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congenital fibrosis of extraocular muscles

encompasses several different inherited strabismus syndromes Pathology: - congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor nerve &/or trochlear nerves - may result from aberrant development of cranial nerve nuclei a) oculomotor nucleus b) trochlear nucleus c) abducens nucleus Genetics: - associated with defects in Kif21A (type 1) [1] - associated with defects in PHOX2A (type 2) [2] Clinical manifestations: - anchoring of the eyes in downward gaze, ptosis, & backward tilt of the head

Related

extraocular muscle (EOM)

General

genetic disease of muscle (inherited myopathy)

Database Correlations

OMIM correlations

References

  1. OMIM :accession 135700
  2. OMIM :accession 602078