Journal of Neuro-Ophthalmology, March 1985, Volume 5, Issue 1

Developmental anomalies of the optic disc and carotid circulation. A new association.

Three patients with developmental abnormalities of the optic disc (two morning glory anomalies and one retinochoroidal-optic disc coloboma) had angiographically documented aberrancies of the carotid circulation including large trunk occlusions, moya-moya-like collaterals, dolichoectasia, and absent ophthalmic artery. Although developmental optic disc abnormalities have been linked with other problems such as basal encephalocele, congenital heart defects, and eyelid hemangiomas, these three patients are the first to our knowledge to have related malformations of the intracranial circulation. We suggest, therefore, that the presence of a congenital optic disc anomaly may herald a similar defect in the cerebral circulation.

/. C/ill. Nl'lIro-llpiltilalmo/. 5: 3-8, lQH5. Developmental Anomalies of the Optic Disc and Carotid Circulation ANew Associahon MAURICE R. HANSON, M.D. RONALD L. PRICE, M.D. A. DAVID ROTHNER. M.D. ROBERT L. TOMSAK, Ph.D., M.D. Case Reports Cast' 1 A 25-year-old, right-handed woman was first examined in March 1982, because of recurrent episodes of right auricular hemorrhage. Between September 1981 and January 1982, she experi­enced 17 distinct episodes of pulsatile, bright red hemorrhage from the right external auditory canal. During one of these episodes, transient blindness of the right eye occurred in association with numbness of the left face, arm, and leg for about 1 hour. Her past history was remarkable for several facial hemangiomas which were removed during infancy for cosmetic reasons. Amblyopia of the right eye was present since birth. At the age of 7, she had a right radical mastoidectomy performed because of chronic mastoiditis, but the operation had to be terminated abruptly because of massive bleeding. Neurologic examination in March 1982, re­vealed healed scars over the right forehead and nuse from previous excision of the hemangi,)mas. Bilateral supraclavicular bruits were present and a conductive hearing loss was noted on the right. The myotatic reflexes were increased on the left. Neuro-ophthalmic exam disclosed right eye vi­sion of 20/200 and left eye vision of 20/20. A 45­diopter exotwpia was present as well as an affer­ent pupillary defect on the right. A dense ceco­central scotuma was .llsl) present in the right ViSULll field. The right optic disc was dysplastic and was consistent with the morning glory syn­drome (Fig. 1) The patient underwent an aortic arch study with selective catheterization of the carotid and vertebral arteries as well as a venous digital sub­traction angiogram. She had a double aortic arch From lht' SeclIun, "f Nl'ur"'"phlhdlmulugy (MRII. RI.T). Pediatric Ophlhalm,.I"gv (RLP). ,JnL! 1\·diJlri, Neurol"gy (ADR). Cleveland ClinK F"undati"n, ClL-vl'!,lIld. Oh,u Introduction Congenital anomalies of the optic disc are rel­atiwlv infrequent but important disorders en­countered in clinical practice. A diversity exists, including optic nerve hypoplasia, megalopapilla, optic disc dvsplasias, colobomas and pits, tilted discs, and d'rusen of the optic disc.) , They may be unilateral or bilateral, asymptomatic or asso­ciated with visual failure, strabismus, or nystag­mus. Systemic abnormalities of neuro-ophthalmic interes! such as midline facial defects and con­genital forebrain abnormalities, are known tu cu­exist with congenital anumahes of the optIc disc. 1 ; To our knowledge, however, maldevelopment of the intracranial vasculature has not been pre­viously linked to