Sara Abdullah S Aledaili, Muradi H AlGryis, Noura S AlGrwan, Reem S AlShammari and Jluwi S AlMasaud
University of Hail, Saudi Arabia
Introduction: Ocular coloboma is a rare congenital anomaly began by defective embryogenesis, when pair of shallow grooves appears on each side of the invaginating forebrain and an error in the fetal fissure closure ends with persistent cleft. Colobomas are generally accompanying by visual loss that could need some treatment and intervention other than amblyopia management.
Case report: A 20-year-old male with painless and progressive decreased vision in the right eye for 2 months. Antenatal history discovered that his mother was exposed to x-ray in 1st trimester. Ocular examination revealed visual acuity of 20/200 in the right eye & hand motion in the left amblyopic eye. Furthermore, the ocular examination showed iris coloboma in the inferior nasal quadrant OU also optic disc, retina and choroid coloboma OU with juxtapapillary choroidal neovascularization membrane (CNVM) in the right eye.
Discussion: Ocular coloboma is a rare congenital anomaly that has a prevalence of around 0.14% in the general population. Coloboma causes are varies from genetic and non-genetic factors. We believe that it is unlikely to be of genetic because neither one of the parents nor siblings of our patient had the same condition so we believed that antenatal exposure of x-ray is the cause as the history given. Our patient presents with bilateral iris, optic disc and retinochoroidal and right CNVM in juxtapapillary area that cause the decreased of vision accordingly we decide to treat him with anti-VEGF which resulted in regression of the CNVM and improvement of visual acuity.
Conclusion: To our knowledge this is the first case of coloboma reported in northern region in Saudi Arabia and the causative factor is antenatal exposure to x-ray. As we recommend lifelong follow up for coloboma cases we recommend more studies to be done in our population to estimate better understanding of Ocular coloboma prevalence, causes and management.
Sara Abdullah S Aledaili is a student at the College of Medicine, University of Hail (UOH). She published one research article and she is interested in research and working on 2 research projects at the moment.