POAG genetic susceptibility alleles associated in Caucasians appear to play a greatly reduced role in populations of African ancestry. Thus, the major genetic components of POAG of African origin remain to be identified. This finding underscores the critical need to pursue large-scale genome-wide association studies in this understudied, yet disproportionately affected population.

There was no association between SNPs in the LOXL1 gene and POAG. This is the first analysis of the LOXL1 gene in African-American and West-African populations. LOXL1 gene variants do not appear to play a significant role in the pathogenesis of POAG in populations of either Caucasian or West-African ancestry.

SUMMARYBackground: Retinobalstoma, the commonest childhood malignant intraocular tumour, is usually diagnosed early with over 90% survival rate in developed countries. In developing countries, the diagnosis is late resulting in less than 50% survival. Objective: To determine retinoblastoma stages at presentation and patients' outcomes. Design: Retrospective case series. Methods:The clinical and histopathological records of children with retinoblastoma seen from May 2004 to December 2005 were studied. Data was analysed for mode of presentation, laterality, clinical staging using Reese-Ellsworth (R-E) classification, histopathological high risk features (HHRF) for metastasis, and patient outcome. Setting: Ophthalmology Unit, Korle-Bu Teaching Hospital, Ghana. Results: Twenty-three patients presented with retinoblastoma over the period. Males were 12(52.2%). The age range from 1 to 84 months, mean 36.3(22.15) and median (36 months). Nineteen (82.6%) had unilateral and 4(17.4%) bilateral disease. The common clinical presentations were leukocoria in 20(87.0%), proptosis 8(34.8%), strabismus 5(21.7%) and red eye 5(21.7%). The clinical features were commensurate with R-E stage V in 20(87.0%) patients, 2(8.7%) with orbital recurrence and 1(4.3%) with post-enucleation anophthalmos. HHRFs were present in 9(75%) enucleated eyes with invasion of optic nerve as the commonest site (7/9). The patients were followed up for 1 day to 19 months. Eight abandoned treatment, 2 were discharged for palliative treatment, 2 out of 5 with metastasis died and 6 had no metastases at their last visit. Common sites for metastasis were the bone marrow, brain and orbit. Conclusion: Majority of the patients presented with advanced disease manifesting as leukocoria, proptosis, RE stages V disease and poor outcome.

The strong signal on chromosome 5 lies in the region in which a novel gene, WDR36, in the GLC1G locus was recently identified as causative for adult-onset primary open-angle glaucoma and provides additional evidence that chromosome 5 contains susceptibility loci for glaucoma in multiple human populations. The evidence provided in this study is particularly important given the evolutionary history of these West African populations and the recent ancestral relationship to African Americans-a population with one of the highest rates of diabetes and associated complications (including glaucoma) in the world.