A common variant near TGFBR3 is associated with primary open angle glaucoma.

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.

Patients' Acceptance of Glaucoma Therapy in Sub-Saharan Africa.

PURPOSE: To determine the frequency at which patients newly diagnosed with glaucoma in sub-Saharan Africa (SSA) decline recommended therapy and to characterize the reasons for declining therapy. METHODS: This was a multicenter, cross-sectional study conducted on adult patients at the time of glaucoma diagnosis at 27 centers in 10 countries in SSA. Data collected from the diagnostic encounter included demographics, clinical glaucoma characteristics, treatment recommendations, patient acceptance of therapy, and reasons for declining therapy. RESULTS: Among 2,282 eyes of 1,198 patients offered treatment for glaucoma, initially recommended treatment was accepted in 2,126 eyes (93.2%). Acceptance of therapy varied with the nature of treatment offered, with medical therapy accepted in 99.2% of eyes, laser therapy in 88.3%, and surgical therapy in 69.3%. The most common reasons cited for declining therapy were fear (42.9%) and cost (41.7%); cost was the primary reason for declining medical and laser therapy, while fear was the most common reason for declining surgical therapy. Most patients declining laser or surgical therapy accepted medical therapy as an alternate therapy (98.1%). CONCLUSIONS: Patients' acceptance of glaucoma therapy was high overall, but lower for surgery than for laser or medical therapy. Most patients who declined laser or surgical therapy accepted medical therapy as an alternate therapy when offered. Educational interventions, sustainable incentives, and other approaches are needed to enhance patient acceptance of glaucoma therapy in this setting, particularly surgery when needed.

Clinical Characteristics and Stage at Presentation of Glaucoma Patients in Sub-Saharan Africa.

PRCIS: The initial presentation of glaucoma varies meaningfully across SSA. A comprehensive strategy with regional customization based on local differences is needed to reduce glaucoma blindness in SSA. PURPOSE: To explore regional variations in the presentation of newly diagnosed glaucoma in Sub Saharan Africa (SSA). METHODOLOGY: This was a multicenter, cross-sectional study in which newly diagnosed, consecutive, glaucoma patients aged older than or equal to 18 years were recruited from 27 eye clinics in 10 countries throughout SSA. Demographic and ophthalmic examination data were collected. Glaucoma severity was based on optic nerve head and visual field assessment. Statistical analyses were performed using STATA version 14.0. RESULTS: Among 1214 enrolled patients with newly diagnosed glaucoma from Western, Eastern, and Southern Africa, the overall mean (SD) age was 59.9 (17.1) years. More than half of all patients (716/1178; 60.8%) presented with severe glaucoma in the worse eye, and one-third (36.9%) had severe glaucoma in both eyes. Primary open angle glaucoma was the commonest form of glaucoma in all regions (77.4%). A family history of blindness (260/1204, 21.6%) was common. Patients from Western Africa had lower mean presenting intraocular pressure (26.4 [11.1] mm Hg, P <0.001), but had worse glaucoma in the better eye based on mean cup-disc ratio (0.8; P <0.001) and mean visual field mean deviation [10.4 (8.4)] dB, P =0.016) compared with other regions. Exfoliation glaucoma was more common in Eastern Africa (30/170=17.7%, P <0.001) compared with other regions. CONCLUSION: The initial presentation of glaucoma varies meaningfully across SSA. A comprehensive strategy with regional customization based on local differences is needed to reduce glaucoma blindness in SSA.

APOSTEL 2.0 Recommendations for Reporting Quantitative Optical Coherence Tomography Studies.

OBJECTIVE: To update the consensus recommendations for reporting of quantitative optical coherence tomography (OCT) study results, thus revising the previously published Advised Protocol for OCT Study Terminology and Elements (APOSTEL) recommendations. METHODS: To identify studies reporting quantitative OCT results, we performed a PubMed search for the terms "quantitative" and "optical coherence tomography" from 2015 to 2017. Corresponding authors of the identified publications were invited to provide feedback on the initial APOSTEL recommendations via online surveys following the principle of a modified Delphi method. The results were evaluated and discussed by a panel of experts and changes to the initial recommendations were proposed. A final survey was recirculated among the corresponding authors to obtain a majority vote on the proposed changes. RESULTS: A total of 116 authors participated in the surveys, resulting in 15 suggestions, of which 12 were finally accepted and incorporated into an updated 9-point checklist. We harmonized the nomenclature of the outer retinal layers, added the exact area of measurement to the description of volume scans, and suggested reporting device-specific features. We advised to address potential bias in manual segmentation or manual correction of segmentation errors. References to specific reporting guidelines and room light conditions were removed. The participants' consensus with the recommendations increased from 80% for the previous APOSTEL version to greater than 90%. CONCLUSIONS: The modified Delphi method resulted in an expert-led guideline (evidence Class III; Grading of Recommendations, Assessment, Development and Evaluations [GRADE] criteria) concerning study protocol, acquisition device, acquisition settings, scanning protocol, funduscopic imaging, postacquisition data selection, postacquisition analysis, nomenclature and abbreviations, and statistical approach. It will be essential to update these recommendations to new research and practices regularly.

Screening for open angle glaucoma: systematic review of cost-effectiveness studies.

PURPOSE: To systematically review current evidence on the cost-effectiveness of screening strategies for open angle glaucoma (OAG). MATERIALS AND METHODS: Studies that reported both costs and outcomes of alternative screening strategies for OAG were identified by a highly sensitive search of electronic databases (eg, MEDLINE, EMBASE, NHS EED, HTA Database), last search December 2005. Data on costs regarding cases and years of visual impairment prevented, cases of blindness prevented, and cases of OAG detected were extracted. Incremental cost-effectiveness ratios were calculated using data provided in the included studies. RESULTS: Four studies met the inclusion criteria. The latest of these was published in 1997. The screening tests and treatments reported in these studies are now not considered to be best practice. Furthermore, data were not reported in sufficient detail to reinterpret the results of the studies in terms of a common outcome measure. Finally, these studies suffered from methodologic weaknesses that further limit their usefulness for decision making. CONCLUSIONS: Currently, there is insufficient economic evidence on which to base recommendations regarding screening for OAG. New technologies, potentially suitable as screening devices, and new treatments are available. Further research, both in terms of economic models and conduct of clinical trials with concurrent economic evaluation, may help inform policy makers regarding cost-effectiveness and acceptability of screening for OAG.