Congenital fibrosis of the extraocular muscles (CFEOM) are a group of at least eight rare genetic eye movement disorders classified clinically and genetically (CFEOM1A, CFEOM1B, CFEOM2, CFEOM3A, CFEOM3B, CFEOM3C, Tukel syndrome, and CFEOM3 with polymicrogyria). They present at birth and are characterized by congenital non-progressive opthalmoplegia, ptosis and eyes that are fixed in an abnormal position. Fibrosis of Extraocular Muscles, Congenital, 3A (CFEOM3A) is a non-progressive, autosomal dominant disorder marked by restrictive ophthalmoplegia affecting extraocular muscles that are innervated by the oculomotor and/or trochlear nerves. Individuals with CFEOM3A may be bilaterally or unilaterally affected, and their oculo-motility defects range from complete ophthalmoplegia to mild asymptomatic restrictions of ocular movements. They may also have social disability, Kallmann syndrome, intellectual disability, vocal cord paralysis, and facial weakness. Additional features may include a progressive sensorimotor axonal polyneuropathy.
Oystreck et al. (2011) reported five Saudi patients with genetically and pathology different ocular motility abnormalities involving straight eyes to describe the phenotypic similarity. A 7-year-old girl, five of her siblings, and their father were diagnosed with congenital fibrosis of the extraocular muscles type 3. She presented with congenital ptosis and restricted eye movements. At the age of 2 years she had bilateral ptosis repair.