Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome.

Publications // Young Lab // Mar 01 1992

PubMed ID: 1565446

Author(s): Hertle RW, Katowitz JA, Young TL, Quinn GE, Farber MG. Congenital unilateral fibrosis, blepharoptosis, and enophthalmos syndrome. Ophthalmology. 1992 Mar;99(3):347-55. PMID 1565446

Journal: Ophthalmology, Volume 99, Issue 3, Mar 1992

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.