Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome

The authors report four cases of the rarest form of the congenital fibrosis syndrome. This disorder is exhibited in infancy as unilateral blepharoptosis, strabismus, limited ductions, globe displacement (enophthalmos and blepharoptosis), and decreased vision, usually due to amblyopia. Forced ductions are positive and surgical exploration confirms anomalous muscle structure. Computed tomography and magnetic resonance imaging studies in these four patients were diagnostically beneficial, showing extraocular muscle and tendinous insertion involvement, and poorly defined intraconal and extraconal masses that had the appearance of scar or inflammatory tissue. All patients had globe displacement. The opposite eye and intracranial contents were normal in all of our patients. Results of histopathologic examination obtained at surgery in three of these patients show replacement of affected structures by fibrous tissue and included the extraocular muscles, orbital fat, Tenon's capsule, and conjunctiva.