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Figure 1. Magnetic resonance image and magnetic resonance angiogram. A, Magnetic resonance image of the brain showing severe right-sided hemiatrophy with areas of laminar necrosis in the right frontal (arrow), parietal, occipital, and temporal lobes, indicative of a prior ischemic event. The cerebral ventricles are enlarged due to cerebral atrophy (arrowhead). B, Three-dimensional, time-of flight magnetic resonance angiogram revealing a moderately attenuated right internal carotid artery (ICA) (arrowhead) and severely attenuated right middle (arrow), posterior, and bilateral anterior cerebral arteries. MCA indicates middle cerebral artery.

Figure 1. Magnetic resonance image and magnetic resonance angiogram. A, Magnetic resonance image of the brain showing severe right-sided hemiatrophy with areas of laminar necrosis in the right frontal (arrow), parietal, occipital, and temporal lobes, indicative of a prior ischemic event. The cerebral ventricles are enlarged due to cerebral atrophy (arrowhead). B, Three-dimensional, time-of flight magnetic resonance angiogram revealing a moderately attenuated right internal carotid artery (ICA) (arrowhead) and severely attenuated right middle (arrow), posterior, and bilateral anterior cerebral arteries. MCA indicates middle cerebral artery.

Figure 2. Retcam (Clarity Medical Systems, Inc) color photograph and fluorescein angiogram. A, Retcam color photograph of the right eye showing a pale optic nerve (arrowhead), attenuated retinal arcade vessels, and severe chorioretinal scarring nasal to the optic nerve (arrow). B, Retcam fluorescein angiogram of the right eye at 1 minute demonstrating attenuation of the retinal vessels (arrowhead) as well as atrophy of the retinal pigment epithelium and choroidal (arrow) vasculature nasal to the optic nerve.

Figure 2. Retcam (Clarity Medical Systems, Inc) color photograph and fluorescein angiogram. A, Retcam color photograph of the right eye showing a pale optic nerve (arrowhead), attenuated retinal arcade vessels, and severe chorioretinal scarring nasal to the optic nerve (arrow). B, Retcam fluorescein angiogram of the right eye at 1 minute demonstrating attenuation of the retinal vessels (arrowhead) as well as atrophy of the retinal pigment epithelium and choroidal (arrow) vasculature nasal to the optic nerve.

1.
Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome.  N Engl J Med. 2009;360(12):1226-1237PubMedArticle
2.
Bakri SJ, Siker D, Masaryk T, Luciano MG, Traboulsi EI. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.  Am J Ophthalmol. 1999;127(3):356-357PubMedArticle
3.
Chen CS, Lee AW, Kelman S, Wityk R. Anterior ischemic optic neuropathy in moyamoya disease: a first case report.  Eur J Neurol. 2007;14(7):823-825PubMedArticle
4.
Barrall JL, Summers CG. Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis.  Surv Ophthalmol. 1996;40(6):500-504PubMedArticle
5.
Slamovits TL, Klingele TG, Burde RM, Gado MH. Moyamoya disease with central retinal vein occlusion: case report.  J Clin Neuroophthalmol. 1981;1(2):123-127PubMed
6.
Ushimura S, Mochizuki K, Ohashi M, Ito S, Hosokawa H. Sudden blindness in the fourth month of pregnancy led to diagnosis of moyamoya disease.  Ophthalmologica. 1993;207(4):169-173PubMedArticle
Research Letters
April 2013

Ophthalmic Artery Ischemic Syndrome Associated With Neurofibromatosis and Moyamoya Syndrome

Author Affiliations

Author Affiliations: Departments of Ophthalmology (Drs Witmer, Levy, and Kiss) and Neurology (Dr Yohay), Weill Cornell Medical College, New York, New York.

JAMA Ophthalmol. 2013;131(4):538-539. doi:10.1001/jamaophthalmol.2013.2902

We describe a 12-month-old girl with moyamoya syndrome and neurofibromatosis type 1 who developed profound, unilateral, ophthalmic artery ischemia. The association of moyamoya syndrome with ophthalmic artery ischemia is discussed.

Report of a Case

A 3-month-old girl with neurofibromatosis type 1 was diagnosed as having moyamoya syndrome when she exhibited seizures and, on cerebral angiography, demonstrated right internal carotid artery and middle cerebral artery stenosis with collateral vascularization. Brain magnetic resonance imaging revealed severe right-sided hemiatrophy with laminar necrosis in the right parietal, occipital, and temporal lobes, indicative of a prior ischemic event (Figure 1A). A magnetic resonance angiogram revealed an attenuated right internal carotid artery, severely attenuated right cerebral arteries, and a small right ophthalmic artery with diminished flow (Figure 1B).

