Retinal cavernous hemangioma associated with cerebral cavernous malformations in a 6-year-old child

Retinal cavernous hemangioma associated with cerebral cavernous malformations in a 6-year-old childAn otherwise-healthy 6-year-old girl was referred to the retina service for evaluation of a left inferior retinal hemorrhage, initially suspicious for branch vascular occlusion.Fundus photography showed left inferior perivenous dilated saccular vascular lesions along the inferior arcade (Fig. A), which could mimic retinal hemorrhages.Fluorescein angiogram highlighted these lesions as saccular hyperfluorescent foci in the early phase (Fig. B), with no associated leakage in the late phase (Fig. C).The appearance on fundus photography and fluorescein angiography was characteristic of a retinal cavernous hemangioma.Given this diagnosis, magnetic resonance imaging of the brain was performed and revealed multiple T2 hypointense foci, consistent with cerebral cavernous malformations (Fig. D).The patient had no skin findings to suggest an oculoneurocutaneous syndrome.Further genetic testing for cerebral cavernous malformation genes is being considered.