congenital optic disc aberrancies. We report herein two cases uf the murnlng glory syndrome and une case of a retInOChOrOldal-optlc disc coloboma in association with malformations Abstract of the carotid circulation. Three patients with developmental abnormalities of the optic disc (two morning glory anomalies and one retinochoroidal-optic disc coloboma) had angio­graphically documented aberrancies of the carotid circulation including large trunk occlusions, moya­mova- like collaterals, dolichoectasia, and absent ophthalmic artery. Although developmental optic disc abnormalities have been linked with other problems such as basal encephalocele, congenital heart defects, and eyelid hemangiomas, these three patients are the first to our knowledge to have re­lated malformations of the intracranial circulation. We suggest, therefore, that the presence of a con­genital optic disc anomaly may herald a similar defect in the cerebral circulation. March 1985 3 Figure 1. Mllrnmg glllrv di,e anllmalv, nght eve (case 1) Figure 2. Intraven,'us digital sUDtr,lell,'n angll1gr,lm shll\\'mg "ten,'lle left earolld arterv (large \\'hlte ,lrw\\'), largt' nght \erlt'Dral arT,l\\, (large dar\.. arw\\,), enlargt'd nght mternal m,l"lIarv arterY ("mall dar\.. arrow) illrmmg multipil' "m,lll ,In,1,,t,'n1lllle eh,lnlwb ("m'lillight arrllw), WIth the' right mtern,ll c,lwltd ,uterv (C,l"<' 1) with the right-sided arch patent. There was dif­fuse narrowing of the left common and internal carotid arteries (Fig. 2). There was complete oc­clusion of the right internal carotid at its origin. A prominent, enlarged internal maxill,lrV branch formed fine an,l"tonllltic channels through the vidian branl'hl'" in thl' temporal bone, reconsti­tuting tl1\' right in !L'rn,l I c.lwtid intr,ll'r,lI1ially (Figs. 2 and 3). The auricular hemorrhage was felt to stem from a persistent stapedial artery. In order to prevent recurrent hemorrhage, a right common carotid to middle cerebral artery byp,lSS was performed using a saphenous vein graft. This was followed by ligature of the right e"ternal carotid and clipping of the intracranial portion of the right internal carotid artery. She Journal of Clinical Neuro-ophthalmologv Figure 3. Subtracted film llf seleclt\'e right common caroltd Iniectllln There IS complete llcclusilln of the right internal carl'tld arterY at Its lmgIn An enlarged nght internal maxillary arterv f,'rms mulltpit' anastLlmultc channels (large white ar· rl'''1 "lth reCl'nst,tutlon of the nght Intracranial Internal ca· rlltld arten Ismail whItt' arruw) (case 1), tolerated the procedure without incident. After patency of the bypass was proven by postopera­ti\' e digital subtraction angiography, a right radi­cal mastoidectomy was done and the middle ear cavity was packed with a fat pad. Subsequently, no further bleeding has occurred. Case 2 In 1975, a 9 J/c-year-old girl was evaluated for a right optic disc abnormality and suprasellar calcification noted on skull series and EMI scan. Ophthalmologic exam at that time revealed 20/ 20 vision with each eye and was abnormal only for a dysplastic optic disc (morning glory anom­aly) (Fig, 4), and an enlarged blind spot in the right visual field. As part of the evaluation, transfemoral carotid angiography was done. The right internal carotid artery in the region of the cavernous sinus ap­peared somewhat straightened, The posterior communicating artery and posterior cerebral ar­tery were prominent. The middle cerebral artery was narrow at its origin and filled in retrograde fashion from the posterior cerebral artery. Many March 1985 Ifanson, Price, Rothner, Tomsak Figure 4. Murning glory disc anomaly, right eye (case 2) Figure 5. A·l' subtracted vit'w of the right caroltd circulalton shmving mulltple branch occlusions of the middle cerebral group and a mOy,l·mOya·typl' p,lttern (cast' 2), of the small arteries in the region of the basal ganglia were much more prominent than usual suggesting maya-maya disease (Fig. 5). The left internal carotid artery was tortuous, elongated, and dilated beginning at the level of Cl and extending into the supradinoid region. 