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Retinal Vascular Disease in Limb-Girdle Muscular Dystrophy.

Abdulla R ShaheenNicolas A YannuzziThomas KennedyLawrence A Yannuzzi
Published in: Retinal cases & brief reports (2022)
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.
Keyphrases
  • muscular dystrophy
  • duchenne muscular dystrophy
  • extracellular matrix
  • smooth muscle
  • optical coherence tomography
  • diabetic retinopathy
  • optic nerve
  • genome wide
  • reactive oxygen species