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Abnormal extraocular muscle physiology

MedGen UID:
1639027
•Concept ID:
C4703401
•
Pathologic Function
HPO: HP:0025590

Definition

A functional anomaly of the muscles of the eye. [from HPO]

Professional guidelines

PubMed

Phenotype, genotype, and management of congenital fibrosis of extraocular muscles type 1 in 16 Chinese families.
Chen M, Huang R, Zhang Y, Zhu DJ, Shu Q, Xun P, Zhang J, Gu P, Li L
Graefes Arch Clin Exp Ophthalmol 2023 Mar;261(3):879-889. Epub 2022 Sep 23 doi: 10.1007/s00417-022-05830-3. PMID: 36138147Free PMC Article
The diagnosis and treatment of infantile nystagmus syndrome (INS).
Khanna S, Dell'Osso LF
ScientificWorldJournal 2006 Oct 30;6:1385-97. doi: 10.1100/tsw.2006.248. PMID: 17086344Free PMC Article
Extraocular mitochondrial myopathies and their differential diagnoses.
Schoser BG, Pongratz D
Strabismus 2006 Jun;14(2):107-13. doi: 10.1080/09273970600701218. PMID: 16760117

Recent clinical studies

Etiology

Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Congenital cranial dysinnervation disorders.
Singh A, Pandey PK, Agrawal A, Mittal SK, Rana KM, Bahuguna C
Int Ophthalmol 2017 Dec;37(6):1369-1381. Epub 2016 Nov 11 doi: 10.1007/s10792-016-0388-z. PMID: 27837354
Rectus Extraocular Muscle Size and Pulley Location in Concomitant and Pattern Exotropia.
Hao R, Suh SY, Le A, Demer JL
Ophthalmology 2016 Sep;123(9):2004-12. Epub 2016 Jul 19 doi: 10.1016/j.ophtha.2016.05.053. PMID: 27448831Free PMC Article
The Role of Extraocular Muscle Pulleys in Incomitant Non-Paralytic Strabismus.
Clark RA
Middle East Afr J Ophthalmol 2015 Jul-Sep;22(3):279-85. doi: 10.4103/0974-9233.159698. PMID: 26180464Free PMC Article

Diagnosis

Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Inherited eye-related disorders due to mitochondrial dysfunction.
Yu-Wai-Man P, Newman NJ
Hum Mol Genet 2017 Aug 1;26(R1):R12-R20. doi: 10.1093/hmg/ddx182. PMID: 28481993Free PMC Article
Pearls: myasthenia.
Benatar M
Semin Neurol 2010 Feb;30(1):35-7. Epub 2010 Feb 1 doi: 10.1055/s-0029-1244999. PMID: 20127579
Infantile exotropia.
Biglan AW, Davis JS, Cheng KP, Pettapiece MC
J Pediatr Ophthalmol Strabismus 1996 Mar-Apr;33(2):79-84. doi: 10.3928/0191-3913-19960301-04. PMID: 8965243
Ocular myopathies.
Tomé FM, Fardeau M
Pathol Res Pract 1985 Jul;180(1):19-27. doi: 10.1016/S0344-0338(85)80070-4. PMID: 4034429

Therapy

Newly developed abnormal head position and secondary esotropia after strabismus surgery for children with intermittent exotropia.
Shen T, Kang Y, Lin X, Wu H, Yan J
Int Ophthalmol 2022 Oct;42(10):2965-2972. Epub 2022 Jan 27 doi: 10.1007/s10792-021-02173-6. PMID: 35083599
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Concentric or monopolar electrode for jitter determination in orbicularis oculi.
Oliveira Santos M, Swash M, de Carvalho M
Clin Neurophysiol 2018 Dec;129(12):2552-2556. Epub 2018 Oct 26 doi: 10.1016/j.clinph.2018.09.024. PMID: 30388614
PD-1 Inhibitor-associated Myopathies: Emerging Immune-mediated Myopathies.
Liewluck T, Kao JC, Mauermann ML
J Immunother 2018 May;41(4):208-211. doi: 10.1097/CJI.0000000000000196. PMID: 29200081
Ocular myasthenia gravis. A critical review of clinical and pathophysiological aspects.
Sommer N, Melms A, Weller M, Dichgans J
Doc Ophthalmol 1993;84(4):309-33. doi: 10.1007/BF01215447. PMID: 8156854

