Journal of Neuro-Ophthalmology, March 1983, Volume 3, Issue 1

The Wyburn-Mason syndrome. Concomitant chiasmal and fundus vascular malformations.

We report a 56-year-old female with a 50-year history of a progressive chiasmal syndrome who was found to have a suprasellar arteriovenous malformation involving the chiasm and both optic nerves associated with an unusual fundus picture consistent with the Wyburn-Mason syndrome. A review of the literature of this rare syndrome is also presented.

]. CJin. Neuro-ophthalmol. 3: 53-62, 1983. The Wyburn-Mason Syndrome Concomitant Chiasmal and Fundus Vascular Malformations GARY HOPEN, M.D. J. LAWTON SMITH, M.D. JULIAN T. HOFF, M.D. ROBERT QUENCER, M.D. Abstract We report a 56-year-old female with a 50-year history of a progressive chiasmal syndrome who was found to have a suprasellar arteriovenous malformation involv­ing the chiasm and both optic nerves associated with an unusual fundus picture consistent with the Wyburn-Mason syndrome. A review of the literature of this rare syndrome is also presented. Introduction The coexistence of arteriovenous malformations of the fundus and brain is known as the Wyburn­Mason syndrome.! We recently evaluated a patient with a 50-year history of a progressive chiasmal syndrome secondary to a suprasellar arteriovenous malformation involving the chiasm and intracranial optic nerves, associated with an unusual fundus picture consistent with the Wybum-Mason syn­drome. Case Report A 56-year-old, right-handed white woman was referred to the Bascom Palmer Eye Institute with a complaint of loss of the temporal visual field in her right eye. Her history was particularly interesting­for as long as she could remember she was only able to see "half of objects" with the left eye. However, the left eye vision became progressively worse, so that she eventually lost all light percep­tion in that eye between 20 and 30 years of age. She had no problems with the right eye to her knowledge for the next 25 years. Approximately 8 years prior to presentation, her From the Bascom Palmer Eye Institute, Department of Oph­thalmology (GH,JLS), University of Miami; Department of Ra­diology (RQ), University of Miami School of Medicine, Miami. Florida; and the Department of Neurosurgery (JTF), University of Michigan, Ann Arbor, Michigan. March 1983 visual field was checked during a driver's license examination, and she was found to have some difficulty in the right temporal field. She was not aware of any change in the field thereafter until approximately 6 months prior to presentation. The patient then noted that she was missing objects in the right temporal field that she would normally have seen. Of interest was a history of severe vascular headaches since childhood that centered over the left eye and gradually lessened in severity and frequency as she became older. Except for a 40-lb. weight loss without a change in eating habits during the past 2 years, she has had no other complaints. Family history revealed that one daughter was operated for a pituitary tumor at age 26 and another daughter had a suboccipital mass excised at 1 year of age, but was doing well other­wise at age 31. The family history was otherwise negative for vascular headaches, aneurysms, or subarachnoid hemorrhages. The patient presented to an ophthalmologist for the first time in her life in March 1982, and a temporal field defect was found in her right eye. A computed tomographic scan was obtained, and she was referred to the Neurosurgical Service at the University of Michigan, where a transfemoral se­lective arteriogram was performed. Neuro-ophthalmological examination in Miami on August 26, 1982, revealed that the best-cor­rected acuity was 20/15+1 and I-I in the right eye and no light perception in the left eye. The right pupil reacted crisply to light, and the left pupil was amaurotic. Perimetry demonstrated a dense tem­poral hemianopia in the right eye (Fig. 1). Ocular motility was full. The patient had slow vertical ocular pendular oscillations of the left eye that were classic for the Heimann-Bielschowsky phe­nomenon. 