CHOROIDAL NEOVASCULARIZATION IN A CHILD WITH DOWN SYNDROME

The aim of this study was to report a case of Down syndrome with myopic choroidal neovascularization (CNV) and the treatment outcome.

Case report: Main outcome measures include refractive error, fundus examination, optical coherence tomography, OCT angiography, fluorescein angiography, and anti-vascular endothelial growth factor injections.

A 12-year-old boy with Down syndrome presented at a regular checkup with decreased visual acuity with macular degeneration in the left eye. The best-corrected visual acuity was 0.6 in the right eye and 0.1 in the left eye, which decreased from 0.3 one 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 atrophy, pigmentary changes, and fibrous tissue in the left eye. Optical coherence tomography showed CNV at the macula with edema, and OCT angiography showed spreading CNV above the retinal pigment epithelium at the macula in the left eye. Fluorescein angiography 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 visual acuity of 0.1 in the left eye.

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 optical coherence tomography are important for early detection and treatment of CNV.