Related Experiment Video
Updated: Feb 7, 2026

Quantitative Fundus Autofluorescence for the Evaluation of Retinal Diseases
Published on: March 11, 2016
RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE
Joseph B Alsberge1, Judy J Chen1, Ali A Zaidi2
1West Coast Retina Medical Group/California Pacific Medical Center, San Francisco, California; and.
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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