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Show Journal of Neuro- Ophthalmology 20( 1): 3- 4, 2000. i 2000 Lippincott Williams & Wilkins, Inc., Philadelphia Optic Nerve Head Hemangioma Andrew G. Lee, MD A 5- year- old girl experienced " sensitivity to light" in the right eye. Family history was significant for early onset hypertension in her father at age 31 years and an early death caused by a massive intracerebellar hematoma. Visual acuity was 20/ 100 OD and 20/ 20 OS. Ophthalmoscopy revealed an epipapillary optic disc head hemangioma extending into the papillomacular bundle OD, with some macular and peripapillary hard exudate ( Fig. 1). A fluorescein angiogram revealed leakage from the optic disc hemangioma ( Fig. 2). There was also a small angioma near the optic disc OS. These findings Manuscript received October 8, 1999; accepted October 20, 1999. From the Department of Ophthalmology, Baylor College of Medicine, Houston, Texas. Dr. Lee is now with the Department of Ophthalmology, The University of Iowa Hospital and Clinics, Iowa City, Iowa. Address correspondence to Andrew G. Lee, MD, 200 Hawkins Drive, University of Iowa Department of Ophthalmology, Iowa City, IA 52242. were consistent with the diagnosis of von Hippel- Lindau disease. Results of magnetic resonance imaging of the head were negative. The classic clinical features of von Hippel- Lindau ( VHL) disease are hemangioma of the retina and heman-gioblastoma of the cerebellum. Other features include pheochromocytoma, hypernephroma, polycythemia, hemangiomas of the spinal cord, adrenals, lungs, and liver, and multiple cysts of the pancreas and kidneys. All patients with a presumed isolated retinal angioma, cerebellar hemangioblastoma, renal cyst or renal cell carcinoma, or pheochromocytoma should be evaluated for VHL. Von Hippel- Lindau disease is an autosomal-dominant disorder with incomplete penetrance resulting from a defect in a tumor- suppressor gene on chromosome 3. The presenting sign of VHL may be a retinal angioma ( 43%), hemangioblastoma ( 39%), or renal cell carcinoma ( 10%). Although the retinal angioma is the classic ocular lesion of VHL, capillary angiomas of the optic disc may occur, as in this case. These lesions may FIG. 1. Vascular reddish tumor consistent with an optic disc head hemangioma extending into the papillomacular bundle of the right eye, with some macular and peripapillary hard exudate. 3 A. G. LEE i: " i Hi :!• i • J « < iif FIG. 2. A fluorescein angiogram revealed leakage from the optic disc hemangioma. be endophytic ( circular, reddish, elevated mass obscuring the normal optic disc vessels) or exophytic ( elevated disc margin with an associated serous detachment and intraretinal lipid). Retinal angiomas may be treated with photocoagulation or cryotherapy, if symptomatic. Unfortunately, optic disc angiomas are more difficult to treat and often slowly enlarge, with eventual visual loss, retinal exudation, retinal detachment, and secondary neovas-cular glaucoma. Cerebellar hemangioblastoms require surgical removal with or without radiotherapy. Pancreatic, liver, and kidney cysts may not require any treatment, if asymptomatic. REFERENCES 1. Selhorst JB. Phacomatoses. In: Miller NR, Newman NJ, eds. Walsh and Hoyt's clinical neuro- ophthalmology. 5th ed. Baltimore: Williams and Wilkins, 1998: 2696- 707. J Neuro- Ophlhalmol, Vol. 20. No. 1, 2000 |
