An 18-year-old woman presented with a 2-month history of visual loss in the right eye. Visual acuity was 20/100 in the affected eye and 20/20 in the left eye.Ophthalmoscopy revealed an orange–yellow tumor (Panel A, arrow) with tortuous feeding vessels and optic-disk edema (Panel A, arrowhead), indicating retinal hemangioblastoma. The patient underwent ruthenium plaque radiotherapy, cryotherapy, and photodynamic therapy, which induced complete tumor regression and sclerosis of the dilated vessels (Panel B).
After treatment, the visual acuity improved, to 20/70. A systemic evaluation, including magnetic resonance imaging of the brain, computed tomography of the abdomen, and measurement of urinary vanillylmandelic acid levels, was unremarkable. However, genetic studies revealed a mutation in the von Hippel–Lindau tumor-suppressor gene VHL, confirming von Hippel–Lindau disease.
Visual disturbance caused by exudation or retinal detachment due to retinal hemangioblastoma may be the initial symptom of von Hippel–Lindau disease. Thorough, systemic evaluation is important to detect potential tumors of the central nervous system, adrenal glands, kidneys, and pancreas early enough to permit treatment.