Retinal vascular anomaly in sturge-weber syndrome.

PURPOSE: We report a unique case of a 7-year-old girl who presented with an unusual combination of findings, including facial hemangioma, choroidal hemangioma, and retinal vascular anomaly.

METHODS

Case report and literature review.

RESULTS

Examination revealed a hemangioma on the right midface. The acuity was 20/200 in the affected eye. Enlarged episcleral vessels were present. There was a large choroidal hemangioma measuring 4.8 mm in thickness underlying the macula and large dilated white retinal vessels extending to a partially involuted tumor in the periphery. Fluorescein angiography confirmed perfusion of the abnormal retinal vessels, and magnetic resonance imaging showed enhancement consistent with choroidal hemangioma with no other intracranial abnormalities. No other abnormalities were noted on physical examination.

CONCLUSION

Neurocutaneous syndromes including Sturge-Weber, Parkes Weber, and Klippel-Trenaunay may show significant degrees of overlapping findings. This case is unique in that this patient presented with both choroidal and retinal tumors as part of Sturge-Weber syndrome with a facial hemangioma.