Morning Rounds

A Haircut
to Hide Her Eye
by valliammai muthappan, md, and nicholas mahoney, md
edited by steven j. gedde, md

ary Graver* was looking forward to starting high school. There

was just one problem: Her left upper eyelid was blocking her
vision. The pleasant 14-year-old told us that she was concerned
with the appearance of her eyelid, and she made sure we understood that she was eager to have surgery to correct the ptosis
before she started ninth grade in the fall.

n i c h o l a s m a h o n e y, m d

Mary was accompanied to our

oculoplastics clinic by her mother,
who told us that she first noticed the
eyelid droopiness when Mary was
about 4 years old and that it seemed to
have become progressively worse over
the years. The eyelid also appeared
to droop more when Mary was tired,
Mrs. Graver said. When this happened,
Mary had to tilt her head up to see
things. This was beginning to bother
Mary to the extent that she had her
hair styled into asymmetric bangs to
hide her left eye.
Our Patients History
Marys history included myopia, for
which she wore glasses and contacts,
and a lazy eye. Although her lazy eye
was evident when she was an infant,
she had not been consistently followed
by an ophthalmologist. One of Marys
three sisters also had a lazy eye but no
eyelid abnormalities. Marys mother
had a history of depression and thyroid
disease, but she was not forthcoming
about the details.
Mary was first examined by an ophthalmologist when she was 7. At that

time, she voiced similar complaints of

a droopy left upper eyelid. The ophthalmologist noted that she had left
upper lid ptosis and severely restricted
ocular movement. Given her age and
ocular motility abnormalities, he expressed concern regarding potential
chronic progressive external ophthalmoplegia, and he referred Mary to a
pediatric ophthalmologist for further
evaluation. However, Mrs. Graver did

not follow through with this recommendation, and we were the next ophthalmologists to examine Mary.
Mary was otherwise healthy and
not on any medications.
We Get a Look
When we examined her, Marys visual
acuity with correction was 20/15 in
her right eye and 20/70 with pinhole
improvement to 20/40 in her left. Her
pupils were briskly reactive with no
relative afferent pupillary defect. Her
ocular movements were limited in the
right eye to 20 percent in all directions
of gaze. In the left eye, the limitation
was more severeno supraduction or
adduction was noted, but 20 percent of
infraduction and 60 percent of abduction remained (Fig. 1).

W ha t s Yo ur D iag n o sis ?
1

ALL DIRECTIONS. The patients ocular movements were severely limited.

e y e n e t

47

Mor ning Rounds

There was 2 mm of ptosis in the
right eye and 7 to 8 mm of ptosis in the
left eye, with intact levator function on
the right side and minimal function
on the left. In addition, Mary had significant brow elevation on both sides.
The remainder of her exam appeared
unremarkable.
Pinning It Down
At this point, our differential diagnosis
included chronic progressive external
ophthalmoplegia, myasthenia gravis,
orbital fibrosis syndrome, and thyroid
eye disease. We undertook further
testing in the clinic and noted a positive Cogan lid twitch in both eyes as
well as worsening of ptosis in upgaze.
Marys ptosis also improved bilaterally after the application of ice for two
minutes.
We referred Mary to pediatric
neurology for further evaluation and
management. Her thyroid-stimulating
hormone results came back within
normal limits, but blood serology for
the acetylcholinesterase receptor binding antibody was positive. Electromyography (EMG) showed a decreased
response with repetitive nerve stimulation, confirming the diagnosis of ocular myasthenia gravis.
Mary was to return to the neurology clinic in order to start pyridostigmine (Mestinon). She did not keep her
appointment either with them or with
us and was lost to follow-up.
Overview
Myasthenia gravis can mimic other
clinical entities, resulting in a delay in
diagnosis and treatment. It is important to note that ophthalmologists are
often the first physicians to diagnose
this disease, as half of affected patients
present with ocular manifestations at
onset. Thus, we must be highly sensitive to the possibility of this diagnosis.
Signs and symptoms. The most
common ocular sign is unilateral or
bilateral ptosis, followed by diplopia
and ocular movement abnormalities.
Many of these symptoms worsen with
fatigue. In addition, weakness of the
orbicularis oculi muscle may occur;
the presence of this symptom should
48

