RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE.

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.