2 Slit lamp examination was normal, but for subtle, slightly dilated vessels on the plica, caruncle, and bulbar conjunctiva of both eyes. No ocular or cranial bruits were heard. Ophthalmos­copy revealed a normal fundus in the right eye (Fig. 2). The left fundus, however, was strikingly abnormal (Fig. 3). The left disc was pale, elevated, 53 Wyburn-Mason Syndrome L.E. R.E. Figure 1. Peripheral Visual field (3/330 white) showing temporal hemianopic defect in right eve Figure 2. Right eye. normal fundus. blurred, and showed an optociliary shunt vessel at 5 o'clock (Fig. 4). The retinal arteries were narrow in that eye; however, the veins were distended, tortuous, and had a striking white appearance to them (Fig. 5). The peripheral retina was avascular 54 Figure 3. Left fundus is markedly abnormal with pale. elevated disc, arterial narrowing. and dilated, sclerosed retinal veins. with thinning of the retinal pigment epithelium. There was peripapillary pigment migration into the retina. Fluorescein angiography demonstrated delayed filling of the retinal blood vessels with leakage and Journal of Clinical Neuro-ophthalmology Figure 4. Close-up of optociliary shunt vessel (arrow) of left disc. Figure 5. Abnormal tortuous, dilated, white retinal veins. Ar­teries are narrow (arrowhead). (Figs. 3-5 were made without intravenous fluorescein.) staining of the vessels and optic disc. There was marked loss of capillarity and loss of all peripheral retinal vasculature. This was in striking contrast to the abnormal vessels on the nerve head (Figs. 6-8). The computed tomographic scan demonstrated an enhancing lesion involving the chiasm and ex­tending from the left to the right optic canal (Figs. 9 and 10). The transfemoral selective arteriogram March 1983 Hopen, Smith, Hoff, Quencer Figure 6. Fluorescein angiogram showing abnormal retinal ar­teries and veins. Note peripapillary retinal pigment epithelial changes. Figure 7. Fluorescein angiogram demonstrating capillary drop­out and late staining of disc and blood vessels. demonstrated a moderately small arteriovenous malformation arising from the supraclinoid por­tions of both carotids (Figs. 11-16). Discussion Arteriovenous communications of the retina are a rare disorder that was first described by Magnus3 55 Wyburn-Mason Syndrome Figure 8. Close-up of abnormal telangiectatic staining disc vessels. Figure 9. Post contrast axi.,1 CT SC.ln at the level l,f the suprasdl.H cistern demonstrating the drteril)Venl)US n)JlflHm.ltion .15 ..1 t..:"l1ntrJ.st cnh..\l1cing m.35S (arrow I to the left of midline. in 1874. The association of retinal arteriovenous communications with more extensive vascular mal­formations of the face and brain was first recog­nized as a clinical entity by Bonnet et al.I in 1937. This grouping was further characterized by Wyburn-Mason ' in 1943 and coexistent arterio­venous malformations of retina, optic nerve, and brain have since been referred to as the Wyburn- S6 Mason syndrome. The arteriovenous communica­tion represents a congenital abnormality that is not felt to be hereditary. Archer et al." divided retinal arteriovenous com­munications into three groups. Group 1 consists of those cases in which there is an arteriolar or ab­normal capillary plexus interposed between the artery and vein. These patients usually show no Journal of Clinical Neuro-ophthalmology Hopen, Smith, Hoff, Quencer Figure 10. Postcontrast axial CT scan of arteriovenous malformation (drrow) seen at the level of the optic chiasm. figure II. Lateral' vIew ot tile ngilt common Cdrotld drlenogram demonstrating a vasculdr mass (drrow) arising from the supraclinoid pl)rtion of the right cJrotid artery. signs of vascular decompensation, have normal vision, and are not associated with arteriovenous malformations of the face and brain. In group 2, there is a direct arteriovenous communication. A hyperdynamic flow pattern develops and may re­sult in alterations of the neighboring microvascu- March 1983 lature consisting of capillary non perfusion and mi­croaneurysms. There may be vascular decompen­sation ranging from mild edema to exudation and hemorrhage. This group is only rarely associated with cerebral vascular malformations. Only one patient from their series was categorized as belong- 57 Wyburn-Mason Syndrome Figure 12. Selective left lateral internal carotid injection demonstrates abnormal vascularity (arrowhead) in supraclinoid portion of the left internal carotid artery. Figun: IS. Lt'f[ po~[en(lr ,anterior common carotId drteriogrJn1 identifies multiple small reeder vessels arising from the supra­clinoid portion of the leit internal carotid artery to feed a highly vascular midline mass (arrowheads). 