32 years and baseline clinical characteristics were similar in both groups. At the final follow-up visit at 9 months, the overall success rate of Group 2 (67.3%) was significantly better than Group 1 (43.4%; P=0.01). There were also fewer devastating complications (such as inoperable retinal detachment, phthisis bulbi) in Group 2 compared with Group 1 (21.8% versus 43.4%; P=0.01).ConclusionThe outcome at 9 months of patients with BEE treated by vitrectomy with silicone oil was better than those treated by vitrectomy alone.
BACKGROUND: Pediatric endophthalmitis after open-globe injury had its clinical features, microbiological profile different from those in aldults. In Viet Nam, there was no report on the clinical and microbiological characteristic of pediatric posttraumatic endophthalmitis. Therefore, we conduct this study. AIM: To describe clinical features, ultrasound results, gram stain and culture results of endophthalmitis in pediatric open globe injuries. METHODS: Prospective non-controlled study. Case series of 30 eyes presenting with post-traumatic endophthalmitis between 2015 and 2016 were reviewed. RESULTS: Mean age was 8.03 ± 3.99 years. Metallic and organic etiologies were most common causes for injuries (n = 11). 27 cases had penetrating corneal trauma. Dense opaque vitreous was seen in 25 eyes. Retinal necrosis < 1 quadrant and chorioretinal abscess > 1 quadrant were most common fundus lesions. Dense vitreous opacity on ultrasound was most common (n = 28). Gram stain bacteria positivity was 93.3%, gram-positive were isolated in 63.3%. Vitreous samples were more often positive than aqueous (P = 0,002). CONCLUSION: Posttraumatic endophthalmitis in children is more common in boys aged 6-10 years and most often caused by injury with metallic and organic matter. Culture results were very low. Vitreous samples were more often positive than aqueous. Gram-positive bacteria were the most common causative organism.
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