Survey
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
* Your assessment is very important for improving the workof artificial intelligence, which forms the content of this project
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: 1 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 2 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. 3