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Institution: Eleta Eye Institute, Ibadan, Nigeria<\/p>\n
Project Affiliation: Eyes of Africa: The Genetics of Blindness<\/p>\n
Abstract<\/p>\n
Introduction\/Background
\nA recently qualified Nigerian Ophthalmologist, my interest in genetics was piqued and nurtured by my mentors and participating in subject recruitment for the Eyes of Africa-The Genetics of Blindness project at my training institution, University College Hospital,(UCH), Ibadan. This culminated in my postgraduate thesis presented here. There is paucity of this data in this setting.<\/p>\n
Objective\/Motivation
\nTo determine the burden, manifestations, and parental willingness for genetic testing for paediatric genetic eye diseases at UCH,Ibadan, to provide further evidence for planning of ophthalmic genetics services in Nigeria.<\/p>\n
Methodology\/Skill sets
\nThis hospital-based, cross-sectional study involved consecutive recruitment of new and follow-up paediatric eye clinic patients. Pedigree charting and comprehensive ocular and systemic examinations were performed for those with genetic eye diseases, and a questionnaire on willingness to test administered to parents. Summary statistics were calculated, and bivariate and multivariate analyses performed to evaluate determinants of parental willingness to test (p80%) willing to test given different scenarios. All would also test if free, while 37 (88%) would pay out of pocket. There was no statistically significant determinant of willingness to test. This study demonstrated a significant burden, a wide range of paediatric genetic eye diseases and a high rate of parental willingness for testing – useful evidence for planning ophthalmic genetics services. This work has been successfully defended with the award of Fellowship of the West African College of Surgeons (FWACS).<\/p>\n
Acknowledgements\/Mentors\/Influencers
\nMentors\/teachers: Professor A.Ashaye(P.I.), Professor A.Baiyeroju, Professor C.Bekibele, Professor T.Oluleye, Dr. O.Olawoye, Professor B. Olusanya, Dr. M.Ugalahi, Dr. T.Sarimiye.
\nDepartment of Ophthalmology, UCH, Ibadan
\nEyes of Africa Team
\nH3Africa Consortium<\/p>\n
Next steps
\nOphthalmic genetics fellowship to acquire specialised clinical\/research skills to evaluate, manage and improve outcomes for patients with genetic eye diseases in Africa, and contribute to capacity building
\nCollaborations\/networks<\/p>\n
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