Ocular Malformations, Moyamoya
Disease, and Midline Cranial Defects:
A Distinct Syndrome
Sophie J. Bakri, BM, BS, Daniel Siker, MD,
Thomas Masaryk, MD, Mark G. Luciano, MD,
and Elias I. Traboulsi, MD
PURPOSE: To report a 10-year-old girl with developmental
anomalies of both optic disks, a chorioretinal coloboma,
sphenopharyngeal meningoencephalocele, and moyamoya disease.
METHODS: A full ophthalmologic examination, cranial
magnetic resonance imaging and magnetic resonance
angiography, and cerebral angiography were performed.
RESULTS: The patient had a morning glory disk anomaly and microphthalmos of the right eye and optic
nerve hypoplasia and retinochoroidal coloboma in the
left eye. She had a midfacial cleft and an episode of
seizures and a stroke. Magnetic resonance imaging
showed a sphenopharyngeal meningoencephalocele.
Magnetic resonance angiography and cerebral angiography demonstrated a pattern consistent with moyamoya disease.
CONCLUSIONS: This patient had a distinct syndrome of
optic disk, retinochoroidal, and carotid circulation anomalies with midline cranial defects. The recognition and
treatment of the vascular abnormalities and cranial defects may prevent complications such as strokes that may
occur during or after general anesthesia
(Am J Ophthalmol 1999;127:356 –357. © 1999 by Elsevier Science Inc. All rights reserved.)

C

AVITARY OPTIC DISK MALFORMATIONS INCLUDE

optic nerve pit, morning glory disk anomaly, and
optic nerve dysplasia.1 They have been associated with systemic abnormalities such as midline facial
defects, congenital forebrain abnormalities, agenesis of
the corpus callosum, hypertelorism, and renal anomalies, as well as retinal detachment and subretinal hemorrhages.
A 10-year-old girl was evaluated for right esotropia and
horizontal pendular nystagmus at age 6 months. She was
found to have a morning glory disk anomaly, decreased
corneal diameter, and microphthalmos in her right eye.
There was optic nerve hypoplasia and an inferior V-shaped

Accepted for publication Aug 31, 1998.
From the Departments of Pediatric Ophthalmology and Strabismus
(S.J.B., E.I.T), Anesthesiology (D.S.), Radiology (T.M.), and Pediatric
Neurosurgery (M.G.L.), and the Center for Genetic Eye Diseases (S.J.B.,
E.I.T), The Cleveland Clinic Foundation, Cleveland, Ohio.
Inquiries to Elias Traboulsi, MD, Cleveland Clinic Foundation Eye
Institute, 9500 Euclid Ave, Cleveland, OH 44195; fax: (216) 445-8475;
e-mail: traboue@cesmtp.ccf.org

356

retinochoroidal coloboma in her left eye (Figure 1). Visual
acuity was RE: 3/200 and LE: 20/40. She had hypertelorism
and a mild midfacial cleft with furrowing of the upper lip.
At age 10 years, the patient presented with a 48-hour
history of spasmodic movement of the left upper and
lower extremities and severe frontal headache. Magnetic resonance imaging disclosed a sphenopharyngeal
meningoencephalocele. One month later, she had a
stroke. Magnetic resonance angiography and cerebral
angiography (Figure 2) showed occlusion of the M1
branch of the right and left middle cerebral arteries and
reconstitution of the middle cerebral artery more distally, with delayed filling via tortuous lenticulostriate
collaterals and pial collaterals from the posterior cerebral artery. These findings were consistent with a
diagnosis of moyamoya disease.
Moyamoya, a Japanese word meaning “cloud of
smoke,” has been used extensively to refer to a network
of small, anastomotic vessels at the base of the brain
around the circle of Willis, along with stenosis or
segmental occlusion of the terminal parts of both
internal carotid arteries. It is a cause of childhood
stroke. Most patients present with weakness of a limb
and, less commonly, with convulsions, visual disturbances, nystagmus, and headache. Older patients tend
to present with subarachnoid hemorrhage.
Four previous cases of an association between optic
disk anomalies and carotid circulation anomalies have
been reported.2,3 The atypical infrapapillary V-shaped
retinochoroidal coloboma has been associated with
basal encephalocele in five patients4 and with an absent
ophthalmic artery in one patient.2 Our case strengthens
the association between morning glory syndrome, other
ocular malformations, midline cranial defects, and
moyamoya vessels. It also adds evidence that vascular
dysgenesis may be an underlying feature of morning
glory syndrome.5 In contrast to all previous cases with
unilateral moyamoya disease and morning glory disk
anomaly, our patient had bilateral moyamoya vessels
and a retinochoroidal coloboma with a hypoplastic optic
disk in the fellow eye.
This patient has a distinct syndrome of optic disk,
retinochoroidal, and carotid circulation anomalies with
midline cranial defects. Vascular and magnetic resonance imaging should be considered in patients with
optic disk malformations who present with severe and
persistent headaches, seizures, or strokes. Although
cerebral angiography is the definitive technique for
diagnosing moyamoya disease, less invasive methods
such as magnetic resonance angiography or transcranial
Doppler may be used. Neurosurgical revascularization
techniques are successful in moyamoya disease and
avoid the severe impairment from repeated strokes and
hemorrhage.

AMERICAN JOURNAL OF OPHTHALMOLOGY

MARCH 1999

FIGURE 1. (Left) Morning glory anomaly of right optic disk with central gliosis and straight vessels emanating from the disk.
(Right) Optic nerve hypoplasia with small optic nerve head and inferior V-shaped retinochoroidal coloboma in the left fundus.

FIGURE 2. Left and right carotid arteries and their branches. Note the bilateral stenosis of the middle cerebral artery, which is
reconstituted more distally through tortuous lenticulostriate collaterals (“moyamoya vessels”). The “puff of smoke” appearance
refers to the network of small anastomotic vessels.

REFERENCES

1. Traboulsi EI, O’Neill JF. The spectrum in the morphology of
the so-called “Morning Glory” anomaly of the optic disc.
J Pediatr Ophthalmol Strabismus 1988;25:93–98.
2. Massaro K, Thorarensen O, Liu GT, et al. Morning glory disc
anomalies and Moyamoya vessels. Arch Ophthalmol 1998;
116:253–254.
3. Hanson MR, Price RL, Rothner AD, Tomsak RL. Develop-

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mental anomalies of the optic disc and carotid circulation: a
new association. J Clin Neuroophthalmol 1985;5:3– 8.
4. Brodsky MC, Hoyt WF, Hoyt CS, Miller NR, Lam BL.
Atypical retinochoroidal coloboma in patients with dysplastic
optic discs and transsphenoidal encephalocele. Arch Ophthalmol 1995;113:624 – 628.
5. Brodsky MC. Congenital optic disc anomalies. Surv Ophthalmol 1994;39:89 –112.

BRIEF REPORTS

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