CHOROIDAL NEOVASCULARIZATION IN A CHILD WITH DOWN SYNDROME

Area of Science:

• Ophthalmology
• Genetics
• Medical Case Reports

Background:

• Down syndrome is associated with various ocular abnormalities.
• High myopia is a common refractive error in individuals with Down syndrome.
• Choroidal neovascularization (CNV) is a significant cause of vision loss.

Purpose of the Study:

• To report a case of Down syndrome presenting with myopic choroidal neovascularization (CNV).
• To describe the diagnostic findings and treatment outcome for this rare condition.

Main Methods:

• A case report detailing a 12-year-old boy with Down syndrome and decreased visual acuity.
• Diagnostic tools included fundus examination, optical coherence tomography (OCT), OCT angiography, and fluorescein angiography.
• Treatment involved intravitreal ranibizumab injections.

Main Results:

• The patient presented with high myopia (-8.00 D in the left eye) and macular degeneration.
• OCT and angiography confirmed choroidal neovascularization (CNV) with edema in the left macula.
• Following two intravitreal ranibizumab injections, visual acuity in the left eye was maintained at 0.1.

Conclusions:

• Choroidal neovascularization (CNV) and macular degeneration can occur in Down syndrome, potentially linked to high myopia and abnormal choroidal structure.
• Regular fundus examinations and OCT are crucial for early detection and management of CNV in children with Down syndrome.