University of Iowa Health Care

Ophthalmology and Visual Sciences

Congenital Ptosis

Congenital fibrosis of the extraocular muscles (CFEOM)

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare, non-progressive condition that results in restrictive global ophthalmoplegia and congenital ptosis. While CFEOM was classically thought to be a myopathy that resulted in muscle fibrosis, there is recent evidence to suggest that the fibrotic changes are secondary to defective innervations of the muscles during development (Heidary 2008). The eyes are most often fixed in an infraducted position, approximately 20-30 degrees below the horizontal midline. This downward gaze, combined with the ptosis, necessitates a chin-up position in many patients (Heidary 2008) (see Figure 6).

Four phenotypes have been described: CFEOM 1, 2, 3 and Tukel syndrome (CFEOM 3 phenotype with postaxial oligodactyly or oligosyndactyly). CFEOM 1 and 3 are inherited in an autosomal dominant fashion and are most commonly associated with missense mutations in the KIF21A gene. While CFEOM 1 typically involves bilateral ptosis and ophthalmoplegia, CFEOM 3 has a more variable phenotype in which ptosis may be unilateral, ophthalmoplegia may be mild and some family members may be unaffected. Mutations in the PHOX2A gene have been associated with CFEOM 2; these are inherited in an autosomal recessive fashion.

These patients require a stepwise surgical approach to correct strabismus and eyelid position. The vertical and horizontal misalignments are addressed first followed by the ptosis repair, as extraocular muscle surgery can alter eyelid position.

Figure 6: This three-year-old female patient has congenital fibrosis of the extraocular muscles and associated bilateral ptosis. At the time of this photograph, the patient had undergone a right sided Supramid sling. She also had motility deficits consistent with congenital fibrosis of the extraocular muscles. (Click image for higher resolution)
Figure 6. congenital fibrosis of the extraocular muscles and associated bilateral ptosis


last updated: 08-12-2011

Written by
Nandini Gandhi, MD

Reviewed by
Richard C. Allen, MD

Gandhi N, Allen RC.
Congenital Ptosis. July 20, 2010; Available from: cases/114-Congenital-Ptosis.htm

Case Presentation

Clinical Course

Differential Diagnosis and Discussion

Isolated congenital ptosis

Ptosis associated with ocular and systemic abnormalities

Treatment of Ptosis

Summary and References

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