A rare association of congenital fibrosis of extraocular muscles with keratoconus and bilateral sensorineural hearing loss: A co-incidence or some syndrome?

Abstract

Congenital fibrosis of extraocular muscles (CFEOM) is an inherited restrictive ocular motility disorder characterized by unilateral or bilateral horizontal and/or vertical gaze impairment with ptosis. Keratoconus is a bilateral asymmetrical corneal ecstatic disease with multifactorial etiology, including complex interaction of both genetic and environmental factors. We report a case of a 29-year-old female who presented with chief complaints of bilateral diminution of vision and drooping of eyelids since early childhood with a history of seizures for 1 year. Visual acuity at presentation was hand movement close to face with accurate projection of rays in both the eyes. Contrast-enhanced magnetic resonance imaging of the brain and orbit revealed partially empty sella, neurocysticercosis, and bilateral atrophy of extraocular muscles. On detailed examination, she was found to have CFEOM type 1A (CFEOM1A, autosomal dominant inheritance) with bilateral advanced keratoconus, bilateral sensorineural hearing loss, bilateral presenile cataract, and neurocysticercosis. The association of CFEOM1A, keratoconus, and sensorineural hearing loss is not reported in the literature to date. Whether this association is co-incidental or part of some new syndrome needs to be evaluated further.

Keywords

• congenital fibrosis of extraocular muscles
• keratoconus
• ptosis
• sensorineural hearing loss