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Woman referred for recurrent bilateral ptosis
The patient was now experiencing eye pain and a decrease in vision. She was unable to close her right eye.
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A 49-year-old woman was referred by her primary care provider for further management of long-standing ptosis, with new onset of decreased vision, eye pain and an inability to close her right eye. She had a history of multiple eyelid surgeries, including bilateral levator advancement 25 years ago, lower eyelid external tarsoaponeurectomies 20 years ago and multiple revisions for each of these surgeries. Six months prior, she underwent bilateral frontalis suspensions. Over the past several months, she developed increasing eye pain despite aggressive lubrication, along with decreased vision of the right eye.
The patient’s medical history was significant for asthma, fibromyalgia and chronic sinusitis. No family members had ptosis or muscle weakness. Medications included amitriptyline, gabapentin and cetirizine. Eye medications included preservative-free artificial tears every hour and ointment at night. Review of systems was significant for occasional dysphagia and chronic sinus infections.
Examination
 Isabel M. Balderas |  Tom Hsu |
Vision with spectacles measured 20/50 in the right eye and 20/25 in the left eye. Pupils were round and reactive to light without afferent pupillary defect, and IOP was 16 mm Hg bilaterally. Severe limitations of eye movements were noted in all gazes of direction with a greater deficit in horizontal gazes (10% to 15%) than vertical gazes (20% to 25%) (Figures 1a and 1b).
Marginal reflex distance measured 1 mm on the right and 0 mm on the left (Figure 2a). Palpebral fissure measurements were 6 mm on the right and 2 mm on the left. Poor levator function was noted bilaterally, and no lid creases were appreciated. The patient had excellent frontalis function, but she had limited orbicularis function with a poor ability to close her right eye. Lagophthalmos of 2 mm to 3 mm was noted on gentle lid closure (Figure 2b). A palpable silicone sleeve was present in the region of her right frontalis muscle.
On slit lamp examination, the patient had moderate inferior superficial punctuate staining of the right cornea. No pigmentary retinopathy was present on dilated exam. Significant superior field defects were noted on tangent screen, with improvement of the fields with taping of the upper eyelids.
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Images: Yoon SJ, Heher KL |
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What is your diagnosis?
Recurrent ptosis
The patient demonstrated a slowly progressive symmetric ophthalmoplegia and ptosis. The differential diagnosis included chronic progressive external ophthalmoplegia, Kearns-Sayre syndrome, oculopharyngeal dystrophy, myotonic dystrophy, myasthenia gravis and other various forms of congenital myopathies.
Oculopharyngeal dystrophy is an autosomal dominant disorder with onset in the fifth or sixth decade of life, and it is characterized by progressive bilateral ptosis, dysphagia and proximal muscle weakness. It is classically seen in those with French-Canadian ancestry. Although our patient had occasional dysphagic symptoms, her early onset of symptoms and lack of both family history and French-Canadian ancestry were inconsistent with oculopharyngeal dystrophy.
Chronic progressive external ophthalmoplegia is an inherited mitochondrial myopathy characterized by the progressive paralysis of the extraocular muscles and symmetric ptosis. Clinical findings develop in the second decade of life and are characterized by constant progression without periods of remission or exacerbation. The patient was diagnosed with chronic progressive external ophthalmoplegia by muscle biopsy in her third decade and now was suffering from significant lagophthalmos and exposure keratopathy as a result of overcorrection of a frontalis suspension on the right.
Discussion
The bilateral symmetric ptosis of chronic progressive external ophthalmoplegia precedes the ophthalmoplegia by months to years. Patients may compensate with frontalis function and chin-up positions. Despite ophthalmoplegia, diplopia is usually not reported. Downward gaze tends to be preserved to a greater extent than upward or horizontal gazes. Poor levator and orbicularis functions are noted in these patients. Skeletal muscle weakness or neurologic features such as dementia, seizures, myoclonus or stroke-like episodes may also be associated.
