Acquired Segmental Iris Dilator Muscle Synkinesis

CASE REPORTS AND SMALL CASE SERIES

within a few seconds. The iris ap- bers. The swallowing disorder, the Acquired Segmental Iris peared to tighten radially at the 7:30- flacidity of the soft palate, and the Dilator Muscle Synkinesis and 1:30-o’clock positions. When we remaining deviation of the ex- Due to Deglutition examined the patient at 10 years of tended tongue indicate involve- age we confirmed these findings. A ment of hypoglossal and glossopha- Congenital ocular “misdirection dys- right-sided ptosis, facial vasodys- ryngeal fibers. We assume that the kinesis” typically involves multiple regulation (flushed left side of the origin of the misinnervation was va- cranial nerves. Acquired peripheral face, pale right side of the face after gal, because the pupillary distor- misdirection usually occurs in the exercise), and anhidrosis (from fore- tion could be elicited only by drink- same nerve; less frequently, more head to larynx region; iodine starch ing, when permanent, significant than one nerve are involved. We de- reaction) were present, but not iris esophageal peristalsis is required; but scribe an unusual synkinesis of the heterochromia. The right pupil di- not by lower swallowing frequency iris dilator muscle due to degluti- lated poorly on instillation of 4% co- (eating) and low volume load (sa- tion, presumably caused by post- caine hydrochloride and 5% phole- liva) at the same swallowing fre- traumatic aberrant outgrowth of va- drine formate (equivalent to 1% quency as when the child was drink- gal nerve fibers to the cervical hydroxyamphetamine hydrobro- ing. That is, the pupillary distortion sympathetic chain. mide; Figure 1). was elicited mainly by the volun- tary sequence of the swallowing act, Report of a Case. We describe an Comment. The findings indicated a which requires activity of the hypo- unusual synkinesis in a 10-year- lesion of the postganglionic (third glossal and glossopharyngeal nerves. old boy. On the sixth day of life a order) sympathetic neuron, either Descending vagal fibers in the neuroblastoma was removed from primary or by transsynaptic degen- neck are adjacent to the fibers of the the right side of his neck. A right- eration. Some axons of the postgan- ascending sympathetic chain sided Horner syndrome and pare- glionic neuron must have been in- (Figure 2). If these fibers are in- sis of the recurrent laryngeal nerve tact, because the synkinesis requires jured at the same time, aberrant va- occurred postoperatively, as well as adrenergic innervation of the iris di- gal sprouts can grow into the cervi- a flacidity of the right soft palate, a lator muscle. There is a close topo- cal sympathetic path.2 Since the deviation of the tongue to the right graphic relationship among the sym- vagal sprouts are cholinergic, some side, and an atony of the esophagus pathetic superior cervical ganglion, of them may be lost owing to phar- and the stomach that regressed the inferior ganglion of the vagus macological incompatibility. But, if within 2 weeks. When the child was nerve, the hypoglossal nerve, and they reach sympathetic ganglion 2 years old, the parents recognized the glossopharyngeal nerve.1 The cells in the superior cervical gan- that his right pupil became dis- esophagus and stomach atony and glion, they may make a permanent— torted when he was drinking and af- the recurrent laryngeal nerve pare- albeit inappropriate—cholinergic terward regained its round shape sis indicate an injury to vagal fi- connection. If these sprouting fi-

Figure 1. Right-sided Horner syndrome, without swallowing (A), with pupillary distortion due to swallowing (B), 30 minutes after instilling 5% pholedrine formate in both eyes (an identical anisocoria was present after instilling 4% cocaine hydrochloride in both eyes) (C), and 15 minutes after instilling 5% phenylephrine hydrochloride in both eyes (D). Pupillary diameter expressed in millimeters for the right eye/left eye is as follows: (A) 4.5/5.2, (B) 7.3ϫ4.1/5.2, (C) 4.5/7.4, and (D) 7.4/7.4.

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©1998 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 Figure 2. Topographic relationship of the 7th, 9th, 10th, and 12th cranial nerves, the inferior ganglion of the 10th nerve (IGV), and the superior cervical ganglion (SCG) in the retropharyngeal space.3 IC and EC indicate Figure 1. Left sympathizing eye, 1 year after onset of sympathetic ophthalmia. A yellowish macular lesion internal and external carotid arteries, with focal intraretinal hemorrhage is shown with a surrounding ring of hyperpigmentation and circinate respectively. hard exudates, clinically consistent with choroidal neovascularization.

bers are to survive, they must still be connected to their original vagal ganglion cells.

