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Levator palpebrae superioris atrophy

MedGen UID:
342671
Concept ID:
C1851107
Finding
HPO: HP:0012241

Definition

Atrophy of the levator palpebrae superioris, the extraocular muscle that elevates the superior eyelid. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVLevator palpebrae superioris atrophy

Conditions with this feature

Congenital fibrosis of extraocular muscles type 1
MedGen UID:
376943
Concept ID:
C1851102
Disease or Syndrome
Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008). CFEOM2 (602078), an autosomal recessive disorder caused by mutation in the ARIX gene (PHOX2A; 602753) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position. The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (600638) is caused by mutation in the TUBB3 gene (602661) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (608283) on chromosome 12q12; and CFEOM3C (609384) maps to chromosome 13q. CFEOM4 (609428), also known as Tukel syndrome, maps to chromosome 21q. CFEOM5 (616219) is caused by mutation in the COL25A1 gene (610004) on chromosome 4q25. See also NOMENCLATURE.
Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement
MedGen UID:
412638
Concept ID:
C2748801
Disease or Syndrome
Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. If all affected members of a family have classic CFEOM with bilateral involvement and inability to raise the eyes above midline, the phenotype is classified as CFEOM1 (135700). CFEOM2 (602078) shows autosomal recessive inheritance. CFEOM3 is characterized by autosomal dominant inheritance of a more variable phenotype than classic CFEOM1. Individuals with CFEOM3 may not have bilateral involvement, may be able to raise the eyes above midline, or may not have blepharoptosis (reviews by Yamada et al., 2004 and Heidary et al., 2008). Yamada et al. (2003) concluded that CFEOM3 is a relatively rare form of CFEOM. Genetic Heterogeneity of CFEOM3 The CFEOM3 phenotype is genetically heterogeneous; see also CFEOM3B (135700), caused by mutation in the KIF21A gene on chromosome 12q12, and CFEOM3C (609384), which maps to chromosome 13q.

Professional guidelines

PubMed

Farrelly-Waters M, Smith J, Parmar K
Strabismus 2022 Mar;30(1):42-47. Epub 2022 Feb 11 doi: 10.1080/09273972.2021.2022714. PMID: 35147478
Europa TA, Nel M, Heckmann JM
Neuromuscul Disord 2019 May;29(5):381-387. Epub 2019 Mar 26 doi: 10.1016/j.nmd.2019.03.009. PMID: 31029532
Leyngold IM, Berbos ZJ, McCann JD, Pariseau B, Leyngold AR, Anderson RL
Ophthalmic Plast Reconstr Surg 2014 Mar-Apr;30(2):175-9. doi: 10.1097/IOP.0000000000000040. PMID: 24614548

Recent clinical studies

Etiology

Gao S, Lu B, Zhou R, Gao W
J Craniofac Surg 2023 Oct 1;34(7):2195-2198. Epub 2023 Jun 1 doi: 10.1097/SCS.0000000000009397. PMID: 37259202
Demer JL, Clark RA
Am J Ophthalmol 2022 Oct;242:197-208. Epub 2022 May 23 doi: 10.1016/j.ajo.2022.05.017. PMID: 35618024Free PMC Article
Velonakis G, Papadopoulos VE, Karavasilis E, Filippiadis DK, Zouvelou V
Neuroradiology 2021 Sep;63(9):1531-1538. Epub 2021 Jul 7 doi: 10.1007/s00234-021-02753-4. PMID: 34232334
Dermarkarian CR, Shah V, Allen RC
Can J Ophthalmol 2021 Feb;56(1):37-42. Epub 2020 Aug 7 doi: 10.1016/j.jcjo.2020.07.014. PMID: 32771329
Zhang X, Zhang MF, Zhao DC, Liu XW
Graefes Arch Clin Exp Ophthalmol 2020 May;258(5):1081-1086. Epub 2020 Feb 15 doi: 10.1007/s00417-020-04622-x. PMID: 32060728

Diagnosis

Keene KR, Notting IC, Verschuuren JJGM, Voermans N, de Keizer ROB, Beenakker JM, Tannemaat MR, Kan HE
J Neuromuscul Dis 2023;10(5):869-883. doi: 10.3233/JND-230023. PMID: 37182896Free PMC Article
Demer JL, Clark RA
Am J Ophthalmol 2022 Oct;242:197-208. Epub 2022 May 23 doi: 10.1016/j.ajo.2022.05.017. PMID: 35618024Free PMC Article
Zhang X, Zhang MF, Zhao DC, Liu XW
Graefes Arch Clin Exp Ophthalmol 2020 May;258(5):1081-1086. Epub 2020 Feb 15 doi: 10.1007/s00417-020-04622-x. PMID: 32060728
Vassar RL, Rose J
Handb Clin Neurol 2014;125:237-51. doi: 10.1016/B978-0-444-62619-6.00015-X. PMID: 25307579
Plock J, Contaldo C, von Lüdinghausen M
Clin Anat 2005 Oct;18(7):473-80. doi: 10.1002/ca.20192. PMID: 16092130

