Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

Elizabeth C. Engle, Boyan C. Goumnerov, Craig McKeown, Martha Schatz, Donald R. Johns, John D. Porter, Alan H. Beggs

Research output: Contribution to journalArticle

139 Citations (Scopus)

Abstract

Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system.

Original languageEnglish
Pages (from-to)314-325
Number of pages12
JournalAnnals of Neurology
Volume41
Issue number3
DOIs
StatePublished - Mar 22 1997
Externally publishedYes

Fingerprint

Oculomotor Muscles
Oculomotor Nerve
Muscles
Motor Neurons
Pathology
Ophthalmoplegia
Chromosomes, Human, Pair 12
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Eye Movements
Fibrosis
Congenital Fibrosis of the Extraocular Muscles

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Engle, E. C., Goumnerov, B. C., McKeown, C., Schatz, M., Johns, D. R., Porter, J. D., & Beggs, A. H. (1997). Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. Annals of Neurology, 41(3), 314-325. https://doi.org/10.1002/ana.410410306

Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. / Engle, Elizabeth C.; Goumnerov, Boyan C.; McKeown, Craig; Schatz, Martha; Johns, Donald R.; Porter, John D.; Beggs, Alan H.

In: Annals of Neurology, Vol. 41, No. 3, 22.03.1997, p. 314-325.

Research output: Contribution to journalArticle

Engle, EC, Goumnerov, BC, McKeown, C, Schatz, M, Johns, DR, Porter, JD & Beggs, AH 1997, 'Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles', Annals of Neurology, vol. 41, no. 3, pp. 314-325. https://doi.org/10.1002/ana.410410306
Engle, Elizabeth C. ; Goumnerov, Boyan C. ; McKeown, Craig ; Schatz, Martha ; Johns, Donald R. ; Porter, John D. ; Beggs, Alan H. / Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles. In: Annals of Neurology. 1997 ; Vol. 41, No. 3. pp. 314-325.
@article{354ba34d48b0402fa5600a5f72154b3c,
title = "Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles",
abstract = "Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system.",
author = "Engle, {Elizabeth C.} and Goumnerov, {Boyan C.} and Craig McKeown and Martha Schatz and Johns, {Donald R.} and Porter, {John D.} and Beggs, {Alan H.}",
year = "1997",
month = "3",
day = "22",
doi = "10.1002/ana.410410306",
language = "English",
volume = "41",
pages = "314--325",
journal = "Annals of Neurology",
issn = "0364-5134",
publisher = "John Wiley and Sons Inc.",
number = "3",

}

TY - JOUR

T1 - Oculomotor nerve and muscle abnormalities in congenital fibrosis of the extraocular muscles

AU - Engle, Elizabeth C.

AU - Goumnerov, Boyan C.

AU - McKeown, Craig

AU - Schatz, Martha

AU - Johns, Donald R.

AU - Porter, John D.

AU - Beggs, Alan H.

PY - 1997/3/22

Y1 - 1997/3/22

N2 - Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system.

AB - Congenital fibrosis of the extraocular muscles is an autosomal dominant congenital disorder characterized by bilateral ptosis, restrictive external ophthalmoplegia with the eyes partially or completely fixed in an infraducted (downward) and strabismic position, and markedly limited and aberrant residual eye movements. It has been generally thought that these clinical abnormalities result from myopathic fibrosis of the extraocular muscles. We describe the intracranial and orbital pathology of 1 and the muscle pathology of 2 other affected members of a family with chromosome 12-linked congenital fibrosis of the extraocular muscles. There is an absence of the superior division of the oculomotor nerve and its corresponding alpha motor neurons, and abnormalities of the levator palpebrae superioris and rectus superior (the muscles innervated by the superior division of the oculomotor nerve). In addition, increased numbers of internal nuclei and central mitochondrial clumping are found in other extraocular muscles, suggesting that the muscle pathology extends beyond the muscles innervated by the superior division of cranial nerve III. This report presents evidence that congenital fibrosis of the extraocular muscles results from an abnormality in the development of the extraocular muscle lower motor neuron system.

UR - http://www.scopus.com/inward/record.url?scp=0031058836&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031058836&partnerID=8YFLogxK

U2 - 10.1002/ana.410410306

DO - 10.1002/ana.410410306

M3 - Article

VL - 41

SP - 314

EP - 325

JO - Annals of Neurology

JF - Annals of Neurology

SN - 0364-5134

IS - 3

ER -