Ocular Manifestations of Two Filipinos with Congenital Fibrosis of the Extraocular Muscles

Abstract

Congenital fibrosis of the extraocular muscles (CFEOM) is a rare, congenital, non-progressive disorder presenting with partial or total ophthalmoplegia, with variable degrees of ptosis in both eyes. We present the clinical manifestations of congenital fibrosis of the extraocular muscles in two patients.

Both patients presented with bilateral ptosis and variable ophthalmoplegia with a chin-up posture. The ocular
deviations have been noted since birth. No patient demonstrated a Marcus-Gunn jaw-winking phenomenon.
Both patients had a mild refractive error with with-the-rule astigmatism. Deviation for both patients revealed
exotropia with varying amounts of hypotropia and limitations in the movement of extraocular muscles. Both patients presented no abnormalities in the pupils. Neuroimaging revealed atrophy of the extraocular muscles.

Diagnosis of CFEOM in a resource-poor setting is also challenging due to inaccessible gene testing. Manifestations of CFEOM vary across affected patients. CFEOM proposes challenges to the ophthalmologist with regards to management.