congenital fibrosis of the extraocular muscles 1

A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygou

A congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12.

Signs and symptoms

• Superior rectus atrophy
• Restrictive external ophthalmoplegia
• Congenital fibrosis of extraocular muscles
• Levator palpebrae superioris atrophy
• Esotropia
• Bilateral ptosis
• Compensatory chin elevation
• Sensory exotropia
• Exotropia
• Secondary esotropia