Fibrosis of Extraocular Muscles, CFEOM5 Clinical CharacteristicsOcular 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. GeneticsHomozygosity 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 recessiveTreatmentTreatment 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. ReferencesArticle Title: Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am J Hum Genet. 2015 Jan 8;96(1):147-52. PubMed ID: 25500261 Read more about Fibrosis of Extraocular Muscles, CFEOM5
Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder Shinwari JM, Khan A, Awad S, Shinwari Z, Alaiya A, Alanazi M, Tahir A, Poizat C, Al Tassan N. Recessive mutations in COL25A1 are a cause of congenital cranial dysinnervation disorder. Am J Hum Genet. 2015 Jan 8;96(1):147-52. PubMed ID: 25500261