Brigitte I. Boehme, MD Michael H. Graef, MD Giessen, Germany

Reprints: Michael H. Graef, MD, Uni- versity of Giessen, Department of Stra- bismology and Neuroophthalmol- ogy, Friedrichstrasse 18, D-35385 Giessen, Germany.

1. Miller NR. Walsh and Hoyth’s Clinical Neuro- ophthalmology. Baltimore, Md: Williams & Wilkins; 1985;2:425. 2. Loewenfeld IE. The Pupil: Anatomy, Physiology, and Clinical Applications. Detroit, Mich: Wayne State University Press; 1993:520-627. 3. Platzer W. Taschenatlas der Anatomie. Stuttgart, Figure 2. Left eye, 3 months after commencing cyclosporine (cyclosporin A) therapy, showing resolution Germany: Georg Thieme Verlag; 1979;1:343. of macular edema and hemorrhage.

lustrating resolution of CNV in a ity of finger counting OD and 20/30 child with active refractory sympa- OS while receiving a maintenance Cyclosporine-Induced thetic ophthalmia after starting cy- dose of 1 mg/kg on alternate days. Resolution of Choroidal closporine therapy. Funduscopy of the left eye revealed Neovascularization mild vitritis and a yellowish macu- Associated With Report of a Case. A 3-year-old boy lar lesion, with a surrounding hyper- Sympathetic Ophthalmia had a limbal rupture involving uveal pigmented ring and circinate hard prolapse of his right eye after he fell exudates, which was clinically con- Choroidal neovascularization (CNV) on his feeder cup. Primary repair was sistent with CNV (Figure 1). De- is a sight-threatening complication performed and postoperative visual spite systemic prednisone therapy, of sympathetic ophthalmia, a clas- acuity was 20/80 OD and 20/20 OS. his visual acuity worsened to 20/200 sic example of endogenous poste- When sympathetic ophthalmia de- OS 10 months later. Systemic cy- rior uveitis.1,2 Cyclosporine (cyclo- veloped 4 months later, his visual closporine therapy was added at 5 sporin A) has been shown to be acuity deteriorated to finger count- mg/kg per day. Three months later, effective in the treatment of sight- ing in both eyes. Oral prednisone visual acuity improved to 20/100 OD threatening disease associated with therapy at 1 mg/kg per day was and 20/60 OS with resolution of left active intraocular inflammation in started. His uveitis improved slowly; macular edema and hemorrhage adults.3 We present a case report il- 1 year later he achieved a visual acu- (Figure 2).

