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Absent extraocular muscles

MedGen UID:
Concept ID:
Congenital Abnormality
Synonyms: Absent ocular muscles; Missing eye muscles
HPO: HP:0007886


Congenital absence of the extraocular muscles. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAbsent extraocular muscles

Conditions with this feature

Axenfeld-Rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
MedGen UID:
Concept ID:
Disease or Syndrome

Professional guidelines


Sommer N, Sigg B, Melms A, Weller M, Schepelmann K, Herzau V, Dichgans J
J Neurol Neurosurg Psychiatry 1997 Feb;62(2):156-62. doi: 10.1136/jnnp.62.2.156. PMID: 9048716Free PMC Article

Recent clinical studies


Drummond GT, Keech RV
Can J Ophthalmol 1989 Oct;24(6):275-9. PMID: 2611712


Greenberg MF, Pollard ZF
J AAPOS 1998 Oct;2(5):307-9. doi: 10.1016/s1091-8531(98)90090-8. PMID: 10646755

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