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Superior rectus atrophy

MedGen UID:
338207
Concept ID:
C1851108
Finding
Synonym: Rectus superior atrophy
 
HPO: HP:0012242

Definition

Atrophy of the superior rectus, the extraocular muscle whose primary function is to elevate the globe. [from HPO]

Term Hierarchy

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.

Recent clinical studies

Etiology

Kang W, Kang Y, Kim A, Kim H, Han KM, Ham BJ
J Affect Disord 2023 Jun 1;330:16-23. Epub 2023 Mar 3 doi: 10.1016/j.jad.2023.02.145. PMID: 36871915
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
Mohamed Abdel-Moneim El-Mofty R, Kassem RR, Abdel-Salam LO
Cutan Ocul Toxicol 2022 Sep;41(3):210-214. Epub 2022 Jun 29 doi: 10.1080/15569527.2022.2066113. PMID: 35607763
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
Clark RA, Demer JL
Am J Ophthalmol 2014 Feb;157(2):479-487.e2. Epub 2013 Sep 29 doi: 10.1016/j.ajo.2013.09.027. PMID: 24315033Free PMC Article

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
Mirmohammadsadeghi A, Keivani S, Sharifkashani S, Masoomian B, Sadeghi M, Akbari MR
J AAPOS 2023 Apr;27(2):86.e1-86.e6. Epub 2023 Mar 10 doi: 10.1016/j.jaapos.2023.02.003. PMID: 36906116
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
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
Clark RA, Demer JL
Am J Ophthalmol 2014 Feb;157(2):479-487.e2. Epub 2013 Sep 29 doi: 10.1016/j.ajo.2013.09.027. PMID: 24315033Free PMC Article

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
Sarma MK, Nagarajan R, Keller MA, Kumar R, Nielsen-Saines K, Michalik DE, Deville J, Church JA, Thomas MA
Neuroimage Clin 2014;4:29-34. Epub 2013 Oct 29 doi: 10.1016/j.nicl.2013.10.012. PMID: 24380059Free PMC Article
Salameh JR, Salloum EJ
JSLS 2004 Oct-Dec;8(4):391-4. PMID: 15554289Free PMC Article
Smit TJ, Koornneef L, Zonneveld FW, Groet E, Otto AJ
Ophthalmology 1990 Oct;97(10):1347-51. doi: 10.1016/s0161-6420(90)32411-9. PMID: 2243686
Vasconez LO, Grotting JC, Calderon W, Mathes SJ
Am J Surg 1984 Jul;148(1):103-10. doi: 10.1016/0002-9610(84)90296-4. PMID: 6742317

Prognosis

Yilmaz S, Aksahin E, Duran S, Bicimoglu A
J Pediatr Orthop 2017 Sep;37(6):392-397. doi: 10.1097/BPO.0000000000000690. PMID: 26569519
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
Stadelmann WK, Bardoel JW, Perez-Abadia G, Majzoub RK, Maldonado C, Tobin GR, Kon M, Barker JH
Microsurgery 2001;21(6):248-55. doi: 10.1002/micr.1048. PMID: 11746556

Clinical prediction guides

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
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
Parthimos TP, Karavasilis E, Rankin KP, Seimenis I, Leftherioti K, Papanicolaou AC, Miller B, Papageorgiou SG, Papatriantafyllou JD
J Neuropsychiatry Clin Neurosci 2019 Summer;31(3):201-209. Epub 2019 Jan 3 doi: 10.1176/appi.neuropsych.17120349. PMID: 30605361
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
Clark RA, Demer JL
Am J Ophthalmol 2014 Feb;157(2):479-487.e2. Epub 2013 Sep 29 doi: 10.1016/j.ajo.2013.09.027. PMID: 24315033Free PMC Article

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