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©1998 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 Report of a Case. A 24-year-old woman had been diagnosed with abetalipoproteinemia at age 2 years. The diagnosis was based on peripheral blood acanthocytosis, low serum cholesterol levels, absence of serum lipoprotein, and characteristic lipid deposits in mucosal cells on small bowel biopsy. She was treated with vitamin E injection and oral vi- tamins A, D, and K. Results of ini- tial ocular examinations were within normal limits. At age 18 years, the patient vol- untarily discontinued treatment with vitamin supplementation; after- ward she reported worsening of night vision and progressive field changes. She was evaluated at the Figure 3. Left eye, after 25 months of cyclosporine (cyclosporin A) therapy, with complete resolution of Ocular Genetics Clinic of The Hos- macular edema and ring of hyperpigmentation, indicating resorption of subretinal blood and complete regression of choroidal neovascularization. A residual atrophic macular scar remains. pital for Sick Children, Toronto, Ontario, at age 24 years. Best- corrected vision was 20/20 OU. Re- Visual improvement continued, due 1. Chew EY, Crawford J. Sympathetic ophthalmia fraction was −0.75+0.50ϫ165° OD to vitritis remission and complete and choroidal neovascularization. Arch Ophthal- and −1.00+1.00ϫ175° OS. Ophthal- mol. 1988;106:1507-1508. CNV regression (Figure 3). 2. Carney MD, Tessler HH, Peyman GA, Gold- moscopy showed bilateral and sym- Cyclosporine therapy was with- berg MF, Williams DP. Sympathetic ophthal- metric helicoid peripapillary changes mia and subretinal neovascularization. Ann Oph- (Figure 1), equatorial retinal pig- drawn 25 months after commence- thalmol. 1990;22:184-186. ment. Then the patient’s visual 3. Nussenblatt RB, Palestine AG, Chan CC. Cyclo- ment epithelium (RPE) mottling, acuity was 20/100 OD and 20/30 sporin A therapy in the treatment of intraocu- and attenuation of blood vessels lar inflammatory disease resistant to systemic cor- but absence of true angioid streaks. OS despite a residual atrophic left ticosteroids and cytotoxic agents. Am J macular scar. Ophthalmol. 1983;96:275-282 There was no sign of inflammation. 4. Pivetti-Pezzi P, Accorinti M, Abdulaziz MA, Fluorescein angiography showed La Cava M, Torella M, Riso D. Behc¸et’s disease Comment. Sympathetic ophthal- in children. Jpn J Ophthalmol. 1995;39:309- a large peripapillary defect with mia–induced CNV has been re- 314. no evidence of leakage or angioid 1,2 5. Tugal-Tutkun I, Havrlikova K, Power WJ, Fos- streaks (Figure 2). A Goldmann ported twice, to our knowledge, ter CS. Changing patterns in uveitis of child- both cases in children. Sympa- hood. Ophthalmology. 1996;103:375-383. visual field examination revealed thetic ophthalmia–induced CNV bilateral constriction of the periph- regression may have been sponta- eral field and enlargement of the neous,1 but is not described when blind spot. Electroretinogram uveitis is active, as in our patient. Helicoid Peripapillary recordings were severely attenu- Although it has proven effective in Chorioretinal Degeneration ated to all stimuli. adult cases,3 cyclosporine therapy in Abetalipoproteinemia The serum level of vitamin A has rarely been used in pediatric was 0.20 µmol/L (normal range, refractory uveitis.4,5 When associ- Abetalipoproteinemia is a rare auto- 1.05-3.14 µmol/L), whereas for vi- ated with active aggressive refrac- somal recessive disorder character- tamin E, it was 7.0 µmol/L (normal tory uveitis, cyclosporine therapy ized by the absence of apolipopro- range, 12.0-46.0 µmol/L). Vitamin suppresses the inflammatory re- tein B.1 It is caused by mutations therapy was restarted, and 6 months sponse3 and contributes to resolu- of the microsomal triglyceride- into treatment there was no progres- tion of inflammatory-induced transfer protein gene.2 Ocular mani- sion of symptoms. CNV. festations include retinitis pigmen- tosa–like changes, nystagmus, Comment. Helicoid peripapillary Dara J. Kilmartin, FRCOphth ophthalmoplegia, ptosis, cataracts, chorioretinal atrophy is a rare dis- John V. Forrester, MD anisocoria, and angioid streaks.3 Heli- order characterized by winglike cho- Andrew D. Dick, MD coid peripapillary chorioretinal de- rioretinal atrophy emanating from Aberdeen, Scotland generation (HPCD) is characterized the optic disc. A dominant form was by chorioretinal atrophy that radi- recently mapped to chromosome Reprints: Dara J. Kilmartin, ates from the optic disc as winglike 11p15.4 The differential diagnosis of FRCOphth,University of Aberdeen extensions.4 No systemic disease has HPCD includes serpiginous choroi- Medical School, Foresterhill, Aber- been associated with HPCD. We re- ditis, angioid streaks, malignant deen AB25 2ZD, Scotland (e-mail: port a case of HPCD associated with myopia, paravenous retinochoroi- [email protected]). abetalipoproteinemia. dal atrophy, and radial lattice reti-

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©1998 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 Figure 1. Fundus photographs showing bilateral symmetrical wing-shaped atrophy radiating from the optic discs, compatible with helicoid peripapillary chorioretinal degeneration in the right (left) and left (right) eyes.