The pathogenesis of chronic progressive external ophthalmoplegia is thought to be caused by mutations in the mitochondrial DNA affecting the mitochondrial respiratory chain, resulting in elevated levels of serum lactate, pyruvate and CPK. All modes of inheritance are noted. However, sporadic inheritance is most common. Extraocular muscles are affected preferentially because the ratio of mitochondrial volume is higher than in other skeletal muscles. On muscle biopsy of tissues, abnormal accumulations of enlarged mitochondria located beneath the sarcolemma are classically seen. These “ragged-red” fibers are the histological hallmark of mitochondrial encephalomyopathies. Impairment in cytochrome-c oxidase can be demonstrated by immunohistochemical demonstration of COX-negative fibers.
Various systemic syndromes with chronic progressive external ophthalmoplegia have been characterized by the various organ systems involved. Kearns-Sayre syndrome is characterized by retinal degeneration in a salt-and-pepper pattern before age 15 years and associated with complete heart block, ataxia or elevated CSF protein. Ophthalmoplegia in these cases precedes the development of cardiac conduction deficits, and appropriate interdisciplinary work-up may be paramount in preventing lethal progression of the disease.
In management of patients with chronic progressive external ophthalmoplegia, coenzyme Q and other vitamin supplementation to enhance the mitochondrial respiratory chain have failed to show any benefit in larger studies. Prism therapy and strabismus surgery in selected cases may benefit some patients. Surgical repair of ptosis is notoriously difficult secondary to the high risk of exposure keratopathy. The poor lid closure because of weak orbicularis function and the loss of the Bell’s reflex increases the risk of exposure keratopathy. If adequate levator function is present, levator advancement may be attempted, and if significant blepharochalasis is present, this may be excised. Frontalis suspension may be the preferred operation for most of these patients with early onset ptosis with poor levator function.
Treatment
Our patient had a history of long-standing chronic progressive external ophthalmoplegia with multiple eyelid surgeries, overcorrection of the right upper lid with resulting lagophthalmos and exposure keratopathy. Repair of the prior frontalis suspension was performed by removing the silicone sling, and the lid crease was recreated by attaching the orbicularis to the superior aspect of the tarsus. Postoperative results were promising, with resolution of the lagophthalmos and keratopathy at the 6-month follow-up visit.
For more information:
- Steven J. Yoon, MD, and Katrinka L. Heher, MD, can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com.
- Edited by Isabel M. Balderas, MD, and Tom Hsu, MD. Drs. Balderas and Hsu can be reached at New England Eye Center, Tufts University School of Medicine, 750 Washington St., Box 450, Boston, MA 02111; 617-636-4219; fax: 617-636-4866; Web site: www.neec.com. Drs. Balderas and Hsu have no direct financial interest in the products mentioned in this article, nor are they paid consultants for any companies mentioned.
References:
- Bau V, Zierz S. Update on chronic progressive external ophthalmoplegia. Strabismus. 2005;13(3):133-142.
- Caballero PE, Candela MS, Alvarez CI, Tejerina AA. Chronic progressive external ophthalmoplegia: a report of 6 cases and a review of the literature. Neurologist. 2007; 13(1):33-36.
- Pramanik S, Nerad JA. Chronic progressive external ophthalmoplegia (CPEO) – Kearns-Sayre syndrome: 12 y.o. boy with painless, progressive ptosis OU over 3 years. EyeRounds.org. 2005. Available at: http://webeye.ophth.uiowa.edu/eyeforum/cases/case24.htm.
- Richardson C, Smith T, et al. Ocular motility findings in chronic progressive external ophthalmoplegia. Eye. 2005;19(3):258-263.
- Soejima K, Sakurai H, et al. Surgical treatment of blepharoptosis caused by chronic progressive external ophthalmoplegia. Ann Plast Surg. 2006;56(4):439-442.