Conditions / Eye

congenital fibrosis of the extraocular muscles 2

info ยท Eye

A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome

A congenital fibrosis of the extraocular muscles that is characterized by bilateral ptosis and restrictive ophthalmoplegia with the globes fixed in extreme abduction (exotropia) and that has_material_basis_in homozygous mutation in the ARIX gene on chromosome 11q13.

Signs and symptoms

  • Hypotropia
  • Restrictive external ophthalmoplegia
  • Congenital fibrosis of extraocular muscles
  • Hypertropia
  • Amblyopia
  • Visual impairment
  • Bilateral ptosis
  • Exotropia