Congenital fibrosis of extraocular muscles
Også kjent som: Miyoshi myopai
Engelsk navn: Congenital fibrosis of extraocular muscles
Engelske synonym: FEOM
Definisjon
A rare syndromic disorder with strabismus characterized by congenital non-progressive ophthalmoplegia affecting the oculomotor and/or trochlear nucleus/nerve and their innervated muscles. Patients present with abnormal resting position of the eyes (in most cases infraducted and exotropic), limitation of vertical and horizontal gaze, impaired binocular vision, amblyopia, unilateral or bilateral blepharoptosis, and compensatory abnormal head posture. Extraocular manifestations include intellectual disability, peripheral neuropathy, and skeletal abnormalities, among others.
Fra Orphanet
ORPHA: 45358
Klassifiseringsnivå: Disorder
ICD-10: H49.8
