RETINAL DYSTROPHY IN A PATIENT WITH MCARDLE DISEASE

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Abstract

Purpose:

To report a case of pattern dystrophy in a patient with McArdle disease, a rare autosomal recessive disorder of glycogen metabolism.

Methods:

Case report.

Results:

A 29-year-old woman with a history of muscle biopsy–confirmed McArdle disease presented with fundus findings consistent with pattern dystrophy. Multimodal imaging, including optical coherence tomography and fundus autofluorescence, was performed.

Conclusion:

To our knowledge, this is the third reported case of pattern dystrophy in a patient with McArdle disease.

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