Oculopharyngeal Muscular Dystrophy: A Case Report From Puerto Rico

TL;DR

A 57-year-old man from Puerto Rico was diagnosed with oculopharyngeal muscular dystrophy based on his symptoms and family history.

Contribution

This case report adds to the limited literature on OPMD in Puerto Rico and highlights its clinical features.

Findings

The patient exhibited ptosis, dysphagia, and bilateral pseudophakia consistent with OPMD.

A family history of similar symptoms was identified in the patient's mother.

The diagnosis was confirmed through clinical evaluation and family history.

Abstract

Oculopharyngeal muscular dystrophy (OPMD) is a late-onset inherited skeletal myopathy. The diagnosis is based on a clinical presentation of blepharoptosis, dysphagia, and a positive family history of the disease in patients past 40 years of age. A 57-year-old male patient presented with ptosis without lid crease, adult-onset dysphagia, and bilateral pseudophakia. The patient underwent ptosis repair of upper eyelids via frontalis slings with silicone rods. His mother was subsequently found to have ptosis, dry eyes, and anorexia due to dysphagia, thus suggesting a probable family history. Based on the comprehensive ophthalmic evaluation, and based on his ptosis, dysphagia, and family history, the patient was diagnosed with OPMD.

Figures