OCR Text |
Show ) aunml of Natra- OiihUtatmotaxy J50J: 176- 177, 1935. © 1995 Lippincott- Raven Publishers, Philadelphia Feature Photo Bilateral Disc Edema in an Adolescent Girl Gregory S. Kosmorsky, D. O., Robert E. Foster, M. D., and Brian D. Ellis, M. D. FIG. 1. Fundus photograph of right eye, demonstrating bilateral disc edema with peripapillary hemorrhages. A 15- year- old, 160- pound, Caucasian girl noted the sudden, painless onset of a " spot" in her left eye. She was evaluated by a neurologist who diagnosed " papilledema." MRI scanning of the head was normal. Lumbar puncture revealed an opening pressure of 200 mm H20 with normal cerebrospinal fluid constituents. The patient denied vita- Manuscript received June 6, 1994. From the Division of Ophthalmology, Cleveland Clinic Foundation, Cleveland, Ohio, U. S. A. Address correspondence and reprint requests to Dr. Gregory S. Kosmorsky, Division of Ophthalmology. 9500 Euclid Avenue, Cleveland, OH 44106, U. S. A. FIG. 2. Fundus photograph of left eye, showing bilateral disc edema with peripapillary hemorrhages, min use, antibiotic use, or liver ingestion. The diagnosis of pseudotumor cerebri was made, and she as referred to ophthalmology for further evaluation. On eye examination, the visual acuities were 20/ 20 OD and 20/ 20 OS. There was no relative afferent pupillary defect. Humphrey visual field was normal OD. An enlarged blind spot was noted OS. Her fundus examination was remarkable for bilateral disc edema with unusual disc contours { Figs. 1 and 2). An intravenous fluorescein angiogram showed focal hyperfluorescence of both optic nerve heads in a lobular pattern ( Figs. 3 and 4). Examination of the patient's father was remark- 176 BILATERAL DISC EDEMA 177 FIG. 3. Late pnase of tine lluorescein angiogram of the right eye. Note the lobular staining patterns of the discs here and in Fig. 4. FIG. 5. Fundus examination of the patient's father revealed a peripheral retinal capillary hemangioma. able tor a retinal capillary hemangioma characteristic of von Hippel- Lindau disease ( Fig. 5). COMMENT von Hippel- Lindau disease is a phakomatosis characterized by autosomal dominant inheritance FiG. A. Early venous phase of the lett eye. See Fig. 3. with variable penetrance. This familial cancer syndrome reflects loss of function of the 3p25- 26 region ( 1). Penetrance is dependent on age, with the onset typically being in the second and third decade. While retinal angiomatosis is the most common presenting feature, other findings can include cerebellar and spinal hemangioblasromas, renal cell carcinomas, pheochromocytomas, and renal, epididymal, and pancreatic cysts. Cerebellar he-ma ngiobiasto ma and renal cell carcinoma represent the most common causes of death ( 2). Schindler and colleagues ( 3) described 65 patients with hemangiomas of the optic disc ( 10 cavernous, 55 capillary): 53% of the patients presented with visual loss, while 30% were found on routine eye examination. These retinal tumors may be either the endophytic type ( most common) and grow toward the vitreous, or the exophytic type as seen in this case. REFERENCES 1. Lntif F, Tory K, Gna'rra J, et al. Icientification of the von Hippel- Lindau disease tumor suppressor gent1. Sciifux 1993; 260: 1317- 20. 2. Hardwig P, Robertson DM. von Hippel- Lindau disease: a familial, often lethal, multi- system phakomatosis. Ophthal-w<% i/ 1984; 91: 263- 70. 3. Schindler RF, Sarin LK, MacDonald PR. Hemangiomas ol the optic disc. Can j Ophthtilwol 1975; 10: 305- 18. / NawtirOjilttlMlnml, Vul. 15, No. .3, I39& |