Peer-reviewed article
CHOROIDAL NEOVASCULARIZATION IN A CHILD WITH DOWN SYNDROME.
Morikawa H, Yoshida T, Kashizuka E, Hayashi S, Yokoi T et al. ·
Summary
Written by AI, not yet AICS's view · claude-haiku-4-5-20251001This is a medical case report describing choroidal neovascularization (a eye disease involving abnormal blood vessel growth) in a single 12-year-old boy with Down syndrome. The child presented with decreased vision in one eye and was treated with anti-vascular endothelial growth factor injections. The report suggests that children with Down syndrome and high myopia may be at risk for this eye condition and recommends regular eye examinations.
Key points
- A 12-year-old with Down syndrome developed choroidal neovascularization with macular degeneration in the left eye
- Visual acuity declined from 0.3 to 0.1 in the left eye over one year
- Treatment with intravitreal ranibizumab injections (twice in 2 months) maintained visual acuity at 0.1
- The condition may be associated with abnormal choroidal structure in Down syndrome with high myopia
- Regular fundus examinations with optical coherence tomography are recommended for early detection
Limitations
This is a single case report of one child, so it cannot establish how common this condition is in children with Down syndrome or provide evidence about treatment effectiveness across populations. The study does not compare outcomes with other treatments or include a control group.
Abstract
Purpose The aim of this study was 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 angiography, fluorescein angiography, and anti-vascular endothelial growth factor injections. Results 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. 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 optical coherence tomography are important for early detection and treatment of CNV.