Exfoliation syndrome (XFS) is the commonest known risk factor for secondary glaucoma and a significant cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A have been previously associated with XFS. To further elucidate the genetic basis of XFS, we collected a global sample of XFS cases to refine the association at LOXL1, which previously showed inconsistent results between populations, and to identify new variants associated with XFS. We identified a rare, protective allele at LOXL1 (p.407Phe, OR = 25, P =2.9 × 10−14) through deep resequencing of XFS cases and controls from 9 countries. This variant results in increased cellular adhesion strength compared to the wild-type (p.407Tyr) allele. A genome-wide association study (GWAS) of XFS cases and controls from 24 countries followed by replication in 18 countries identified seven genome-wide significant loci (P < 5 × 10−8). Index variants at the new loci map to chromosomes 13q12 (POMP), 11q23.3 (TMEM136), 6p21 (AGPAT1), 3p24 (RBMS3) and 5q23 (near SEMA6A). These findings provide biological insights into the pathology of XFS, and highlight a potential role for naturally occurring rare LOXL1 variants in disease biology.

Awareness, knowledge, beliefs and the sociocultural and religious practices, are believed to influence the treatment-seeking behavior of people as well as their uptake of services. This study was carried out to assess the awareness and knowledge about glaucoma, and the attitude to glaucoma screening in Nchokko village in Igbeagu community, Izzi Local Government Area, Ebonyi State, Nigeria. This was a cross-sectional descriptive study. Data were collected using an interviewer-administered questionnaire and analyzed using SPSS 22. Results show that a total of 402 respondents-228 (56.7%) women and 174 (43.3%) men-were interviewed. The mean age of respondents was 31.7 ± 11.9 years; 82.8% of the respondents had secondary education or less; 53% were married; and 38.1% were farmers. Only 21.1% of the respondents were aware of glaucoma. Gender, education, and positive family history were significantly associated with awareness. Only 6.3% of the respondents had good knowledge about the disease. A large proportion of respondents (62.1%) exhibited a positive attitude towards glaucoma screening; however, only 5% had ever undergone glaucoma screening. We conclude that glaucoma awareness and knowledge were poor in this rural community, but a high proportion of respondents had a positive attitude towards glaucoma screening. We therefore recommend a focused community health education campaign that will raise awareness and impart adequate knowledge about glaucoma. Eye care providers should make use of every opportunity to convey information on glaucoma to patients.

AimThe aim of this study was to determine the level of awareness and knowledge of glaucoma and the proportion of people with glaucoma among participants of a 1-day urban eye outreach programme.MethodsThe study was a cross-sectional survey. Data, collected by means of a structured questionnaire, included participants' demographic details, and awareness, knowledge and ocular status as regards glaucoma. Publicity for the outreach was created through the mass media (radio stations and television), churches, handbills, posters and different hospital staff. Data analysis was by Statistical Package for Social SciencesV.20.0. Associations between participants' demographic and other details were tested using Pearson's χ2 test, and a p value of <0.05 was considered significant.ResultsFour hundred and seventy-eight (93.2%) of the 513 people in attendance were eligible and consented to participate. Awareness, knowledge and proportion of people with glaucoma in the study population were 65.5%, 36.8% and 14.5%, respectively. Awareness was significantly associated with attainment of some formal education, awareness of a positive family history, and having had an eye check prior to the outreach. The mass media was the most common information source. Good knowledge level was significantly associated with higher educational attainment and occupation, whereas proportion of people with glaucoma was significantly associated with increasing age.ConclusionImproving awareness with suitable content for the target population through effective means such as the mass media may be a veritable first step in combating blindness from glaucoma.

Asian ancestry. Despite this, individuals of African ancestry remain understudied in genomic research for blinding disorders. OBJECTIVES To perform a genome-wide association study (GWAS) of African ancestry populations and evaluate potential mechanisms of pathogenesis for loci associated with primary open-angle glaucoma. DESIGN, SETTINGS, AND PARTICIPANTS A 2-stage GWAS with a discovery data set of 2320 individuals with primary open-angle glaucoma and 2121 control individuals without primary open-angle glaucoma. The validation stage included an additional 6937 affected individuals and 14 917 unaffected individuals using multicenter clinic-and population-based participant recruitment approaches. Study participants were recruited from

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