horizontal strabismus

Fibrosis of Extraocular Muscles, CFEOM5

Clinical Characteristics
Ocular Features: 

This type of congenital fibrosis of extraocular muscles is sometimes called a congenital cranial dysinnervation disorder.  Ptosis is of congenital onset while the nature of the strabismus is variable but bilateral.  One sib with this disorder had Duane retraction syndrome.

Systemic Features: 

No systemic features have been reported.

Genetics

Homozygosity or compound heterozygosity of mutations in the COL25A1 gene is responsible for this autosomal recessive condition. 

Other nonsyndromal forms of congenital fibrosis of extraocular muscles include: CFEOM1 (135700), CFEOM2 (602078), CFEOM3C (609384), and CFEOM with synergistic divergence (609612).  See also Tukel CFEOM syndrome (609428).

Pedigree: 
Autosomal recessive
Treatment
Treatment Options: 

No specific treatment has been reported.  However, in selected patients the ocular deviation can be at least partially corrected with strabismus surgery.  Surgery for ptosis should also be considered.

References
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