CHOROIDAL NEOVASCULARIZATION IN A CHILD WITH DOWN SYNDROME

Abstract

Purpose: To report a case of Down syndrome with myopic choroidal neovascularization (CNV) and the treatment outcome. Methods: Case report. Main outcome measures include refractive error, fundus examination, optical coherence tomography (OCT), OCT angiography (OCTA), fluorescein angiography (FA), anti-vascular endothelial growth factor (VEGF) injections. Results: A 12-year-old boy with Down syndrome presented at a regular check-up with decreased visual acuity (VA) with macular degeneration in the left eye. The best-corrected VA was 0.6 in the right eye and 0.1 in the left eye, which decreased from 0.3 1 year ago. The refractive error (spherical equivalent) was -5.25 diopters (D) in the right eye and -8.00 D in the left eye. Detailed examinations were performed under general anesthesia. The fundus examination showed macular degeneration with retinal pigment epithelium (RPE) atrophy, pigmentary changes, and fibrous tissue in the left eye. OCT showed CNV at the macula with edema, and OCTA showed spreading CNV above the RPE at the macula in the left eye. FA showed hyperfluorescence in the early phase and late dye leakage from the CNV. Intravitreal ranibizumab injections were administered twice within 2 months, and he maintained a VA of 0.1 in the left eye. Conclusion: CNV and associated macular degeneration may occur in Down syndrome with high myopia possibly because of the abnormal choroidal structure. In children with Down syndrome, regular fundus examinations with OCT are important for early detection and treatment of CNV.