Fibrosis of Extraocular Muscles, CFEOM3C

Clinical Characteristics
Ocular Features: 

Bilateral ptosis is present at birth and the superior rectus muscle movements are limited.  Two of the 4 affected members of the 3 generation family reported also had bilateral excyclotropia.  The extraocular muscle movement restrictions were not progressive.  On computed tomography the extraocular muscles appeared normal.

Systemic Features: 

One affected member of the pedigree had an unbalanced translocation with asymmetric facial dysmorphism with exophthalmia and ptosis. She also had physical and mental growth delay, kyphosis, pectus excavatum, limited speech, ophthalmoplegia, regression of motor skills and peripheral hypertonia with brisk reflexes.  Other members with ophthalmoplegia had no systemic findings. 

Genetics

In the reported family a balanced translocation, t(2;13)(q37.3;q12.11), was present in 3 affected. The 4th patient with syndromal ophthalmoplegia had an unbalanced translocation.  The transmission pattern of t(2;13) is consistent with autosomal dominant inheritance.

Other nonsyndromal forms of congenital fibrosis of extraocular muscles include: CFEOM1 (135700), CFEOM2 (602078), CFEOM5 (616219), and CFEOM with synergistic divergence (609612).  See also Tukel CFEOM syndrome (609428).

Treatment
Treatment Options: 

Ptosis surgery can be helpful.

References
Article Title: 

Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3)locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depetris D, Mattei MG, Philip N, Levy N. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3)locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. J Med Genet. 2005 Mar;42(3):253-9.

PubMed ID: 
15744040

References

Aubourg P, Krahn M, Bernard R, Nguyen K, Forzano O, Boccaccio I, Delague V, De Sandre-Giovannoli A, Pouget J, Depetris D, Mattei MG, Philip N, Levy N. Assignment of a new congenital fibrosis of extraocular muscles type 3 (CFEOM3)locus, FEOM4, based on a balanced translocation t(2;13) (q37.3;q12.11) and identification of candidate genes. J Med Genet. 2005 Mar;42(3):253-9.

PubMedID: 15744040