58 / ~igure 14. Left vertebral posterior anterior projection is normal. Journal of Clinical Neuro-ophthalmology March 1983 Hopen, Smith, Hoff, Quencer Figure 15. Capillary phase shows the arteriovenous malformation (arrow) draining into the basal vein of Rosenthal (white arrow). Figure 16. The arteriovenous malformation (white arrow) is seen draining into the basal vein of Rosenthal (black arrowheads) to the vein of G.Jlen (bl.Jck drrow) with subsequent drainage into the sigmoid sinus. 59 Wyburn-Mason Syndrome ing to group 3, which consists of large caliber intertwined anastomosing channels in which it is difficult to distinguish the artery from the vein. These vessels undergo sheathing and sclerosis, and the retina may show exudation, hemorrhage, and pigmentary migration. The visual prognosis is poor. These patients (of which ours is an excellent example), have associated cerebral vascular mal­formations and fall into the category described by Wyburn-Mason. Theron et al.~ reviewed 25 cases of documented vascular malformations of the retina and brain. Decreased vision was present in 16 of 21 patients. The most frequent visual field abnormality was a homonymous hemianopia. Orbital involvement was present in the vast majority of patients. The intracerebral vascular malformation was always unilateral, ipsilateral to the retinal lesion, deeply located, and often related to the optic pathway. Four patients had cerebral or subarachnoid hem­orrhage. Other neurologic symptoms were mental disturbance, hemiparesis or hemiplegia, cerebellar dysfunction, and Parinaud's syndrome. Seizures were present in only one patient, and four patients were neurologically asymptomatic. Angiomas of the face were present in approximately half of the patients. In contradiction to Archer's classification, three patients with normal vision and visual fields were found to have intracerebral artriovenous mal­formations with retinal lesions that would have been classified in groups 1 or 2. The neurologic presentation of patients with Wyburn-Mason, therefore, differs significantly from patients with cerebral vascular malformations in general. According to Mackenzie/ the present­ing complaint of 50 patients with cerebral arterio­venous malformations was epilepsy 32%, hemor­rhage 30%, and hemiparesis 12%. In the study by Theron et al.,~ the incidence of epilepsy was less than 5%, hemorrhage 12%, and hemiparesis 50%. The incidence of seizure activity is probably much less because of the deep location of the vascular malformation in the Wyburn-Mason syndrome. The eventual risk of cerebral hemorrhage is un­known in these patients. Many authors claim that the retinal lesions do not progress8 - 9 Our case, as well as many others, l<l-I~ would refute that premise. Patients may present with either acute or gradual loss of vision. The former occurs secondary to spontaneous hem­orrhage, and the latter is due to loss of nerve fibers from mechanical compression of the optic nerve, chiasm, or optic tract. Retinal arteriovenous com­munications have been shown to enlarge in size l .l or undergo spontaneous thrombosis with resolu­tion of the abnormal communication. I I Augsburger et aLI" describe a patient who developed sclerosis of a maculopapillary arteriovenous communication associated with enlargement of a superonasal mal- 60 formation and decrease in vision. Archer et al.5 feel that moderate to large-sized arteriovenous com­munications may result in progressive retinal mi­crovascular alterations that could represent yet an­other mechanism for progressive visual loss. Pathologic specimens l6 . 17 show that the vascular malformation may extend from the retina to the optic nerve, chiasm and tract, and to the midbrain and cerebellum. Histopathologically, the abnormal vessels may occupy the entire thickness of the retina; it may not be possible to distinguish arteries from veins. The blood vessels may develop fibro­muscular medial casts. The retina may be atten­uated and undergo cystic degeneration with migra­tion of pigment from the retinal pigment epithe­lium into the stroma. The optic nerve may show marked compression from the large vascular chan­nels associated with loss of nerve fibers and a decrease in the number of ganglion cells. Absence of the choriocapillaris with cystic degeneration