congenital fibrosis of extraocular muscles
Also written as: CFEOM — congenital fibrosis of extraocular muscles
A group of inherited disorders characterized by restriction of eye movements due to fibrosis and maldevelopment of extraocular muscles.
Full Definition
Congenital fibrosis of the extraocular muscles (CFEOM) comprises several autosomal dominant disorders affecting ocular motility. CFEOM1, the most common form, presents with bilateral ptosis, restricted eye movements, and chin-up head posture due to inability to elevate the eyes above the midline. The condition results from developmental abnormalities of cranial nerve nuclei and their axons, leading to secondary muscle fibrosis. Genetic testing can identify mutations in genes including KIF21A, PHOX2A, and TUBB3. Management focuses on ptosis repair and strabismus surgery to improve function and cosmesis, though outcomes are often limited by the degree of restriction.
Usage
Usage note: Specify the subtype (CFEOM1, 2, or 3) when known and note inheritance pattern for genetic counseling.
In Context
- "Genetic testing confirmed CFEOM1 with a KIF21A mutation in this family with multiple affected members." — Genetic counseling report
- "The patient's congenital fibrosis of extraocular muscles limited surgical outcomes despite aggressive intervention." — Surgical outcome documentation