Ectropion and epiphora in McArdle's syndrome

Area of Science:

• Ophthalmology
• Genetics
• Metabolic Disorders

Background:

• Ectropion, an outward turning of the eyelid, is typically age-related.
• McArdle disease, a glycogen storage disease, results from myophosphorylase deficiency.
• Ocular manifestations of McArdle disease are not well-documented.

Observation:

• A 19-year-old male college student presented with bilateral epiphora (excessive tearing).
• The patient was diagnosed with McArdle disease (glycogen storage disease type V).
• Bilateral ectropion was identified as the cause of his epiphora.

Findings:

• This is the first reported case of ectropion and subsequent epiphora associated with McArdle disease.
• The findings suggest a potential, previously unrecognized link between myophosphorylase deficiency and eyelid abnormalities.
• The specific mechanism causing ectropion in this context requires further investigation.

Implications:

• This case expands the known clinical spectrum of McArdle disease.
• It highlights the importance of considering rare metabolic disorders in young patients with unusual ocular symptoms.
• Further research may elucidate the pathophysiology connecting glycogen metabolism and eyelid structure.