of the choroid has been reported in a rhesus monkey with a retinal arteriovenous malformation. III The true incidence of cerebral vascular malfor­mations associated with retinal arteriovenous com­munications is unknown. Wyburn-Mason ori­ginally felt 80% of patients with retinal arteriove­nous communications had associated cerebral vas­cular malformations. However, the incidence of cerebral vascular malformation documented by an­giography, surgery, or autopsy was only 17% in his series. Bech and Jensen19 reviewed the world liter­ature on racemose aneurysms of the brain and found associated retinal vascular malformations in 8% of cases. In their own series/o of 52 cases of cerebral vascular malformations, none were asso­ciated with retinal vascular malformations. They also found an incidence of approximately 23% of cases of racemose aneurysm of the retina associ­ated with intracranial vascular malformations19 Theron et al.~ felt that of the more than 80 cases of retinal arteriovenous malformations reported by 1974, 25 had documented cerebral vascular mal­formations, an incidence of approximately 30%. Therefore, the ophthalmologist may be faced with the question of whether to pursue a search for an intracranial arteriovenous malformation should a retinal arteriovenous communication be discovered. In the presence of neurologic symp­toms and/or visual field changes, an intracerebral malformation should be highly suspected. The di­agnosis is based upon radiologic demonstration of the vascular lesion. Skull films may demonstrate whorl or circular calcifications, dilation, and tor­tuosity of vascular channels and an enlarged optic foramen. Postcontrast computed tomography is recommended as a screening procedure in these patients; if a vascular lesion is suspected, in­travenous digital subtraction angiography may be used as a confirmatory study. If the lesion appears Journal of Clinical Neuro-ophthalmology to be in a surgically accessible location, cerebral arteriography would then be necessary as a pre­operative study in order to define more clearly the vascularity of the mass. It is important to differentiate the retinal arteri­ovenous malformation from other vascular anom­alies. s· 21 The benign capillary angioma seen in von Hippel-Lindau disease is a hamartoma that could be confused with the retinal changes of Wyburn­Mason syndrome. It progressively enlarges from a small nodule and develops a tortuous, dilated feed­ing arteriole and draining vein. The capillaries become incompetent and leak, requiring oblitera­tive therapy because of the high incidence of exu­dative retinal detachments. It has an autosomal dominant inheritance pattern. Approximately 50% of cases affect both eyes, and 25% of cases are associated with central nervous system hemangio­blastomas. There is also an association with renal cell carcinoma, pheochromocytoma, and cysts of the pancreas, lung, epididimus, and kidney. Retinal telangiectasias consist of focal areas of dilated, irregular leaking vessels that vary in size and symp­tomatologyn The disorder is usually unilateral and is not associated with intracranial vascular anom­alies. Venous stasis may have enlarged tortuous veins, but should be easily distinguished from an arteriovenous malformation. Our patient is unusual in several respects. Most patients present before the age of 30. Although she has had significant symptoms for her entire life, she did not present for evaluation until the age of 54 and is the oldest patient, to our knowledge, with the Wyburn-Mason syndrome. We were able to find reference to only one other patient with such severe fundus change. Archer et al. s describe a patient who was blind since birth in one eye with a temporal hemianopia in the contralateral eye. The fundus had tortuous, obliterated veins with aneurysmal dilations. There were areas of pigmen­tation and lipid deposition with accumulation of fibrous tissue. Interestingly, their patient also had a suprasellar arteriovenous malformation involving the chiasm and both optic nerves. Asymptomatic retinal arteriovenous communi­cations do not require therapy. If the lesion under­goes vascular degeneration with hemorrhage or lipid exudation, photocoagulation may be of bene­fit. The cerebral arteriovenous malformations are usually not accessible to surgical intervention be­cause of their deep location. Tamaki et all" re­ported a patient with a large vascular malformation of the posterior fossa who had symptomatic im­provement of her cerebellar ataxia and headache following a course of cobalt radiation therapy. Schlieter et al."