Abstract
Myogenic ptosis may present in children or adults. There is commonly reduced levator function and associated weakness of the extraocular, orbicularis oculi, and facial muscles. In some cases, one may find bulbar, limb, and respiratory muscle weakness, as well as a variety of other associated findings, such as frontal balding and polychromatophilic cataracts in myotonic dystrophy. Myogenic ptosis can frequently be diagnosed via muscle biopsy or genetic testing. Ptosis surgery may be quite effective, although frontalis slings are often ultimately necessary due to the progressive nature of myopathic ptosis in many or most cases.
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References
Hornblass A, Adachi M, Wolintz A, Smith B. Clinical and ultrastructural correlation in congenital and acquired ptosis. Ophthalmic Surg. 1976;7(1):69–76.
Frueh BR. The mechanistic classification of ptosis. Ophthalmology. 1980;87(10):1019–21.
Heidary G, Engle EC, Hunter DG. Congenital fibrosis of the extraocular muscles. Semin Ophthalmol. 2008;23(1):3–8.
Allen CE, Rubin PA. Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): clinical manifestation and treatment. Int Ophthalmol Clin. 2008;48(2):15–23.
De Baere E. Blepharophimosis, ptosis and epicanthus inversus. Gene Reviews. Initial posting 8 July 2004. Last revised 15 Feb 2006. Online at www.ncbi.nlm.nih.gov/bookshelf
Kearns TP, Sayre GP. Retinitis pigmentosa, external ophthalmoplegia, and complete heart block: unusual syndrome with histologic study in one of two cases. AMA Arch Ophthalmol. 1958;60(2):280–9.
Berenberg RA, Pellock JM, DiMauro S, Schotland DL, Bonilla E, Eastwood A, et al. Lumping or splitting? “Ophthalmoplegia-plus” or Kearns-Sayre syndrome? Ann Neurol. 1977;1(1):37–54.
Eagle Jr RC, Hedges TR, Yanoff M. The atypical pigmentary retinopathy of Kearns-Sayre syndrome. A light and electron microscopic study. Ophthalmology. 1982;89(12):1433–40.
Young TJ, Shah AK, Lee MH, Hayes DL. Kearns-Sayre syndrome: a case report and review of cardiovascular complications. Pacing Clin Electrophysiol. 2005;28(5):454–7.
Lauwers MH, Van Lersberghe C, Camu F. Inhalation anaesthesia and the Kearns-Sayre syndrome. Anaesthesia. 1994;49(10):876–8.
Egger J, Wilson J. Mitochondrial inheritance in a mitochondrially mediated disease. N Engl J Med. 1983;309(3):142–6.
Leveille AS, Newell FW. Autosomal dominant Kearns-Sayre syndrome. Ophthalmology. 1980;87(2):99–108.
Ogasahara S, Yorifuji S, Nishikawa Y, Takahashi M, Wada K, Hazama T, et al. Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns-Sayre syndrome. Neurology. 1985;35(3):372–7.
Thornton C. The myotonic dystrophies. Semin Neurol. 1999;19(1):25–33.
Meola G, Moxley 3rd RT. Myotonic dystrophy type 2 and related myotonic disorders. J Neurol. 2004;251(10):1173–82.
Oya Y, Yoshida H, Takeshima M, Toyama J, Shigeto H, Ogawa M, et al. Beneficial effect of eyelid makeup (natural rubber latex) to induce a new fold in the treatment of blepharoptosis in myotonic dystrophy. Rinsho Shinkeigaku. 2000;40(5):483–6.
Codere F, Brais B, Rouleau G, Lafontaine E. Oculopharyngeal muscular dystrophy: what’s new? Orbit. 2001;20(4):259–66.
Blumen SC, Korczyn AD, Lavoie H, Medynski S, Chapman J, Asherov A, et al. Oculopharyngeal MD among Bukhara Jews is due to a founder (GCG)9 mutation in the PABP2 gene. Neurology. 2000;55(9):1267–70.
Tome FM, Chateau D, Helbling-Leclerc A, Fardeau M. Morphological changes in muscular fibers in oculopharyngeal muscular dystrophy. Neuromuscul Disord. 1997;7 Suppl 1:S63–9.
Davies JE, Wang L, Garcia-Oroz L, Cook LJ, Vacher C, O’Donovan DG, et al. Doxycycline attenuates and delays toxicity of the oculopharyngeal muscular dystrophy mutation in transgenic mice. Nat Med. 2005;11(6):672–7.
Davies JE, Sarkar S, Rubinsztein DC. Trehalose reduces aggregate formation and delays pathology in a transgenic mouse model of oculopharyngeal muscular dystrophy. Hum Mol Genet. 2006;15(1):23–31.
Chartier A, Raz V, Sterrenburg E, Verrips CT, van der Maarel SM, Simonelig M. Prevention of oculopharyngeal muscular dystrophy by muscular expression of Llama single-chain intrabodies in vivo. Hum Mol Genet. 2009;18(10):1849–59.