protective effect on the RPE, predis- posing the RPE to the tearing mecha- Long-term Persistence nism proposed by Brazitikos and Sa- of Antirecoverin Antibodies 6 fran. in Endometrial To our knowledge, this case Cancer-Associated represents the first association of HPCD with abetalipoproteinemia. Retinopathy Whether HPCD represents a true distinct manifestation of abetalipoproteinemia or a variant of Autoantibodies to recoverin are angioid streaks remains to be found in the serum of patients with clarified. cancer-associated retinopathy syndrome (CAR), in which retinal degeneration occurs in the presence of Figure 2. Corresponding late-phase fluorescein Agnes M. F. Wong, MD angiography of the patient’s right eye showing Elise He´on, MD, FRCSC systemic tumor growth without me- the absence of dye leakage from the peripapillary Toronto, Ontario tastasis to the eye. The presence of lesions. antirecoverin antibodies has, so far, been associated with small cell car- nal degeneration.5 The absence of in- Corresponding author: Elise He´on MD, cinoma of the lung. We describe a flammatory signs, the symmetry of FRCSC, Eye Research Institute of patient with an endometrial carci- the fundus lesions, the characteris- Canada, 399 Bathurst St, Room 6- noma who possesses T cells and an- tic wing-shaped atrophy, and the ab- 412, Toronto, Ontario, Canada M5T tibodies that react with recoverin. sence of leakage on fluorescein an- 2S8 (e-mail: [email protected] The demonstration of autoantibod- giography in our patient support the .on.ca). ies in a patient’s serum is impor- diagnosis of HPCD.5 tant to the diagnosis of CAR and can- Brazitikos and Safran6 sug- 1. Sokol RJ. Vitamin E and neurologic deficits. Adv cer and monitoring treatment of Pediatr. 1990;37:119-148. gested that HPCD is caused by 2. Narcisi TME, Shoulders CC, Chester SA, et al. diseases. Although several studies dysplastic abnormalities of the Mutations of the microsomal triglyceride- have reported the presence of anti- peripapillary RPE, which predis- transfer-protein gene in abetalipoproteinemia. bodies specific to CAR antigens even Am J Hum Genet. 1995;57:1298-1310. pose it to damages from mechani- 3. Dieckert JP, White M, Christmann L, Lambert HM. before the diagnosis of cancer, to cal stretching of the globe during Angioid streaks associated with abeta- date, no long-term follow-up stud- lipoproteinemia. Am J Ophthalmol. 1989;21:173- growth, progressive tearing of the 179. ies have examined the prevalence of RPE, and subsequent chorioretinal 4. Fossdal R, Magnusson L, Weber JL, Jensson antirecoverin antibodies in those pa- atrophy. The pathogenesis of O. Mapping the locus of atrophia areata, a tients’ recoverin. helicoid peripapillary chorioretinal degenera- HPCD, and its possible relation- tion with autosomal dominant inheritance, to ship to angioid streaks, remains chromosome 11p15. Hum Mol Genet. 1995;4: Report of a Case. A 61-year-old white unclear. 479-483. woman had endometrial cancer in 5. Gass JDM. Stereoscopic Atlas of Macular Dis- Vitamin E deficiency has been eases. 3rd ed. St Louis, Mo: Mosby-Year Book Inc; 1991 and had had a hysterectomy for implicated as a cause of retinal 1987:142, 294. undifferentiated carcinoma with neu- 7 6. Brazitikos PD, Safran AB. Helicoid peripapil- changes in abetalipoproteinemia. lary chorioretinal degeneration. Am J Ophthal- roendocrine features in September Vitamin E acts as a free radical scav- mol. 1990;109:290-294. 1991. In July 1992, metastatic dis- enger and prevents oxidative in- 7. Runge P, Muller DPR, McAllister J, et al. Oral ease of the lumbar spine was de- 1 vitamin E supplements can prevent the retinopa- jury to membrane lipids. Defi- thy of abetalipoproteinemia. Br J Ophthalmol. tected. The tumor was surgically re- ciency of vitamin E may decrease its 1986;70:166-173. moved; she was treated with a

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©1998 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 Antibody Level, OD405 tests, x-ray films, and clinical exami- 0.3 0.5 0.7 0.9 1.1 1.3 nations, were negative. Cancer-

May associated retinopathy antigens tested negative. The patient was given a July combination of megestrol acetate (Megace) and 714X (an experi- August mental drug to prevent cancer re- currence). In December 1993, her September electroretinogram showed no cone

1994 response, despite computer averag- September ing, and a highly abnormal rod re-

October sponse, about 1% of normal. Dark ad- aptation was elevated. In February November 1994, she underwent left hip replace- ment for a hip fracture that was due December to the heavy steroid treatment. In January and April 1994, plasmapher- January esis was performed and her color vision improved immediately; how- March ever, in May, her vision worsened

April again. Her electroretinogram showed

Time of Sample Collection Time 1995 a barely detected response, about half June of the response 6 months previ- ously. In August 1994, the antibody August titer started to gradually increase and reached a very high level (1:12 800). December There were no signs of metastasis. She was prescribed Tołpa Torf Prepara- March tion, a natural immunomodulator drug. The antirecoverin antibody level 1996 June dropped dramatically and reached al-

