congenital fibrosis of extraocular muscles

Introduction

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
  • oculomotor nucleus
  • trochlear nucleus
  • abducens nucleus

Genetics

• associated with defects in Kif21A (type 1)
• associated with defects in PHOX2A (type 2)

Clinical manifestations

• anchoring of the eyes in downward gaze, ptosis, & backward tilt of the head

More general terms

• genetic disease of muscle (inherited myopathy)

Additional terms

• extraocular muscle (EOM)

Database

• OMIM: https://mirror.omim.org/entry/135700
• OMIM: https://mirror.omim.org/entry/602078