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Restrictive external ophthalmoplegia

MedGen UID:
400877
Concept ID:
C1865918
Finding
Synonym: Restrictive ophthalmoplegia
 
HPO: HP:0007936

Definition

Fibrosis of the external ocular muscles such that the eyes of affected individuals are partially or completely fixed in a strabismic position. Residual eye movements are significantly limited. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Restrictive external ophthalmoplegia

Conditions with this feature

Tukel syndrome
MedGen UID:
332153
Concept ID:
C1836217
Disease or Syndrome
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, 2
MedGen UID:
356119
Concept ID:
C1865915
Disease or Syndrome
Congenital fibrosis of extraocular muscles-2 (CFEOM2) is an autosomal recessive disorder in which affected individuals are born with bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) (Wang et al., 1998, Nakano et al., 2001). For a general phenotypic description and a discussion of genetic heterogeneity of various forms of CFEOM, see CFEOM1 (135700).

Professional guidelines

PubMed

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
Keene KR, Kan HE, van der Meeren S, Verbist BM, Tannemaat MR, Beenakker JM, Verschuuren JJGM
J Cachexia Sarcopenia Muscle 2022 Dec;13(6):2820-2834. Epub 2022 Sep 29 doi: 10.1002/jcsm.13089. PMID: 36172973Free PMC Article
Verrees M, Arafah BM, Selman WR
Neurosurg Focus 2004 Apr 15;16(4):E6. doi: 10.3171/foc.2004.16.4.7. PMID: 15191335

Recent clinical studies

Diagnosis

Engle EC, Goumnerov BC, McKeown CA, Schatz M, Johns DR, Porter JD, Beggs AH
Ann Neurol 1997 Mar;41(3):314-25. doi: 10.1002/ana.410410306. PMID: 9066352

Therapy

Guirgis MF, Wong AM, Tychsen L
Arch Ophthalmol 2002 Aug;120(8):1094-5. PMID: 12149069

Clinical prediction guides

Doherty EJ, Macy ME, Wang SM, Dykeman CP, Melanson MT, Engle EC
Invest Ophthalmol Vis Sci 1999 Jul;40(8):1687-94. PMID: 10393037

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