! described a patient with the Wybum-Mason syndrome with an inoperable vas­cular malformation of the left temporomedial re­gion that involved the basal ganglia that was re- March 1983 Hopen, Smith, Hoff, Quencer duced in size by partial embolization. To our knowledge, the suprasellar and chiasmaI arterio­venous malformation in the patient here reported is inoperable without placing the visual field of the only remaining eye in jeopardy. We have elected to follow her conservatively at this time. References 1. Wyburn-Mason, R.: Arteriovenous aneurysms of mid-brain and retina, facial naevi and mental changes. Brain 66: 163-203, 1943. 2. Smith, J.L., Flynn, JT, and Spiro, H.J.: Monocular vertical oscillations of amblyopia. The Heimann­Bielschowsky phenomenon. ]. Clin. Neuro-ophthal­mol. 2: 85-91, 1982. 3. Magnus, H.: Aneurysma arteriovenosuma retinale. VircholV's Arch. Pathol. Anat. Physiol. 60: 38-45, 1874. 4. Bonnet, P., Dechaume, J., and Blanc, E.: L'aneurysme cirsoide de la retine (aneurysme racemaux ses rela­tions avec I'aneurysme cirsoide de la face et avec l'aneurysme cirsoide du cerveau). ]. Med. Lyon 18: 165-178,1937. 5. Archer, D.B., Deutman, A; Ernest, ].T., and Krill, A.E.: Arteriovenous communications of the retina. Am.]. Ophthalmol. 75: 224-241,1973. 6. Theron, L Newton, T.H., and Hoyt, W.F.: Unilateral retinocephalic vascular malformations. Neuroradiol­ogy 7: 185-196, 1974. 7. Mackenzie, I.: The clinical presentation of the cere­bral angioma. A review of 50 cases. Brain 76: 184­214, 1953. 8. Rundles, W.Z., Jr., and Falls, H.F.: Congenital arte­riovenous (racemose) aneurysm of the retina. Report of three cases. Arch. Opthalmol. 46: 408-418, 1951. 9. Cameron, M.E.: Congenital arterio-venous aneu­rysm of the retina. Br. ]. Ophthalmol. 42: 655-666, 1958. 10. Dekking, H.M.: Arteriovenous aneurysm of the ret­ina with spontaneous regression. Ophthalmologica 130: 113-115, 1955. 11 Gregersen, E.: Arteriovenous aneurysm of the retina. A case of spontaneous thrombosis and healing. Acta Ophthalmol. 39: 937-939, 1961. 12. Tamaki, N., FUjita, K., and Yamashita, H.: Multiple arteriovenous malformations involving the scalp, dura, retina, cerebrum, and posterior fossa. Case report. ]. NeufOsurg. 34: 95-98, 1971. 13 Lalonde, G., Duquette, P., Laflamme, P.. and Vezina, J.L.: Bonnet-Dechaume-Blanc syndrome. Can. ]. Ophthalmol. 14: 47-50, 1979. 14. Unger, H.H., and Umbach, W.: Kongenitales oku­lozerebrales Rankenangiom. KJin. Mondtsbl. Augen­heilkd. 148: b72-b82, 19M. 15. Augsburger, J.J., Goldberg, R.E., Shields, J.A, Mul­berger, RD., and Magargal, L.L Changing appear­ance of retinal arteriovenous malformation. Albrecht von Graefes Arch. KJin. Exp. OphthalmoJ 215: b 15­70, 1980. 16. Cameron, M.E., and Greer, C.H.: Congenital arterio­venous aneurysm of the retina. A post mortem report. Br.]. Ophtha/mol. 52: 768-772, 19b8. 61 Wyburn-Mason Syndrome 17. Krug, LF., and Samuels, B.: Venous angioma of the retina, optic nerve, chiasm, and brain. A case report with postmortem observations. Arch. Ophtha/mo/. 8: 871-879, 1932. 18. Horiuchi, T., Gass, JD.M., and David, .I.: Arteri­ovenous malformation in the retina of a monkey. Am. J Ophtha/mol 82: 896-904, 1976 19. Bech, K., and Jensen, O.A.: On the frequency of co­existing racemose haemangiomata of the retina and brain. Acta Psychiatr Neuro/. (Scand) 36: 47-56, 1961. 20. Bech, K., and Jensen, O.A.: Racemose haemangioma of the retina. Acta Ophtha/mo/. 36: 769-781, 1958. 21. Gass, J.D.M.: Treatment of retinal vascular anoma­lies. TraIlS. Am. Acad. OtoJaryngo/. 83: 432-442, 1977. 62 22. Forman, A.R., Lussenhop, A.J., and Limaye, S.R.: Ocular findings in patients with arteriovenous mal­formations of the head and neck. Am. J Ophtha/mo/. 79: 626-633, 1975. 23. Schlieter, F., Szepan, B., and Polenz, B.: Uber das Wyburn-Mason Syndrome. KJin. MontasbJ. Augen­hei/ k. 168: 788-793, 1976. Acknowledgment The authors thank Mrs. Reva Hurtes and Mrs. Donna Higgs, who assisted in the library research, and to Miss Barbara French who prepared the photographs. Write for reprints to: Gary Hopen, MD., P. O. Box 016880, Miami, Florida 33101. Journal of Clinical Neuro-ophthalmology