November most normal levels in July 1995; at this point her visual acuity stabi- 1997 April lized at hand motions OU. 1.5 2.0 2.5 3.0 3.5 Antirecoverin activities of se- Stimulation Index rum antibodies and lymphocytes were Figure 1. Kinetics of antirecoverin antibody levels and antirecoverin lymphocyte activities of a patient measured over 3 years (Figure 1). with cancer-associated retinopathy. Antirecoverin antibodies were first detected in December 1992. The The specificity of antibodies was graph represents data collected in our laboratory since May 1994. The antibody level was measured at confirmed by immunostaining of 1:400 serum dilution by enzyme-linked immunosorbent assay (squares). Normal level of antirecoverin purified recoverin (Figure 2). Iso- antibodies gives optical density OD405=0.3. Lymphocyte activities were measured by lymphocyte proliferation assay and are presented as stimulation indexes (bars represent mean of triplicate cultures). typing showed that antirecoverin an- Stimulation index for normal individuals is less than 1.5. tibodies were mostly IgG1. Because we recently have demonstrated that combination of radiation and 5- eye with eccentric gaze. She had os- recoverin was expressed in lung car- fluorouracil. In October 1992, she no- teoporosis and posterior subcapsu- cinoma of a patient with CAR,1 we ticed floaters, “dark” vision with a loss lar cataracts; treatment with steroids tested the patient’s tumor for recov- of color vision in the left eye, and was tapered. Her vision decreased erin expression. A reverse transcrip- “blurring vision” in the right eye. Vi- again, and she tested positive for re- tion–polymerase chain reaction sual acuity was 20/70 OD and count- coverin antibodies in March 1993. yielded the predicted size of prod- ing fingers OS. A fundus examina- Her dose of methylprednisolone was ucts corresponding to the recoverin tion showed vitreous cells (possible increased, which led to improve- sequence from the endometrial vitreitis) and optic nerve pallor. In De- ment in her visual acuity to 20/25 OD carcinoma and a normal donor re- cember 1992, her vision worsened. and 20/400 OS, but by May 1993, her tina used as a control source of re- Her blood serum tested positive for vision deteriorated again. She recoverin, Figure 2. the presence of antirecoverin anti- ceived no positive effect from increas- bodies, which led to the diagnosis of ing her dose of methylprednisolone Comment. Although there have CAR. She was given methylpredniso- even to very high doses; therefore, been 3 previous case reports of CAR lone (Medrol), and her vision im- treatment with methylprednisolone syndrome associated with endome- proved to 20/25+ with full color vi- was stopped. Results of multiple trial cancer,2-4 to our knowledge this sion and full fields in the right eye, and metastatic workups, including mag- is the first such case where antire- 20/400 with poor, but improved, color netic resonance imaging, computed coverin antibodies and T-cell re- vision and damaged fields in the left tomographic scans, bone scans, blood sponses have been documented. Un-

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©1998 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 be controlled. Steroid treatment, plasmapheresis, and immunomodu- lation with Tołpa Peat Preparation were effective in lowering those antibodies in the serum, vision was stabilized, and occasionally improved. In contrast, T-cell activities were moderate to low, and in- creases were not accompanied by overt disease, probably suggesting a lesser role in the pathogenicity.

