“…Therefore, deficiency in systemic angiogenesis can produce renal hypoplasia; disturb ureteric branching, morphogenesis and elongation; and perturb the microvessel density of the distal ureter and the angle of insertion of the ureter into the bladder, resulting in vesicoureteral reflux (VUR) [8,9]. Such shared angiogenic and tubular budding pathways provide mechanistic links that explain and predict various oculorenal disorders, such as von Hippel-Lindau disease and Down syndrome [10].…”
“…Therefore, deficiency in systemic angiogenesis can produce renal hypoplasia; disturb ureteric branching, morphogenesis and elongation; and perturb the microvessel density of the distal ureter and the angle of insertion of the ureter into the bladder, resulting in vesicoureteral reflux (VUR) [8,9]. Such shared angiogenic and tubular budding pathways provide mechanistic links that explain and predict various oculorenal disorders, such as von Hippel-Lindau disease and Down syndrome [10].…”
“…Despite the obvious ocular problems, in light of the unique challenges of retinal imaging in children, there are few reports on retinal structure in children with Down syndrome. We occasionally see case reports on Down syndrome children with bilateral macular coloboma [25], optic disc elevation, or other retinal abnormalities [26][27][28]. Although there are published reports discussing these issues, much of the current data are considerably variable.…”
On average, CST in the Down syndrome group was greater than that in the control group, suggesting abnormal macular development in children with Down syndrome.
“…Optic disc and optic disc vessels anomalies have been described in association with DS [10-12]. Number of retinal vessels crossing the disc optic margin in the patients with DS is increased (40%) when compared to a normal population (6%) [10].…”
BackgroundThis case is unique because it is the first reported case of Down syndrome with morning glory optic disc anomaly in literature.Case presentationA 15-year-old girl with features of Down syndrome presented to the Clinic of Ophthalmology for a regular ophthalmologic examination. Her best corrected visual acuity was 20/50 in the right eye and 20/20 in the left eye. The fundus examination revealed findings compatible with unilateral morning glory optic disc anomaly in the right eye. The patient underwent a complete ophthalmologic and systemic evaluation to explore possible associated findings.ConclusionThis case report emphasizes the importance of ophthalmic screening-examinations in Down children to rule out any vision relevant pathology.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.