Verheesen P, de Kluijver A, van Koningsbruggen S, de Brij M, de Haard HJ, van Ommen GJ, et al. Prevention of oculopharyngeal muscular dystrophy-associated aggregation of nuclear polyA-binding protein with a single-domain intracellular antibody. Hum Mol Genet. 2006;15(1):105–11.
Molgat YM, Rodrigue D. Correction of blepharoptosis in oculopharyngeal muscular dystrophy: review of 91 cases. Can J Ophthalmol. 1993;28(1):11–4.
De Swart BJ, van der Sluijs BM, Vos AM, Kalf JG, Knuijt S, Cruysberg JR, et al. Ptosis aggravates dysphagia in oculopharyngeal muscular dystrophy. J Neurol Neurosurg Psychiatry. 2006;77(22):266–8.
Coiffier L, Perie S, Laforet P, Eymard B, St Guily JL. Long-term results of cricopharyngeal myotomy in oculopharyngeal muscular dystrophy. Otolaryngol Head Neck Surg. 2006;135(2):218–22.
Burde RM, Savino PJ, Trobe JD. Eyelid disturbances in clinical decisions in neuro-ophthalmology. 3rd ed. St. Louis: Mosby Publishers; 2002.
Benatar M. A systematic review of diagnostic studies in myasthenia gravis. Neuromuscul Disord. 2006;16(7):459–67.
Tormoehlen LM, Pascuzzi RM. Thymoma, myasthenia gravis, and other paraneoplastic syndromes. Hematol Oncol Clin North Am. 2008;22(3):509–26.
Marino M, Barbesino G, Pinchera A, Manetti L, Ricciardi R, Rossi B, et al. Increased frequency of euthyroid ophthalmopathy in patients with Graves’ disease associated with myasthenia gravis. Thyroid. 2000;10(9):799–802.
Antonio-Santos AA, Eggenberger ER. Medical treatment options for ocular myasthenia gravis. Curr Opin Ophthalmol. 2008;19(6):468–78.
Bradley EA, Bartley GB, Chapman KL, Waller RR. Surgical correction of blepharoptosis in patients with myasthenia gravis. Ophthal Plast Reconstr Surg. 2001;17(2):103–10.
Chan JW. Paraneoplastic retinopathies and optic neuropathies. Surv Ophthalmol. 2003;48(1):12–38.
Dinges WL, Witherspoon SR, Itani KM, Garg A, Peterson DM. Blepharoptosis and external ophthalmoplegia associated with long-term antiretroviral therapy. Clin Infect Dis. 2008;47(6):845–52.
Fraunfelder FW, Richards AB. Diplopia, blepharoptosis and ophthalmoplegia and 3-hydroxy-3-methyl-glutaryl-CoA reductase inhibitor use. Ophthalmology. 2008;115(12):2282–5.
Song A, Carter KD, Nerad JA, Boldt C, Folk J. Steroid-induced ptosis: case studies and histopathologic analysis. Eye (Lond). 2008;22(4):491–5.
Wong VA, Beckingsale PS, Oley CA, Sulivan TJ. Management of myogenic ptosis. Ophthalmology. 2002;109(5):1023–31.
Patel SM, Linberg JV, Sivak-Callcott JA, Gunel E. Modified tarsal resection operation for congenital ptosis with fair levator function. Ophthal Plast Reconstr Surg. 2008;24(1):1–6.
Esmaeli B, Chung H, Pashby RC. Long-term results of frontalis suspension using irradiated, banked fascia lata. Ophthal Plast Reconstr Surg. 1998;14(3):159–63.
Salvi SM, Currie ZI. Frontalis suspension sling using palmaris longus tendon in chronic progressive external ophthalmoplegia. Ophthal Plast Reconstr Surg. 2009;25(2):140–1.
Goldey SH, Baylis HI, Goldberg RA, Shorr N. Frontalis muscle flap advancement for correction of blepharoptosis. Ophthal Plast Reconstr Surg. 2000;16(2):83–93.
Carter SR, Meecham WJ, Seiff SR. Silicone frontalis slings for the correction of blepharoptosis: indications and efficacy. Ophthalmology. 1996;103(4):623–30.
Bagheri A, Aletaha M, Saloor H, Yazdani S. A randomized clinical trial of two methods of fascia lata suspension in congenital ptosis. Ophthal Plast Reconstr Surg. 2007;23(3):217–21.
Kersten RC, Bernardini FP, Khouri L, Moin M, Roumeliotis AA, Kulwin DR. Unilateral frontalis sling for the correction of unilateral poor-function ptosis. Ophthal Plast Reconstr Surg. 2005;21(6):412–6.
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Kahn, N.D., Weinberg, D.A. (2011). Myogenic Ptosis. In: Cohen, A., Weinberg, D. (eds) Evaluation and Management of Blepharoptosis. Springer, New York, NY. https://doi.org/10.1007/978-0-387-92855-5_10
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DOI: https://doi.org/10.1007/978-0-387-92855-5_10
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