Grazyna Adamus, PhD Drake Amundson Figure 1. Fundus photograph of the left eye Portland, Ore demonstrating morning glory disc anomaly and Figure 2. Identification of recoverin by macular hole (arrow). Macular hole appears immunoblotting and by RT-PCR. Left, Cynthia MacKay, MD closer to the disc than normal due to the Immunoblotting of recoverin with patient’s Peter Gouras, MD enlargement of the optic disc rim. antibodies. 1 indicates protein molecular New York, NY standards stained with Coomassie brilliant blue; 2, immunostaining of bovine recoverin (26 kd); peripapillary glial tissue, and a com- and 3, immunostaining of human recoverin This study is supported by grant plex pattern of retinovascular anom- (23 kd). The arrow indicates the position of EY10361 from the National Eye In- alies.1 Unlike other optic disc anoma- recoverin on the blot. Right, Separation of stitute, National Institutes of Health, polymerase chain reaction products amplified lies, the morning glory disc anomaly from the archived patient’s tumor tissue and Bethesda, Md (Dr Adamus). is consistently associated with a normal donor retina on 2% agarose gel stained The studies were performed in profound retinal vascular dysgen- with ethidium bromide. 1 indicates molecular accordance with our institution’s esis. We describe a patient who had standards; 2, polymerase chain reaction product obtained from the patient’s endometrial tumor; guidelines. Legacy-Institutional Re- signs of middle cerebral artery oc- and 3, PCR product obtained from human retina. view Board has approved the proto- clusion and moyamoya vessels ip- The arrow indicates the position of the product cols and informed consent has been silateral to a morning glory disc of the expected size of 117 base pairs obtained. corresponding to the recoverin sequence. anomaly. Endometrial carcinoma from a patient without Corresponding author: Gra- visual symptoms did not produce any PCR zyna Adamus, PhD, R. S. Dow Neu- Report of a Case. A 5-year-old Asian product (not shown). rological Sciences Institute, 1220 NW boy was evaluated for decreased vi- 20th Ave, Portland, OR 97209 (e- sion in the left eye of unknown du- mail: [email protected]). ration. His birth, developmental, and til now, antirecoverin antibodies medical histories were unremark- 1. Polans A, Witkowska D, Haley T, Amundson D, have only been demonstrated in pa- Baizer L, Adamus G. Recoverin, a photoreceptor- able. Visual acuity was 20/25 OD and tients with small cell carcinoma of specific calcium binding protein, is expressed by 20/100 OS. A left relative afferent pu- the tumor of a patient with cancer-associated reti- the lung. This case is unique in 2 re- nopathy. Proc Natl Acad SciUSA.1995;92:9176- pillary defect was present. Fundu- spects. First, to our knowledge this 9180. scopic examination in the left eye is the first time that an endometrial 2. Campo E, Brunier MN, Merino MJ. Small car- (Figure 1) revealed a morning glory cinoma of the endometrium with associated ocu- cancer in a patient with CAR has lar paraneoplastic syndrome. Cancer. 1992;69: disc anomaly, a persistent hyaloid ar- been shown to express messenger 2283-2288. tery, and a chronic macular hole ac- RNA for recoverin, suggesting that 3. Crofts JW, Bachynski BN, Odel JG. Visual para- companied by rhegmatogenous reti- neoplastic syndrome associated with undiffer- the aberrant expression of this pro- entiated endometrial carcinoma. Can J Ophthal- nal detachment limited to the tein, normally expressed only in the mol. 1988;23;128-132. posterior pole. 4. Ohkawa T, Kawashima H, Makina S, et al. Can- eye, might have triggered the abnor- cer-associated retinopathy in a patient with en- A magnetic resonance imag- mal immune response. Also novel is dometrial cancer. Am J Ophthmol. 1996;122:740- ing scan and magnetic resonance an- the documentation of persistent el- 742. giogram of the brain disclosed nar- 5. Adamus G, Machnicki M, Seigel GM. Apop- evated level of antirecoverin anti- totic retinal cell death induced by autoantibod- rowing of the left intracranial carotid bodies in the serum after the pre- ies of cancer associated retinopathy. Invest Oph- artery and its bifurcation into middle sumed source of autoantigen thal Vis Sci. 1997;38:283-291. and anterior cerebral arteries. The (recoverin in endometrial cells) had lenticulostriate arteries were in- been removed. creased in size, consistent with moy- Our recent studies have shown amoya vessels (Figure 2). that antirecoverin autoantibodies Morning Glory Disc could penetrate living cells and trig- Anomaly and Comment. Moyamoya disease is a ger retinal cell death that occurs Moyamoya Vessels rare cerebrovascular disorder of un- through an apoptotic mechanism.5 known etiology characterized by If antibodies play a causative role in The morning glory disc anomaly progressive bilateral stenosis or oc- the syndrome, the prolonged pres- comprises a congenital excavation of clusion of the distal internal ca- ence of serum antibodies in the cir- the peripapillary fundus, enlarge- rotid arteries.2 The stenosis can culation is detrimental and should ment of the optic disc, anomalous progress to involve the proximal an-