Prognosis

Ophthalmoplegia in Mitochondrial Disease.
Lee SJ, Na JH, Han J, Lee YM
Yonsei Med J 2018 Dec;59(10):1190-1196. doi: 10.3349/ymj.2018.59.10.1190. PMID: 30450853Free PMC Article
Repair of the Malpositioned Lower Lid.
Chan D, Sokoya M, Ducic Y
Facial Plast Surg 2017 Dec;33(6):598-605. Epub 2017 Dec 1 doi: 10.1055/s-0037-1608711. PMID: 29195240
Congenital cranial dysinnervation disorders.
Singh A, Pandey PK, Agrawal A, Mittal SK, Rana KM, Bahuguna C
Int Ophthalmol 2017 Dec;37(6):1369-1381. Epub 2016 Nov 11 doi: 10.1007/s10792-016-0388-z. PMID: 27837354
Strabismus in craniosynostosis.
Rosenberg JB, Tepper OM, Medow NB
J Pediatr Ophthalmol Strabismus 2013 May-Jun;50(3):140-8. Epub 2012 Nov 20 doi: 10.3928/01913913-20121113-02. PMID: 23163259
The anatomy and physiology of the ocular motor system.
Horn AK, Leigh RJ
Handb Clin Neurol 2011;102:21-69. doi: 10.1016/B978-0-444-52903-9.00008-X. PMID: 21601062

Clinical prediction guides

The Role of Extraocular Muscle Pulleys in Incomitant Non-Paralytic Strabismus.
Clark RA
Middle East Afr J Ophthalmol 2015 Jul-Sep;22(3):279-85. doi: 10.4103/0974-9233.159698. PMID: 26180464Free PMC Article
Congenital cranial dysinnervation disorders: a concept in evolution.
Bosley TM, Abu-Amero KK, Oystreck DT
Curr Opin Ophthalmol 2013 Sep;24(5):398-406. doi: 10.1097/ICU.0b013e3283645ad6. PMID: 23872818
The anatomy and physiology of the ocular motor system.
Horn AK, Leigh RJ
Handb Clin Neurol 2011;102:21-69. doi: 10.1016/B978-0-444-52903-9.00008-X. PMID: 21601062
Oculonasal synkinesis.
Guyuron B, Bokhari F, Galloway DV, Thomas T
Plast Reconstr Surg 1994 Aug;94(2):251-3. doi: 10.1097/00006534-199408000-00005. PMID: 8041815
Ocular myopathies.
Tomé FM, Fardeau M
Pathol Res Pract 1985 Jul;180(1):19-27. doi: 10.1016/S0344-0338(85)80070-4. PMID: 4034429

Recent systematic reviews

Oculomotor functions in focal dystonias: A systematic review.
Hirsig A, Barbey C, Schüpbach MWM, Bargiotas P
Acta Neurol Scand 2020 May;141(5):359-367. Epub 2020 Feb 12 doi: 10.1111/ane.13224. PMID: 31990980
Congenital myasthenic syndromes.
Finsterer J
Orphanet J Rare Dis 2019 Feb 26;14(1):57. doi: 10.1186/s13023-019-1025-5. PMID: 30808424Free PMC Article
Clinical and histologic ocular findings in pompe disease.
Yanovitch TL, Banugaria SG, Proia AD, Kishnani PS
J Pediatr Ophthalmol Strabismus 2010 Jan-Feb;47(1):34-40. Epub 2010 Jan 21 doi: 10.3928/01913913-20100106-08. PMID: 20128552

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