May 2007
Volume 48, Issue 13
ARVO Annual Meeting Abstract  |   May 2007
Tooth Developmental Abnormalities in Patients With Congenital Fibrosis of Extraocular Muscle (CFEOM) in a Chinese Family
Author Affiliations & Notes
  • C. Wang
    Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China
  • H. Han
    Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China
  • W. Sun
    Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China
  • J. Cao
    Regeneron Pharmaceuticals, Inc., Tarrytown, New York
  • L. Wu
    Ophthalmology, Columbia University, New York, New York
  • Footnotes
    Commercial Relationships C. Wang, None; H. Han, None; W. Sun, None; J. Cao, None; L. Wu, None.
  • Footnotes
    Support None.
Investigative Ophthalmology & Visual Science May 2007, Vol.48, 4859. doi:
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    • Get Citation

      C. Wang, H. Han, W. Sun, J. Cao, L. Wu; Tooth Developmental Abnormalities in Patients With Congenital Fibrosis of Extraocular Muscle (CFEOM) in a Chinese Family. Invest. Ophthalmol. Vis. Sci. 2007;48(13):4859.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose:: To describe a new clinical phenotype of teeth developmental anomalies accompanied with congenital fibrosis of extraocular muscle (CFEOM) in a consanguineous Chinese family (CFEOM -XT-1).

Methods:: A pedigree of a Chinese family (a total of 57 family members) with CFEOM syndrome was established in Xingtai Eye Hospital (XTEH) and designated as CFEOM -XT-1 family. Eight of 10 affected members with CFEOM and nineteen family members were consent to participate in this study. The affected or unaffected family members underwent ophthalmologic (corrected visual acuity, ocular movement and cranial nerve innervation) assessments in Department of Strabismus and a routine dental examination in Department of Oral and Dental Disorder, Xingtai Eye hospital. When teeth developmental disorders were observed, photographs of teeth were taken.

Results:: In CFEOM -XT-1 family, eight of 10 affected individuals in 3rd, 4th and 5th generation exhibited bilateral ptosis with fixed eyes in an exotropic position, chin-up head posture, traction testing showed positive response. No voluntary ocular elevation was beyond midline in both eyes. All unaffected family members were normal by ophthalmologic assessments. By routine dental examination, all affected individuals were accompanied with tooth developmental disorders (malocclusion and developmental delay) while the unaffected members were without such tooth disorders.

Conclusions:: The affected individuals in the CFEOM -XT-1 family display a typical phenotype of CFEOM1, which is consistent with the autosomal dominant inherited trait. The tooth developmental abnormalities are featured prominently in the affected members of this CFEOM1 family. To best of our knowledge, this is the first description of tooth developmental disorders with CFEOM. Our findings add new insight into the clinical phenotype of CFEOM.

Keywords: extraocular muscles: development • strabismus • genetics 

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