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©1998 American Medical Association. All rights reserved. Downloaded From: https://jamanetwork.com/ on 10/02/2021 branch occlusions of the ipsilateral middle cerebral arteries associated with moyamoya vessels in the region of the basal ganglia. A second patient with a morning glory disc anomaly had a history of multiple facial hemangiomas. Carotid angiography disclosed occlusion of the ipsilateral internal carotid artery at its origin with reconstitution intracra- nially via an enlarged branch of the right internal maxillary artery. Our patient confirms the asso- Figure 2. Coronal reconstruction of 3-dimensional time-of-flight magnetic resonance angiography, with ciation of moyamoya vessels with the segmentation to show the anterior circulation of the carotid arteries, demonstrates a decrease in size of the caliber of the left internal carotid artery relative to the normal-sized right internal carotid artery with morning glory disc anomaly and more focal marked narrowing of the distal portion (long arrow). The bifurcation into middle and anterior strengthens the argument that an in- cerebral arteries is also involved and markedly narrowed. There is an increase in the size of the tracranial vascular dysgenesis may lenticulostriate arteries (short arrow) producing a moyamoya appearance at this site. underlie at least some cases of the morning glory disc anomaly. Mag- terior and middle cerebral arteries. distinguish the morning glory disc netic resonance angiography is a Progressive brain ischemia triggers anomaly from other excavated op- noninvasive screening technique formation of a collateral vascular net- tic disc anomalies such as optic disc that is widely available. We advo- work in the basal ganglia region re- coloboma and peripapillary staphy- cate its use in conjunction with rou- ferred to as moyamoya vessels. The loma.1 With rare exceptions, the cen- tine magnetic resonance imaging to disorder is more common in Asians, tral retinal vasculature is ophthal- identify and further define the preva- and the name moyamoya derives moscopically absent in the morning lence of intracranial vascular anoma- from the Japanese term for “puff of glory disc anomaly. The major reti- lies of the carotid system in pa- smoke,” which describes the angio- nal vessels curve abruptly as they tients with anomalous optic discs of graphic appearance of the abnor- emerge from the periphery of the op- the morning glory variety. mal vessels. The most common clini- tic disc, then run an abnormally cal features are transient ischemic straight course over the peripapil- Mina Massaro, MD attacks and stroke in children but in- lary retina. The vessels appear to be Olafur Thorarensen, MD tracranial hemorrhage in adults. The increased in number, and it may be Grant T. Liu, MD natural history of unilateral moya- difficult to distinguish arterioles Albert M. Maguire, MD moya vessels is unknown, and the from venules. Arteriovenous com- Robert A. Zimmerman, MD prognosis depends on the condi- munications frequently intercon- Philadelphia, Pa tion of the circle of Willis and its nect the major retinal vessels, Michael C. Brodsky, MD ability to provide blood from the un- producing a rosette or arcade ap- Little Rock, Ark affected side. pearance on fluorescein angiogra- Moyamoya is usually an idio- phy. The anatomical basis of this Reprints: Grant T. Liu, MD, Hospital pathic disorder, or is sometimes anomalous retinovascular system is of the University of Pennsylvania, acquired in the setting of cranial ir- speculative, since all histopathologi- 3400 Spruce St, Philadelphia, PA radiation or atherosclerosis. How- cal descriptions have lacked clini- 19104. ever, moyamoya vessels can be as- cal confirmation. sociated with underlying congenital The association of morning 1. Brodsky MC. Congenital optic disc anomalies. conditions such as neurofibroma- glory disc anomaly with intracra- Surv Ophthalmol. 1994;39:89-112. 2. Yonekawa Y, Goto Y, Ogata N. Moyamoya dis- tosis, tuberous sclerosis, sickle cell nial vascular anomalies is probably ease: diagnosis, treatment, and recent achieve- anemia, Down syndrome, saccular underrecognized, since carotid an- ment. In: Barnett HJM, Stein BM, Mohr JP, Yatsu FM, eds. Stroke: Pathophysiology, Diagnosis and aneurysms, and arteriovenous mal- giography is rarely performed in Management. 2nd ed. New York, NY: Churchill 2 3 formation. Our patient had none of these individuals. Hanson et al de- Livingstone Inc; 1992:721-747. these disorders. scribed a 9-year-old girl with a morn- 3. Hanson MR, Price RL, Rothner AD, Tomsak RL. Developmental anomalies of the optic disc and Anomalous retinal vascula- ing glory disc anomaly in whom ca- carotid circulation: a new association. J Clin ture is one of several features that rotid angiography disclosed multiple Neuro-ophthalmol. 1985;5:3-8.

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