5 Figure 6, A· r "'l'W llt tht' It'lt mtl'rnal carotid Mlt'r\' ,hllwm!,\ a d"hch"t'd.ll'c artt'fI' (casl' 2), Figure 7. C"nlr",1 l'nh,1I1Cl'd CT ,c,m ,hll",ing d"h,'h"l'cl.lll" Inl"rnal C,H"I,d In ".pr,hl'iIM rC'gllln (ca,,' 2) The major dilatiun and turtuosity was ablwt.' the level of the sella (Fig, 6), . Follow-up examination in 1984 revealed no significant change in the CT appearann.' of the 6 Figure 8. SaturatIon reco,'en' 06 Tesla nuclear magnetic re,,,nanCe ,mage llt d"hchllt'ctallc vessels of the left carotid clrculalllln (blacJ.. arr"",) (case 2) suprasellar vascular abnormality (Fig, 7), A nu­clear magnetic resonance image of the malfor­mation is shown for comparison (Fig, 8), Cast' 3 A 22-year-old woman was evaluated for sud­den loss' of the inferior half of the left visual field in April 1980, Visual acuity was 20/20 with each eye. A 2+ afferent pupillary defect was observed on the left. Cl)mplete loss of the left inferior visual field was cllOfirmed by Goldmann perimetry, A retinochoroidal coloboma was present in conti­guity with a somewhat dysplastic left optic disc (Fig, 9), Echocardillgraphy, CT scan. and blood tests for clotting disl)rders and vasculitis were all normal. As part of the evaluation. selective left internal cawtid angil)graphy was done and demonstrated absence of the left ophthalmic artery (Fig. 10). The left eye presumably received its blood sup­ply via branches of the left external carotid artery. althl1ugh adequate visualization of these vessels was not possible. The cause for visual loss was ultimately presumed to be ischemic optic neuro­pathy since risk factors included migraine, ciga­rette smoking. and oral contraceptive use and because no other cause could be found. Journal of Clinical Neuro-ophthalmology Ilanson, Price, Rothner, Tomsak Figure q, Rl'l1l1<l-lh<lr<l"i.lI-<lptlC dlSl loloboma, Itdl"Vl' (lase 3). Figure 10, Subtradl'd kft lntl'rnalldrtltJd angi<lgram sh<lwlng abSll'nll' "f Idt "phthalmlc arten' ((,1'" 3) Discussion T\\'o of our patients had the morning glory disc anomal".ln 1970, Kindler described 10 cases with the characteristic fundus findings of an enlarged, pink, funnel-shaped, excavated optic nerve head surrounded by a circle of chorioretinal pigment disturbance. An abnormal vascular pattern was noted as was a central "dot" of presum,'d glial tissue. h Subsequently, Brown and Tasman4 and Steinkuller7 have summarized this condition as usually unilateral and occurring in females about two-thirds of the time. Visual acuities in the af­fected eyes ranged from 20/40 to no light percep­tion. N~merous other ocular abnormalities have been noted in association with the morning glory March 1985 syndrome including nonrhegmatogenous retinal detachment, strabismus, anterior chamber clev­age syndromes, and lenticulohyaloid dys­geneses." ~. 7 Nonocular associations include hyperteliorism, basal encephalocele, and facial hemangio­mas.' 5.7 No other systemic or neurologic prob­lems have been described? The exact pathogenesis of this condition is not known, but failure of closure of the embryonic fissure or abnormal development of the pri~itive neuroectodermal papilla has been suggested.