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1.
Hum Mol Genet ; 24(13): 3880-92, 2015 Jul 01.
Article in English | MEDLINE | ID: mdl-25861811

ABSTRACT

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.


Subject(s)
Glaucoma, Open-Angle/genetics , Polymorphism, Single Nucleotide , Proteoglycans/genetics , Receptors, Transforming Growth Factor beta/genetics , Aged , Aged, 80 and over , Alleles , Female , Genetic Variation , Genotype , Humans , Male , Middle Aged
2.
Clin Exp Ophthalmol ; 34(5): 411-20, 2006 Jul.
Article in English | MEDLINE | ID: mdl-16872335

ABSTRACT

BACKGROUND: To study the long-term efficacy and safety of diode laser cycloablation under a standard protocol in refractory glaucoma. METHODS: A retrospective study involving 42 eyes (39 patients), observed for 36-84 (mean 65.7) months after cycloablation involving 14 burns of 2-W power and 2-s duration, over 270 degrees of the ciliary body. RESULTS: By final review, mean intraocular pressure (IOP) had dropped by 50.3% from 31.4 +/- 8.8 mmHg before treatment to 15.6 +/- 6.3 mmHg (P < 0.0001). Thirty-seven of the 42 eyes (88.1%) achieved IOP < 22 mmHg. Thirty-five of the 42 eyes (83.3%) eyes achieved IOP reduction > or = 30% from baseline levels. The mean number of antiglaucoma medications per eye dropped from 2.55 +/- 0.83 to 1.71 +/- 1.44 (P = 0.0004). The percentage of eyes requiring oral acetazolamide dropped from 92.9% to 11.9% (P < 0.0001). About 59.6% of eyes required multiple treatment sessions (mean 2.17). Twenty-seven (64.3%) eyes suffered deterioration, 11 (26.2%) maintained stability and 4 (9.5%) exhibited improvement of visual acuity. No relationship between the number of treatment sessions and visual outcome was evident. CONCLUSIONS: This conservative repeatable protocol affords delivery of the minimum dose of photocoagulation necessary to achieve a safe, long-term ocular hypotensive response, while minimizing the risk of serious adverse effects, and is valuable in the difficult treatment of refractory glaucoma.


Subject(s)
Ciliary Body/surgery , Glaucoma, Open-Angle/surgery , Laser Coagulation/methods , Acetazolamide/therapeutic use , Adolescent , Adult , Aged , Aged, 80 and over , Carbonic Anhydrase Inhibitors/therapeutic use , Drug Utilization , Female , Glaucoma, Open-Angle/drug therapy , Glaucoma, Open-Angle/physiopathology , Humans , Intraocular Pressure/physiology , Male , Middle Aged , Retrospective Studies , Visual Acuity/physiology
3.
J Cataract Refract Surg ; 32(3): 468-74, 2006 Mar.
Article in English | MEDLINE | ID: mdl-16631060

ABSTRACT

PURPOSE: To evaluate the safety and efficacy of a single perioperative sub-Tenon's injection of triamcinolone following cataract surgery and its effect on the incidence of early pseudophakic cystoid macular edema (CME). SETTING: Ophthalmology Department, Queen's Medical Centre University Hospital, Nottingham. United Kingdom. METHODS: This prospective randomized controlled trial included 54 eyes (54 patients) having routine cataract surgery. Twenty-seven eyes received the conventional postoperative care with steroid drops (drops group), whereas the other 27 were given a perioperative sub-Tenon's injection of triamcinolone (injection group); 10 of these received 20 mg, and the remaining 17 eyes had 30 mg triamcinolone. All patients were evaluated preoperatively and at days 1, 8, 30, and 90. The outcome measures evaluated were logMAR best corrected visual acuity (BCVA), anterior chamber flare (Kowa-500 flare meter), intraocular pressure, and slitlamp biomicroscopy. Oral fluorescein angiograms were performed at 30 and 90 days to detect angiographic CME. RESULTS: The mean logMAR BCVA improved from a baseline of 0.38 +/- 0.38 (SD) and 0.44 +/- 0.26 to 0.02 +/- 0.14 and 0.0 +/- 0.07 at 90 days in the steroid drops and injection groups, respectively. (P = .59). The mean flare increased from a baseline of 8.9 +/- 3.2 photons/ms and 8.3 +/- 3.7 photons/ms in the steroid drops and injection groups, respectively, to a maximum of +/-14.1 photons/ms and 25.8 +/- 7.5 photons/ms at day 8. Mean flare decreased to 15.8 +/- 9.7 photons/ms and 13.8 +/- 10.1 photons/ms at 30 days (P = .48, difference between groups) and 10.4 +/- 3.6 photons/ms and 9.8 +/- 3.1 photons/ms at 90 days, respectively, in the 2 groups. Subanalysis revealed lowest peak flare (17.9 +/- 7.9 photons/ms) at 8 days in the group that received 30 mg triamcinolone. CONCLUSIONS: A single sub-Tenon's injection of 30 mg triamcinolone seem to be safe and effective as a route of steroid delivery after uneventful phacoemulsification surgery. Larger numbers in patients at high risk are required to assess its effectiveness in reducing the risk for pseudophakic CME.


Subject(s)
Betamethasone/analogs & derivatives , Glucocorticoids/administration & dosage , Macular Edema/prevention & control , Phacoemulsification , Postoperative Complications/prevention & control , Triamcinolone Acetonide/administration & dosage , Administration, Topical , Aged , Anterior Chamber/pathology , Betamethasone/administration & dosage , Connective Tissue/drug effects , Female , Fluorescein Angiography , Humans , Injections , Lens Implantation, Intraocular , Male , Perioperative Care , Prospective Studies , Visual Acuity
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