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Updated: Aug 31, 2025
Quantification of Vascular Parameters in Whole Mount Retinas of Mice with Non-Proliferative and Proliferative Retinopathies
Published on: March 12, 2022
RETINAL VASCULAR DISEASE IN LIMB-GIRDLE MUSCULAR DYSTROPHY
Abdulla R Shaheen1, Nicolas A Yannuzzi1, Thomas Kennedy2
1Bascom Palmer Eye Institute, Miami, FL.
Purpose:
To report bilateral retinal vascular occlusive disease in limb-girdle muscular dystrophy (LGMD).
Methods:
Case report.
Results:
A 34-year-old Asian woman was referred for evaluation and management of central retinal vein occlusion. Ultra-wide-field fluorescein angiography showed resolving initial peripheral retinal vein occlusion in one eye and peripheral venular segmental staining in the fellow asymmetric eye. Genetic testing established the diagnosis of LGMD.
Conclusion:
Similar to other forms of muscular dystrophy, LGMD is caused by genetic abnormalities in sarcolemma proteins, a key structural component that connects the intracellular cytoskeleton of a myofiber to the extracellular matrix. Like other muscular dystrophies, LGMD may be associated with retinal vascular abnormalities noted. In this case, retinal vascular smooth muscle dysfunction was seen in LGMD, analogous to reported vascular abnormalities in other muscular dystrophies such as facioscapulohumeral dystrophy and Duchenne muscular dystrophy.