At age 4 months, the patient was able to fix and follow in both eyes and exhibited no strabismus. The optic nerve and retinal examination findings were normal. At age 6 months, she underwent a pial synangiosis, a cerebral revascularization procedure in which a donor scalp artery is sutured to the surface of the brain.

Ophthalmic examination at age 12 months revealed a preference for the left eye and a right exotropia. A relative afferent pupillary defect was present in the right eye. Slitlamp examination findings were normal bilaterally.

Dilated funduscopic examination of the right eye revealed a clear vitreous, pale optic nerve, attenuated retinal vessels with abrupt termination of the vessels, and diffuse chorioretinal atrophy nasal to the optic nerve (Figure 2A). Dilated examination of the left eye showed a normal retina, choroid, and optic nerve. Fluorescein angiography of the right eye demonstrated loss of retinal pigment epithelium and atrophy of the choroidal vasculature nasal to the optic nerve, with attenuated retinal vessels (Figure 2B). Findings on fluorescein angiography of the left eye were normal.

Brain magnetic resonance angiography at age 12 months revealed increased stenosis of the right intracranial internal carotid artery and nonvisualization of the right ophthalmic artery.

Comment

Moyamoya syndrome predisposes patients to cerebrovascular ischemia as the result of stenosis of the intracranial portion of the internal carotid arteries and their proximal branches.1 The development of collateral circulation to compensate for the cerebral ischemia produces an image on cerebral angiography that has been described as a “puff of smoke,” or “moyamoya” in Japanese.

The pathogenesis of the condition is currently unknown, but a polygenic or autosomal dominant transmission with incomplete penetrance has been suggested. The condition has been associated with several disorders, including neurofibromatosis type 1, sickle cell disease, and Down syndrome.

Ophthalmic examination findings associated with moyamoya syndrome include isolated morning glory disc anomaly; a syndrome consisting of morning glory disc anomaly, optic nerve hypoplasia, chorioretinal coloboma, sphenopharyngeal meningoencephalocele, and midline cranial defects2; anterior ischemic optic neuropathy3; ocular ischemic syndrome, manifesting with neovascularization of the optic disc, venous dilation and beading, neovascularization of the retina vessels, and vitreous hemorrhage4; central retinal vein occlusion5; and central retinal artery occlusion.6

Our patient demonstrated severe optic nerve, retinal, and choroidal ischemia, indicative of an ophthalmic artery occlusion at age 1 year. The patient showed evidence of a prior unilateral stroke but had normal findings on retinal and optic nerve examination at age 4 months. We believe that the ocular ischemia occurred subsequent to this cerebral ischemic event. To our knowledge, this is the first description of a patient with evidence of retinal and choroidal infarction, and consequent necrosis, from ophthalmic artery ischemia associated with moyamoya syndrome and neurofibromatosis type 1. Counseling the patient and family regarding the possibility of development of contralateral disease was performed and close follow-up with neurology and neurosurgery was recommended.

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Article Information

Correspondence: Dr Witmer, Department of Ophthalmology, Weill Cornell Medical College, 1305 York Ave, 11th Floor, New York, NY 10021 (maw2052@med.cornell.edu).

Published Online: February 21, 2013. doi:10.1001/jamaophthalmol.2013.2902

Conflict of Interest Disclosures: None reported.

Funding/Support: This work was supported by a departmental grant from Research to Prevent Blindness.

References
1.
Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome.  N Engl J Med. 2009;360(12):1226-1237PubMedArticle
2.
Bakri SJ, Siker D, Masaryk T, Luciano MG, Traboulsi EI. Ocular malformations, moyamoya disease, and midline cranial defects: a distinct syndrome.  Am J Ophthalmol. 1999;127(3):356-357PubMedArticle
3.
Chen CS, Lee AW, Kelman S, Wityk R. Anterior ischemic optic neuropathy in moyamoya disease: a first case report.  Eur J Neurol. 2007;14(7):823-825PubMedArticle
4.
Barrall JL, Summers CG. Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis.  Surv Ophthalmol. 1996;40(6):500-504PubMedArticle
5.
Slamovits TL, Klingele TG, Burde RM, Gado MH. Moyamoya disease with central retinal vein occlusion: case report.  J Clin Neuroophthalmol. 1981;1(2):123-127PubMed
6.
Ushimura S, Mochizuki K, Ohashi M, Ito S, Hosokawa H. Sudden blindness in the fourth month of pregnancy led to diagnosis of moyamoya disease.  Ophthalmologica. 1993;207(4):169-173PubMedArticle
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