a u g u s t

2 0 1 2

help differentiate myasthenia gravis

from other conditions.
Thyroid eye disease occurs in
about 5 percent of myasthenia gravis
patients, and 10 percent of patients
have thymomas.1 The pupil is never involved in myasthenia gravis; any pupil
abnormalities require an investigation
of other disease processes.
Systemic involvement. Nearly 85
percent of patients with ocular myasthenia gravis go on to develop systemic
disease over the next two years. Systemic involvement leads to difficulty
chewing, swallowing, breathing, and
extending proximal muscles.
The dysphagia and dyspnea can be
life threatening and require prompt
medical attention.
Pediatric issues. Myasthenia gravis
in patients under age 19 usually pre
sents with symptoms similar to those
seen in our patient, notably ptosis
and asymmetric ophthalmoplegia.
Children are less likely than adults to
progress to systemic disease, particularly if they are initially affected prior
to puberty.2
Diagnostic Testing
Many diagnostic tests for myasthenia
gravis exist, and diagnosis and treatment is similar in children and adults.
Noninvasive tests. A simple and
common in-office test with high
specificity and sensitivity is the ice
test, in which an ice pack is applied to
the closed eyes for two minutes. If the
ptosis improves, the test is considered
positive. Similarly, another simple test,
the rest test, assesses ptosis after the
patient has rested quietly with eyes
closed for 30 minutes. These tests are
most useful when the patient presents
with ptosis.3
Edrophonium. IV administration of
acetylcholinesterase inhibitors can also
be done in the clinic. Edrophonium
(Tensilon, Reversol) and neostigmine
methylsulfate (Prostigmine) are commonly used. These tests are useful
for patients who present with ocular
movement abnormalities.
Common side effects of the drugs
include increased salivation and diarrhea. Rare, serious side effects include

bradycardia, respiratory arrest/bronchospasm, and cholinergic crisis. IV

atropine sulfate is an effective antidote
and should be readily available when
these tests are performed.4
Blood serology. Blood tests may be
performed to detect one of the three
anti-acetylcholine receptor antibodies: binding, blocking, or modulating.
Binding antibodies are present in 90
percent of patients with generalized
myasthenia and 50 percent with ocular
myasthenia. If results for binding antibodies are negative, the other types
of receptor antibodies can be tested.
If all the receptor antibodies are negative, testing can be done for anti-MuSK
(muscle-specific kinase) antibodies.
Nerve stimulation. Electromyographic repetitive nerve stimulation
shows a classic decremental response,
particularly in patients with systemic
disease. Single-fiber EMG is a similar, very sensitive test for myasthenia
gravis. Both can be used to confirm a
clinical diagnosis.
Treatment
Treatment varies according to symptoms and includes acetylcholinesterase
inhibitors (such as Mestinon, as was
recommended for our patient); corticosteroids, with or without steroidsparing immunosuppressants; and
immune-modulating agents. If a thymoma is present, it can be surgically
excised, although the benefit is unclear
in ocular disease.
* Patients name is fictitious.
1 Basic and Clinical Science Course, Section 5:
Neuro-ophthalmology. San Francisco; AAO;
2010: 328-331.
2 Finnis MF, Jayawant S. Autoimmune Dis.
Epub 2011 Nov. 1. doi: 10.4061/2011/404101.
3 Kubis KC et al. Ophthalmology. 2000;
107(11):1995-1998.
4 Benatar M. Neuromuscul Disord. 2006;
16(7):459-467.
Dr. Muthappan is a third-year ophthalmology
resident and Dr. Mahoney is assistant professor of oculoplastics; both are at the Wilmer Eye
Institute in Baltimore. The authors report no
related financial interests.