Myopathies affecting the extraocular muscles in children
- Andrew G Lee, MD
Andrew G Lee, MD
- Professor of Ophthalmology, Neurology, and Neurological Surgery
- Weill Cornell College of Medicine
- Paul W Brazis, MD
Paul W Brazis, MD
- Section Editor — Neuroophthalmology
- Professor of Neurology, Department of Ophthalmology
- Mayo Clinic College of Medicine
- Section Editors
- Evelyn A Paysse, MD
Evelyn A Paysse, MD
- Section Editor — Pediatric Ophthalmology
- Professor of Ophthalmology and Pediatrics
- Baylor College of Medicine
- Marc C Patterson, MD, FRACP
Marc C Patterson, MD, FRACP
- Section Editor — Pediatric Neurology
- Professor of Neurology, Pediatrics, and Medical Genetics
- Chair, Division of Child and Adolescent Neurology
- Mayo Clinic College of Medicine
Most generalized myopathies do not affect the extraocular muscles. However, there are some notable exceptions. Chronic progressive external ophthalmoplegia (CPEO) is a nonspecific term that is used to describe a range of myopathies that affect the extraocular muscles. These progressive ophthalmoplegias include:
●Oculopharyngeal muscular dystrophy
●Myotonic dystrophyTo continue reading this article, you must log in with your personal, hospital, or group practice subscription. For more information on subscription options, click below on the option that best describes you:
- Carta A, D'Adda T, Carrara F, Zeviani M. Ultrastructural analysis of extraocular muscle in chronic progressive external ophthalmoplegia. Arch Ophthalmol 2000; 118:1441.
- Barragán-Campos HM, Barrera-Ramírez CF, Iturralde Torres P, et al. Kearns-Sayre syndromes an absolute indication for prophylactic implantation of definitive pacemaker? Arch Inst Cardiol Mex 1999; 69:559.
- Fromenty B, Carrozzo R, Shanske S, Schon EA. High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart. Am J Med Genet 1997; 71:443.
- Katsanos KH, Elisaf M, Bairaktari E, Tsianos EV. Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome. Am J Nephrol 2001; 21:150.
- Harvey JN, Barnett D. Endocrine dysfunction in Kearns-Sayre syndrome. Clin Endocrinol (Oxf) 1992; 37:97.
- Hill ME, Creed GA, McMullan TF, et al. Oculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population. Brain 2001; 124:522.
- Lacomis D, Kupsky WJ, Kuban KK, Specht LA. Childhood onset oculopharyngeal muscular dystrophy. Pediatr Neurol 1991; 7:382.
- Dubowitz V. Muscle biopsy: A practical approach, Bailliere Tindall, London 1985. p.380.
- Kim JH, Hwang JM, Hwang YS, et al. Childhood ocular myasthenia gravis. Ophthalmology 2003; 110:1458.
- Rose LV, Rose NT, Elder JE, et al. Ophthalmologic presentation of oxidative phosphorylation diseases of childhood. Pediatr Neurol 2008; 38:395.
- Campos Y, Gámez J, García A, et al. A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathy. Neuromuscul Disord 2001; 11:477.
- Ishikawa Y, Goto Y, Ishikawa Y, Minami R. Progression in a case of Kearns-Sayre syndrome. J Child Neurol 2000; 15:750.
- Marin-Garcia J, Goldenthal MJ, Sarnat HB. Kearns-Sayre syndrome with a novel mitochondrial DNA deletion. J Child Neurol 2000; 15:555.
- Saiwaki T, Shiga K, Fukuyama R, et al. A unique junctional palindromic sequence in mitochondrial DNA from a patient with progressive external ophthalmoplegia. Mol Pathol 2000; 53:333.
- Seneca S, Verhelst H, De Meirleir L, et al. A new mitochondrial point mutation in the transfer RNA(Leu) gene in a patient with a clinical phenotype resembling Kearns-Sayre syndrome. Arch Neurol 2001; 58:1113.
- Spagnolo M, Tomelleri G, Vattemi G, et al. A new mutation in the mitochondrial tRNA(Ala) gene in a patient with ophthalmoplegia and dysphagia. Neuromuscul Disord 2001; 11:481.
- Van Goethem G, Dermaut B, Löfgren A, et al. Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions. Nat Genet 2001; 28:211.
- Wong LJ, Naviaux RK, Brunetti-Pierri N, et al. Molecular and clinical genetics of mitochondrial diseases due to POLG mutations. Hum Mutat 2008; 29:E150.
- Marie SK, Carvalho AA, Fonseca LF, et al. Kearns-Sayre syndrome "plus". Classical clinical findings and dystonia. Arq Neuropsiquiatr 1999; 57:1017.
- Carlow TJ, Depper MH, Orrison WW Jr. MR of extraocular muscles in chronic progressive external ophthalmoplegia. AJNR Am J Neuroradiol 1998; 19:95.
- Choi C, Sunwoo IN, Kim HS, Kim DI. Transient improvement of pyruvate metabolism after coenzyme Q therapy in Kearns-Sayre syndrome: MRS study. Yonsei Med J 2000; 41:676.
- Daut PM, Steinemann TL, Westfall CT. Chronic exposure keratopathy complicating surgical correction of ptosis in patients with chronic progressive external ophthalmoplegia. Am J Ophthalmol 2000; 130:519.
- Wong VA, Beckingsale PS, Oley CA, Sullivan TJ. Management of myogenic ptosis. Ophthalmology 2002; 109:1023.
- Speeg-Schatz C, de Saint-Martin A, Christmann D. Congenital mitochondrial cytopathy and chronic progressive external ophthalmoplegia. Binocul Vis Strabismus Q 2001; 16:187.
- Andrews RM, Griffiths PG, Chinnery PF, Turnbull DM. Evaluation of bupivacaine-induced muscle regeneration in the treatment of ptosis in patients with chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome. Eye (Lond) 1999; 13 ( Pt 6):769.