Download Ophthalmic Artery Ischemic Syndrome Associated With

and function in patients with genetically confirmed SCA1.
Our data suggest that ATXN1 should be screened in all
patients with SCA and decreasing vision. The findings
extend the range of ophthalmologic phenotypes and provide important information to assist the management of
families in whom SCA1 is suspected.
Veronika Vaclavik, MD
François-Xavier Borruat, MD
Aude Ambresin, MD
Francis L. Munier, MD
Author Affiliations: Department of Ophthalmology, Hôpitaux Universitaires, Geneva (Dr Vaclavik), and JulesGonin Eye Hospital, University of Lausanne, Lausanne
(Drs Vaclavik, Borruat, Ambresin, and Munier), Switzerland.
Correspondence: Dr Munier, Jules-Gonin Eye Hospital, Avenue de France 15, 1004 Lausanne, Switzerland
([email protected]).
Author Contributions: Drs Vaclavik and Borruat contributed equally to the work and share first authorship.
Conflict of Interest Disclosures: None reported.
Funding/Support: This work was supported by grant
320030-127558 from the Swiss National Science Foundation (Dr Munier).
Previous Presentation: This paper was presented at the
Atlantic Coast Fan Club Meeting; January 20, 2012;
New York, New York; and the Société Française
d’Oculogénétique Francophone Annual Meeting; December 2-3, 2011; Lausanne, Switzerland.
1. Taroni F, DiDonato S. Pathways to motor incoordination: the inherited ataxias.
Nat Rev Neurosci. 2004;5(8):641-655.
2. Pula JH, Gomez CM, Kattah JC. Ophthalmologic features of the common
spinocerebellar ataxias. Curr Opin Ophthalmol. 2010;21(6):447-453.
3. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol.
2004;3(5):291-304.
4. Rivaud-Pechoux S, Dürr A, Gaymard B, et al. Eye movement abnormalities
correlate with genotype in autosomal dominant cerebellar ataxia type I. Ann
Neurol. 1998;43(3):297-302.
5. Abe T, Abe K, Aoki M, Itoyama Y, Tamai M. Ocular changes in patients with
spinocerebellar degeneration and repeated trinucleotide expansion of spinocerebellar ataxia type 1 gene. Arch Ophthalmol. 1997;115(2):231-236.
6. Thurtell MJ, Biousse V, Newman NJ. Rod-cone dystrophy in spinocerebellar ataxia type 1. Arch Ophthalmol. 2011;129(7):956-958.
7. Garden GA, La Spada AR. Molecular pathogenesis and cellular pathology of
spinocerebellar ataxia type 7 neurodegeneration. Cerebellum. 2008;7(2):
138-149.
8. Birch DG, Wen Y, Locke K, Hood DC. Rod sensitivity, cone sensitivity, and
photoreceptor layer thickness in retinal degenerative diseases. Invest Ophthalmol Vis Sci. 2011;52(10):7141-7147.
9. Dueñas AM, Goold R, Giunti P. Molecular pathogenesis of spinocerebellar
ataxias. Brain. 2006;129(pt 6):1357-1370.
10. Siegert S, Cabuy E, Scherf BG, et al. Transcriptional code and disease map
for adult retinal cell types. Nat Neurosci. 2012;15(3):487-495, S1-S2.
Ophthalmic Artery Ischemic Syndrome
Associated With Neurofibromatosis
and Moyamoya Syndrome
W
e 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;
JAMA OPHTHALMOL/ VOL 131 (NO. 4), APR 2013
538
WWW.JAMAOPHTH.COM
©2013 American Medical Association. All rights reserved.
Downloaded From: http://jamanetwork.com/ on 05/05/2017
A
B
MCA
MCA
ICA
ICA
Vertebral arteries
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.
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.
A
Matthew T. Witmer, MD
Richard Levy, MD
Kaleb Yohay, MD
Szilard Kiss, MD
B
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.
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
Published Online: February 21, 2013. doi:10.1001
/jamaophthalmol.2013.2902
Author Affiliations: Departments of Ophthalmology
(Drs Witmer, Levy, and Kiss) and Neurology (Dr
Yohay), Weill Cornell Medical College, New York,
New York.
Correspondence: Dr Witmer, Department of Ophthalmology, Weill Cornell Medical College, 1305 York Ave,
11th Floor, New York, NY 10021 ([email protected]
.edu).
Conflict of Interest Disclosures: None reported.
Funding/Support: This work was supported by a departmental grant from Research to Prevent Blindness.
1. Scott RM, Smith ER. Moyamoya disease and moyamoya syndrome. N Engl
J Med. 2009;360(12):1226-1237.
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):356-357.
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):823-825.
4. Barrall JL, Summers CG. Ocular ischemic syndrome in a child with moyamoya disease and neurofibromatosis. Surv Ophthalmol. 1996;40(6):500-504.
5. Slamovits TL, Klingele TG, Burde RM, Gado MH. Moyamoya disease with central retinal vein occlusion: case report. J Clin Neuroophthalmol. 1981;1(2):
123-127.
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):169-173.
JAMA OPHTHALMOL/ VOL 131 (NO. 4), APR 2013
539
WWW.JAMAOPHTH.COM
©2013 American Medical Association. All rights reserved.
Downloaded From: http://jamanetwork.com/ on 05/05/2017