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RETINAL VASCULAR DISEASE IN LIMB-GIRDLE MUSCULAR DYSTROPHY.

Abdulla R Shaheen1, Nicolas A Yannuzzi1, Thomas Kennedy2

  • 1Bascom Palmer Eye Institute, Miami, FL.

Retinal Cases & Brief Reports
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Summary

Limb-girdle muscular dystrophy (LGMD) can cause bilateral retinal vascular occlusive disease. This case highlights potential vascular smooth muscle dysfunction in LGMD patients.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Neurology

Background:

  • Limb-girdle muscular dystrophy (LGMD) is a group of inherited muscle-weakening diseases.
  • LGMD results from genetic defects in sarcolemma proteins, crucial for muscle fiber structure.
  • Retinal vascular abnormalities have been observed in other muscular dystrophies.

Observation:

  • A 34-year-old woman with central retinal vein occlusion was diagnosed with LGMD.
  • Ultra-wide-field fluorescein angiography revealed peripheral retinal vein occlusion and venular segmental staining.
  • The findings were asymmetric between the eyes.

Findings:

  • This case reports bilateral retinal vascular occlusive disease in a patient with LGMD.
  • Evidence suggests retinal vascular smooth muscle dysfunction in LGMD.
  • The observed vascular issues are analogous to those seen in other muscular dystrophies.

Implications:

  • LGMD may be associated with significant retinal vascular complications.
  • Ophthalmologists should consider LGMD in patients presenting with unexplained retinal vascular occlusive disease.
  • Further research is warranted to understand the link between LGMD and retinal vascular health.