Download Dao, L - American Academy of Optometry

American Academy of Optometry 2015
Residents Day Proposal
Primary Author: Long Dao, O.D.
Secondary Author: Sarah Arneal, O.D.
Northport VAMC 08/28/15
[email protected]
Chronic Progressive External Ophthalmoplegia: A Diagnosis of Exclusion
Abstract
Chronic progressive external ophthalmoplegia (CPEO) is a condition that often results in ptosis
and progressive paralysis of the extraocular muscles. It is a rare condition in the spectrum of
mitochondrial myopathies which have overlapping ocular signs and symptoms. As a diagnosis of
exclusion, it should be considered when all other differentials are ruled out. Although there is no
treatment, a multidisciplinary healthcare team should be considered in managing a patient with
this condition.
I. Case History:
Patient Demographics: 45-year-old African American male
Chief Complaint: Ocular health evaluation as a new patient. He complains of binocular diagonal
diplopia at distance and near, poor depth perception and an inability to focus for near point tasks.
Pertinent Ocular History:
 Diagnosed with chronic progressive external ophthalmoplegia by outside provider
 Symptom onset >24 years ago and progressive over time
 S/P exotropia strabismus surgery OS and bilateral ptosis repair
 Review of traumatic brain injury symptoms was symptomatic for dizziness, reduced
concentration ability, and poor coordination, which were not attributable to any specific
event
 Onset of symptoms was not correlated to prior active duty military service
 Past neurological workup and MRI revealed no white matter lesions consistent with
multiple sclerosis or amyotrophic lateral sclerosis
Medical History:
 Fibromyalgia
 Chronic lower back pain
 Vitamin D deficiency
 Post-traumatic stress disorder
 Atypical angina/chest pain
Medications:
 Cyclobenzaprine HCl 10mg
 Trazadone HCl 50mg
 Ergocalciferol 50000 unit cap
 Setraline HCl 50mg
II. Pertinent Findings:
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Initial Exam:
Habitual Rx: single vision distance
o OD: +1.00-3.25x180
o OS: +1.00-3.75x180
o 4^ BO split evenly
BCVA: OD 20/25+2, OS 20/30+2
Near Point of Convergence: 15/20 inches + diplopia
Cover Test:
o Distance: ortho
o Near: 4-6^ constant left exotropia
Pupils: PERRL (-) APD
EOMs: significant gaze restriction in all quadrants OS>OD
Confrontation visual field: FTFC OD/OS
Binocular Testing at Near: unable to maintain motor fusion, poor distance and near
vergence ranges, mild hyperphoric deviation
IOP: 14/16 @ 11:15 AM
Anterior Segment Findings: bilateral 2mm ptosis OD/OS
Posterior Segment Findings:
o Optic Nerve: 0.65, physiologically large ONH with PPA OD/OS
o Macular: clear and flat OD/OS
o Periphery: flat/intact, no holes or tears 360 degrees OD/OS
III. Differential Diagnosis:
Chronic progressive external ophthalmoplegia is part of a spectrum of disorders characterized by
ptosis and progressive bilateral ocular immobility. Other ptosis differentials include third cranial
nerve palsy, ocular myasthenia gravis or Horner’s syndrome. Extraocular motility restriction is
characteristic for thyroid eye disease and ocular myositis. Significant pain, proptosis, or pupil
involvement is not characteristic of chronic progressive external ophthalmoplegia, and therefore
warrants evaluation of the aforementioned alternative etiologies.
IV. Diagnosis and Discussion:
Chronic progressive external ophthalmoplegia is a mitochondrial myopathy associated with
deletions or point mutations of mitochondrial DNA. Skeletal muscle biopsy is the diagnostic test
of choice in CPEO patients. Histologically, extraocular muscles have a “ragged-red fiber”
appearance due to an accumulation of abnormal mitochondria. Patients present with bilateral,
and occasionally asymmetrical, ptosis. Ophthalmoparesis begins in early adulthood and occurs
months to years later following the onset of eyelid ptosis, with gradual progression over time.
Extraocular motility becomes virtually fixed as vertical and lateral gazes are affected. Diplopia is
not often reported, but may occur due to ocular misalignment.
V. Treatment/ Management:
Currently there are no treatments for chronic progressive external ophthalmoplegia. Patients with
this condition are often managed with surgical correction for eyelid ptosis and strabismus. Due to
orbicularis oculi weakness, inability to close the eyelids may lead to exposure keratopathy,
which must be accounted for during ptosis repair surgery. On the other hand, a ptosis crutch can
be considered as a non-surgical option as well. Patients symptomatic for diplopia due to
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asymmetrical ophthalmoplegia or ocular misalignment may sometimes be corrected with prism
for improved motor fusion. Adaptive scanning and searching orthoptics techniques may provide
compensatory training for the limited extraocular motility. Because of the possibility of KearnsSayre Syndrome with associated pigmentary retinopathy and heart block, all patients suspicious
for chronic progressive external ophthalmoplegia should undergo a dilated fundus examination
and cardiologic screening.
VI. Conclusion:
Due to the extremely low prevalence of chronic progressive external ophthalmoplegia, it is a
diagnosis of exclusion and should only be considered when all other differential diagnoses have
been ruled out. Clinicians should recognize that patients with this condition have ocular
manifestations including ptosis and ophthalmoplegia, which requires specialized optometric
management. In addition to ophthalmic manifestations, its classification as a mitochondrial
myopathy is linked to serious systemic conditions including ataxia, deafness, endocrine problems
and sudden cardiac death. Therefore is it important for eye care providers to recognize and
consider appropriate patient co-management with other healthcare professionals.
References
1. Richardson, C., Smith, T., Schaefer, A., Turnbull, D. and Griffiths, P. Ocular motility
findings in chronic progressive external ophthalmoplegia. Eye 2005; 19, 258-263.
2. Yu Wai Man, C.Y., Smith, T., Chinnery, P.F., Turnbull, D.M. and Griffiths, P.G. Assessment
of visual function in chronic progressive external ophthalmoplegia. Eye 2006; 20, 564-568.
3. Lee, Andrew G. and Brazis, Paul W. Chronic Progressive External Ophthalmoplegia. Current
Neurology and Neuroscience Reports 2002; 2 (5), 413-417.
4. Alexander, Fraser, Biousse, Valerie, and Newman, Nancy. The Neuro-Ophthalmology of
Mitochondrial Disease. Survey of Ophthalmology 2010; 55 (4) 299-334.
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