J Korean Ophthalmol Soc.  2020 May;61(5):575-581. 10.3341/jkos.2020.61.5.575.

Two Cases of Oculopharyngeal Muscular Dystrophy in Brothers with Ptosis and Eye Movement Disorder

• Bang S
• Nam S
• Lee JS
• Park SH
• Kang MS
• Kim TG
• Jin KH

• KMID: 2500734
• DOI: http://doi.org/10.3341/jkos.2020.61.5.575

Abstract

Purpose
To report two cases of early onset oculopharyngeal muscular dystrophy, which were suspected to be chronic progressive external ophthalmoplegia.
Case summary
Case 1, a 15-year-old male and Case 2, a 13-year-old male brother, visited the clinic with persistent diplopia 6 years prior. The older brother’s best-corrected visual acuity was 0.6 in both eyes and showed an exodeviation of 25 prism diopters. Bilateral ptosis was observed with ocular muscle movement limitations in all directions, and bilateral macular edema was found on fundus examinations. The younger brother had a best-corrected visual acuity of 1.0 in both eyes and showed exodeviation of 45 prism diopters. Bilateral ptosis and ocular muscle movement limitations were also observed. Both patients were suspected to have chronic progressive external ophthalmoplegia and were referred to a neurologist for a neurological examination and muscle biopsy. The muscle biopsies showed that both patients were diagnosed with oculopharyngeal muscular dystrophy.
Conclusions
It is important, initially, to report a case of early onset oculopharyngeal muscular dystrophy that has eyelid and eye movement symptoms, but no other typical symptoms.

Keyword

Blepharoptosis; Chronic progressive external ophthalmoplegia; Oculopharyngeal muscular dystrophy