~; However, there is little doubt that the morning glory anomaly represents a developmental defect of the optic nerve, Our third case had a retinochoroidal coloboma contiguous with a dysplastic disc representing incomplete closure of the fetal fissure· Numerous systemic defects have been noted \·vith this anom­aly including congenital heart problems, double aortic arch, transposition oi the great vessels, and coarctation of the aorta· " However. cerebrovas­cular malformations have not been noted pre\'i­ously. The arterial anomaly in case lme included a double, right-sided al~rtic arch in conjunction with arterial trunk occlusilms and an unusual anastllmotic network between the internal and external carotid arll'ries. In case 2, the arterial abnllrm,llities included a Cllntr<llateral dllliCllectatic carotid artery and ipsi­later, ll middle cerebral ,utery stl'noses akmg with a nlllya-moya p,ltlern. In the third case, the ophthalmic artery was absl'nt on the same side as the coloboma,- Since this patient developed sudden visual loss, it could be argued that this was due to an acquired ophthalmic artery thrombosis. However, no other signs oi retinal, anterior segment, or orbital is- 7 ",'1111.1 1\'l'I"l' pI<' ,,'Ill The clinic,ll picture was 1111''''1 ""IlSlsl,'lll ,,1111 Ischemic optic neuropathy, lI11ph'illg ."',11,111 \ ''''''l·1 dise,lsl' nl',n the optic nervI' 11l"ld.'" It """'Ills 1l1ll..,t l,h.dy th,lt ,1I1 illsult l'drly in "l11bn'I'g"11l''''I''' ,1111'1,tl'd both the dl'vl'lopnll'nt of 11ll' 'lplil dl"','", ,IS \\",11 ,IS the illtr.ll'r,lIlial ".Hotid ,'ll'dil,111l11l 111 t,lIld"Ill, Durillg thl' lilllL' IhL' em­br\' llill" li..,slll"l' f,'rllls ,1Ild ,llmo..,t tot,llly do..,,·... (420 111111 ,.,t.lgl'), till' primiti\'l' illtl'rn,l( Colflltid ,Htl'rv ,h'\'l'lop"', s"lldillg tlw d'lr"'oll ,lnd Vl'ntr,ll ,'phth,llllli,' .Htl'ril's to supply till' optic cup" By the 2(l-mlll st,lge of embryonic development. the llphth,llmic ,ntery totally supplies the developing eye ,1I1d the stapedial artery supplies the sur­fllllnding orbit,ll tisslIl'S." This last point may be of relI'V,llKl' to case I, where a persistent stapedial ,nkry W,lS thought to be responsible for recurrent ,1lIricul.u hemorrhage. References I, rag"n, R, A.: Ocular colubuma, Sun'. Oplltllalm,'/ 25: 223-236, 19t\1 2 April', D. j., Rabh, M F., and Walsh, P. rv1 .. Cun- 8 genital anomalies of the optic disc. Surv. Opllthal-mol. 27: 3-41, 19R2 . 3, Acers, T E.: COI/Xl'l/ital Abl/ormalities of the OptIC Nl'rul' alld Relatl'd Forebrail/. Lea & Feblger, PhIla-delphia. 19H3 . 4, Brllwn. C C. and Tasman, W. S.: Congellltal Al/omall\'5 of fill' Optic Disc. Grune & Stratton, New Yurko 19H3 ') Goldhammer. Y" and Smith, J, L.: Optic nerve anllmalie~ in ba~al encephalocele. Arch. Ophthal­mol 93: II ')-11 H. 1975. h, Kindkr 1' .. Murning glory syndrome: Unusual con­h" llItal optic disk anumaly. Am. f. Ophthalmol. 69: 37h-3R2.197lJ 7 Steinkulkr, r C: Murning glory disc anomaly: Case report and literature review. f. Ped. Ophthal­l11o/ 5frab 17: HI-87. 1980. H, James. r. M. L Karseras, A. G., and Wybar, K. C: Systemic associatlllns of uveal coloboma Br. f. Ophfha/mol 58: 917-921. 1974. 9, Duke-Elder. 5: 5l/5f,'m of Ophthalmology, Vol. 3, Pari 1. Embn/,'It'x,~ C V \1usbv. SI. Louis, 1963. pp 179-20X 10, Bughen, a R. and Gla~er. J 5: Ischemic optic neuwpath\' The clinical profile and natural his­tUrl' Bralll 98: 6H9-70R. 197::;, IVnfl'IM rqlrlll/5 ft' Rubert L Tumsak, \1.0.. Desk II. 9::;00 Euclid A\'enue, Cle\eland, Ohio HI 06 Journal of Clinical Neuro-ophthalmology