Presentation of retinoblastoma at a paediatric eye clinic in Ghana

Background: Retinobalstoma, the commonest childhood malignant intraocular tumour, is usually diagnosed early with over 90% survival rate indeveloped 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 usingReese-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(„b22.15) and median (36 months). Nineteen (82.6%) hadunilateral 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%) withorbital recurrence and 1(4.3%) with post-enucleation anophthalmos. HHRFs were present in 9(75%) enucleated eyes with invasion of optic nerve as thecommonest 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 bonemarrow, brain and orbit.Conclusion: Majority of the patients presented with advanced disease manifesting as leukocoria, proptosis, RE stages V disease and poor outcome

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations

Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide efforts to elucidate the genetic complexity of POAG in African populations has been limited. We conducted a genome-wide association study in 1113 POAG cases and 1826 controls from Tanzanian, South African and African American study samples. Apart from confirming evidence of association at TXNRD2 (rs16984299; OR[T] 1.20; P = 0.003), we found that a genetic risk score combining the effects of the 15 previously reported POAG loci was significantly associated with POAG in our samples (OR 1.56; 95% CI 1.26–1.93; P = 4.79 × 10−5). By genome-wide association testing we identified a novel candidate locus, rs141186647, harboring EXOC4 (OR[A] 0.48; P = 3.75 × 10−8), a gene transcribing a component of the exocyst complex involved in vesicle transport. The low frequency and high degree of genetic heterogeneity at this region hampered validation of this finding in predominantly West-African replication sets. Our results suggest that established genetic risk factors play a role in African POAG, however, they do not explain the higher disease load. The high heterogeneity within Africans remains a challenge to identify the genetic commonalities for POAG in this ethnicity, and demands studies of extremely large size

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 previously unreported risk loci and confirming 83 loci that were previously known. The majority of loci have broadly consistent effects across European, Asian and African ancestries. Cross-ancestry data improve fine-mapping of causal variants for several loci. Integration of multiple lines of genetic evidence support the functional relevance of the identified POAG risk loci and highlight potential contributions of several genes to POAG pathogenesis, including SVEP1, RERE, VCAM1, ZNF638, CLIC5, SLC2A12, YAP1, MXRA5, and SMAD6. Several drug compounds targeting POAG risk genes may be potential glaucoma therapeutic candidates. Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities

Scleral buckle surgery in Ghana: a decade comparison of the anatomic and visual outcome

Imoro Z Braimah,1,2 Stephen Akafo,1,2 Jay Chhablani3 1Department of Surgery, School of Medicine and Dentistry, College of Health Sciences, University of Ghana, Accra, Ghana; 2Eye Centre, Korle Bu Teaching Hospital, Accra, Ghana; 3Srimati Kanuri Santhamma Centre for Vitreo-Retinal Diseases, KAR Campus, L V Prasad Eye Institute, Hyderabad, Telangana, India Purpose: To compare the anatomic and visual outcome of scleral buckle (SB) surgery in Korle Bu Teaching Hospital between 2002 and 2005 and 2011 and 2014. Materials and methods: In this retrospective comparative study, the medical records of patients who have undergone SB for rhegmatogenous retinal detachment from January 2002 to December 2005 (group A) and from January 2011 to December 2014 (group B) in Korle Bu Teaching Hospital were examined. The clinical history, surgical techniques, and outcomes of treatment were analyzed. The main outcome measures were primary anatomic success (retina reattached for at least 3 months postoperatively after a single procedure), overall anatomic success (combined primary anatomic success and success following revision of SB with at least 3 months follow-up), mean postoperative best-corrected visual acuity (BCVA), and complications. Results: One hundred fifty-eight eyes (71 eyes in group A and 87 eyes in group B) were treated with SB in this study. The mean duration of rhegmatogenous retinal detachment was 105.5 days. Thirty-four (21.8%) of fellow eyes had BCVA worse than 6/60 at presentation. The primary anatomic success was comparable between the two groups; 70% in group A and 67.9% in group B (P=0.79). The overall anatomic success was also comparable between the two groups (76.7% in group A vs 79.8% in group B) (P=0.788). The mean postoperative BCVA in logMAR was significantly better than the mean preoperative BCVA (P<0.0001). Group B had significantly better mean BCVA (P=0.002) and longer duration of follow-up (P<0.0001) compared with group A at the last follow-up visit. Conclusion: The anatomic success of SB between the two time periods was comparable. A longer postoperative duration of follow-up was associated with a better visual outcome after SB. Keywords: rhegmatogenous retinal detachment, scleral buckle surgery, laser retinopexy, cryotherapy, Ghan

Genome-Wide linkage scan for primary open angle glaucoma: Influences of ancestry and age at diagnosis

10.1371/journal.pone.0021967PLoS ONE67e2196

Comparison of the Morphology of the Foveal Pit Between African and Caucasian Populations

Purpose: The purpose of this study was to characterize foveal pit morphology in an African (Ghanaian) population, to compare it to that of a Caucasian group and to determine if it varied with age in the two populations.Methods: The depth, diameter, slope, and volume of the foveal pit were interpolated from optical coherence tomography volume scans recorded in 84 Ghanaian and 37 Caucasian individuals. Their association with age, sex, and ethnicity was investigated using multilevel regression models.Results: The foveal pit differed significantly in width, slope, and volume between Ghanaian men and women (P < 0.001), but only in width and volume between Caucasian men and women (P < 0.01). In Ghanaians, age was associated with a narrowing of the foveal depression and a reduction of its volume. Overall, these changes were more pronounced in women as compared to men and were largely absent from the Caucasian group. When controlled for age, the foveal pit of Ghanaians was significantly wider and larger in volume as compared to the Caucasian group (P < 0.001).Conclusions: The morphology of the foveal pit differs between African and Caucasian individuals. These anatomic differences should be considered when examining differences in prevalence and clinical features of vitreoretinal disorders involving the fovea between the two populations.Translational Relevance: Differences in retinal anatomy may partly explain variations in the prevalence and clinical features of retinal diseases between African and Caucasian. Such differences should be adequately considered in diagnoses and monitoring of ocular diseases in patients with African ancestry