Burnstine, Michael; Greer, Christine; Lee, Diana K.; Kim, Jonathan W.
Purpose: Myopathic blepharoptoses (ptoses) is a complex group of disorders. To date, no formal categorization scheme has been developed based on associated ocular and systemic findings, genetic fingerprint, treatment, and prognosis for each ptosis in this group. We report a new classification scheme for myopathic ptoses.
Methods: Literature review and classification development.
Results: A new classification scheme of myopathic ptoses includes isolated static myopathic ptosis (congenital ptosis), static myopathic ptosis associated with aberrant innervation and those associated with periocular abnormalities, and progressive myopathic ptoses that affect the levator muscle and other muscle groups in childhood and adulthood.
Conclusions: Making the distinction of myopathic ptosis type early will maximize patient outcomes by optimizing surgical and systemic management and facilitating the recruitment of subspecialists to care for patients with these challenging conditions.
The authors present a comprehensive and effective myopathic ptosis classification scheme to optimize surgical management and facilitate subspecialty care.
Jenna Tauber, Daniel J. Polla, Sunju Park
Kearns-Sayre syndrome (KSS) is a rare mitochondrial DNA (mtDNA) deletion syndrome that typically presents before 20 years of age and is characterized by chronic progressive external ophthalmoplegia, pigmentary retinopathy, and a combination of cardiac conduction defects, cerebellar ataxia, and elevated cerebrospinal fluid protein levels. The mtDNA defects interfere with oxidative phosphorylation and can affect a number of cellular energy processes in various organs. We report the case of a 15-year-old girl with KSS that was uniquely associated with bilateral, symmetrical exophthalmos.
Rehan Rajput, Amun Sachdev, Nizar Din, Erika Marie Damato & Aidan Murray
Methods: We present a rare case with atypical presenting features of unilateral CPEO with a false positive Acetylcholine Receptor Antibody (AchRA) test resulting in diagnostic delay. We illustrate the unilateral nature of this case and demonstrate the caveats of performing myogenic ptosis correction in such patients. We also discuss the differential diagnosis of false positive AchRA, a test commonly performed in the investigation of ptosis.
Results: A 34-year old female presented with a more than 3-year history of slowly-progressive, unilateral, right-sided restriction in eye movements and ptosis. Clinical examination showed EOM were grossly restricted in the right eye with a ptosis and normal in the left eye. Serum AchRA was positive on serum enzyme-linked immunosorbent assay (ELISA) however, following two months of oral pyridostigmine therapy there were no signs of clinical improvement. The initial serum sample sent was retested for AchRA by radio-immunoassay (RIA) which came back negative. Subsequently a muscle biopsy was requested which showed the presence of ragged red fibres.
Conclusion: Unilateral ptosis and ophthalmoplegia is an unusual presentation for CPEO which characteristically produces bilateral symmetrical motility defects. In addition to Myasthenia Gravis elevated AchRA levels have been reported in other autoimmune conditions such as Primary biliary cirrhosis, Eaton Lambert syndrome and Graves’s ophthalmopathy. We also highlight the superiority of RIA versus ELISA in the detection of AchRA and illustrate the diagnostic challenge of investigating and managing myogenic ptosis in this complex cohort of patients.
Kaveh Vahdani, Katherine McVeigh, Rhys Harrison, Mandy Williams & Helen Garrott
Intracranial hypotension (ICH) is characterized by low cerebrospinal fluid pressure, postural headaches, and diffuse pachymeningeal enhancement on magnetic resonance imaging (MRI). A variety of ophthalmoparetic manifestations have been reported in the context of the ICH. The authors describe an unusual case of a 64-year-old woman who presented with rapid onset of headaches, bilateral upper-lid ptosis, and blurring of vision within 4 days after sustaining a trivial head injury. She was noted to have bilateral symmetrical ophthalmoplegia and ptosis-simulating chronic progressive external ophthalmoplegia. MRI revealed characteristic features of ICH. Subsequent autologous epidural patch therapy led to resolution of the headache and imaging findings; however, her ptosis and motility disorder persisted. Despite existing therapeutic measures for ICH, irreversible cranial nerve damage may ensue due to significant cerebral decent or ischemic injury.
Khyati P Shah, Bipasha Mukherjee
Purpose: The purpose of the study was to evaluate the efficacy of silicone rods as frontalis sling for correction of ptosis associated with poor Bell’s phenomenon in specific situations. Materials And Methods: A retrospective interventional case series of 25 eyes of 19 patients who underwent frontalis suspension surgery with silicone rods for ptosis correction from May 2006 to April 2011, was performed. Inclusion criteria included severe ptosis with poor Bell’s phenomenon. Patient evaluation included clinical history and other relevant parameters of ptosis measurement. Final outcome measurements included postoperative lid height, lagophthalmos, complications, need for reoperation, and patient satisfaction. Results: Mean age at presentation was 25.72 ± 2.2 years. The sex ratio of male: female was 1.11. The causes of ptosis included chronic progressive external ophthalmoplegia (CPEO) in 11 eyes (44%), oculopharyngeal dystrophy in 2 (8%), third cranial nerve palsy in 7 (28%), traumatic in three eyes (12%), and iatrogenic postoperative ptosis (after orbital tumor excision) in two eyes (8%). The postoperative palpebral fissure height and margin reflex distance improved significantly (P = 0.0001). Extrusion of the sling and granuloma formation occurred in two eyes each, and these patients had to undergo sling removal. One patient developed mild exposure keratopathy and was managed conservatively. Conclusion: Silicone is an effective material for use in frontalis suspension in the management of severe ptosis with poor Bell’s phenomenon. The elastic nature of silicone rod makes it an ideal suspensory material for patients with CPEO or third nerve palsy.