RETINAL DYSTROPHY IN A PATIENT WITH McARDLE DISEASE.
Journal
Retinal cases & brief reports
ISSN: 1937-1578
Titre abrégé: Retin Cases Brief Rep
Pays: United States
ID NLM: 101298744
Informations de publication
Date de publication:
01 May 2021
01 May 2021
Historique:
pubmed:
4
8
2018
medline:
30
10
2021
entrez:
4
8
2018
Statut:
ppublish
Résumé
To report a case of pattern dystrophy in a patient with McArdle disease, a rare autosomal recessive disorder of glycogen metabolism. Case report. 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. To our knowledge, this is the third reported case of pattern dystrophy in a patient with McArdle disease.
Identifiants
pubmed: 30074569
pii: 01271216-202105000-00024
doi: 10.1097/ICB.0000000000000790
doi:
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
299-301Références
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Leonardy NJ, Harbin RL, Sternberg P. Pattern dystrophy of the retinal pigment epithelium in a patient with McArdle's disease. Am J Ophthalmol 1988;106:741–742.
Casalino G, Chan W, McAvoy C. Multimodal imaging of posterior ocular involvement in McArdle's disease. Clin Exp Optom 2017;101:412–415.
Lawrence WT, Hagstrom WJ, Parsons RW. Ectropion and epiphora in McArdle's syndrome. Ann Plast Surg 1984;12:284–286.
Hernandez C, Garcia-Ramirez M, Garcia-Rocha M, et al. Glycogen storage in the human retinal pigment epithelium: a comparative study of diabetic and non-diabetic donors. Acta Diabetol 2014;51:543–552.