Therapy

Garibaldi M, Calabrò F, Merlonghi G, Pugliese S, Ceccanti M, Cristiano L, Tartaglione T, Petrucci A
Neuromuscul Disord 2020 May;30(5):420-423. Epub 2020 Feb 26 doi: 10.1016/j.nmd.2020.02.013. PMID: 32387281
Zhang X, Zhang MF, Zhao DC, Liu XW
Graefes Arch Clin Exp Ophthalmol 2020 May;258(5):1081-1086. Epub 2020 Feb 15 doi: 10.1007/s00417-020-04622-x. PMID: 32060728
Leyngold IM, Berbos ZJ, McCann JD, Pariseau B, Leyngold AR, Anderson RL
Ophthalmic Plast Reconstr Surg 2014 Mar-Apr;30(2):175-9. doi: 10.1097/IOP.0000000000000040. PMID: 24614548
Song A, Carter KD, Nerad JA, Boldt C, Folk J
Eye (Lond) 2008 Apr;22(4):491-5. Epub 2007 Jan 12 doi: 10.1038/sj.eye.6702667. PMID: 17220825
Ruskell GL
Prog Retin Eye Res 1999 May;18(3):269-91. doi: 10.1016/s1350-9462(98)00029-9. PMID: 10192514

Prognosis

Europa TA, Nel M, Heckmann JM
Orphanet J Rare Dis 2020 Dec 11;15(1):346. doi: 10.1186/s13023-020-01629-9. PMID: 33308266Free PMC Article
Zhang X, Zhang MF, Zhao DC, Liu XW
Graefes Arch Clin Exp Ophthalmol 2020 May;258(5):1081-1086. Epub 2020 Feb 15 doi: 10.1007/s00417-020-04622-x. PMID: 32060728
Calis F, Atilla H, Bingol Kiziltunc P, Alay C
Strabismus 2019 Dec;27(4):199-204. Epub 2019 Oct 22 doi: 10.1080/09273972.2019.1677729. PMID: 31637944
Suh SY, Clark RA, Le A, Demer JL
Invest Ophthalmol Vis Sci 2016 Oct 1;57(13):5535-5540. doi: 10.1167/iovs.16-20172. PMID: 27768791Free PMC Article
Suh SY, Le A, Clark RA, Demer JL
Ophthalmology 2016 Jun;123(6):1222-31. Epub 2016 Mar 13 doi: 10.1016/j.ophtha.2016.02.016. PMID: 26983977Free PMC Article

Clinical prediction guides

Gao S, Lu B, Zhou R, Gao W
J Craniofac Surg 2023 Oct 1;34(7):2195-2198. Epub 2023 Jun 1 doi: 10.1097/SCS.0000000000009397. PMID: 37259202
Keene KR, Notting IC, Verschuuren JJGM, Voermans N, de Keizer ROB, Beenakker JM, Tannemaat MR, Kan HE
J Neuromuscul Dis 2023;10(5):869-883. doi: 10.3233/JND-230023. PMID: 37182896Free PMC Article
Zhang X, Zhang MF, Zhao DC, Liu XW
Graefes Arch Clin Exp Ophthalmol 2020 May;258(5):1081-1086. Epub 2020 Feb 15 doi: 10.1007/s00417-020-04622-x. PMID: 32060728
Pitceathly RD, Morrow JM, Sinclair CD, Woodward C, Sweeney MG, Rahman S, Plant GT, Ali N, Bremner F, Davagnanam I, Yousry TA, Hanna MG, Thornton JS
Eur Radiol 2016 Jan;26(1):130-7. Epub 2015 May 21 doi: 10.1007/s00330-015-3801-5. PMID: 25994195Free PMC Article
Moscato EE, Bloomer MM, Garcia-Kennedy R, Seiff SR
Ophthalmic Plast Reconstr Surg 2011 Sep-Oct;27(5):360-3. doi: 10.1097/IOP.0b013e31821c4c6f. PMID: 21743372

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