RETINAL DYSTROPHY IN A PATIENT WITH MCARDLE DISEASE. Issue Volume 15:Issues 3(2021) (May 2021)

• Record Type: Journal Article
• Authors: Alsberge, Joseph B.; Chen, Judy J.; Zaidi, Ali A.; Fu, Arthur D.
• Is Part Of: Retinal cases & brief reports. Volume 15:Issues 3(2021)
• Publication Date: 2021-05
• Subjects: pattern dystrophy -- disorders of glycogen metabolism -- McArdle disease; Retina -- Diseases -- Periodicals; Retina -- Periodicals; Retinal Diseases -- Periodicals; Retina -- Case Reports; Retinal Diseases -- Case Reports; 617.7
• DOI: 10.1097/ICB.0000000000000790
• Languages: English
• ISSNs: 1935-1089

Abstract

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. Abstract : A case of pattern dystrophy in a patient with McArdle disease, a rare inherited disorder of glycogen metabolism, is reported.