Ehlers-Danlos Syndrome (EDS)

• Group of heritable connective tissue disorders
• tissue fragility
• hypermobility
• skin and joint hyperextensibility

• Floppy eyelids
• Ptosis 32%
• Infraorbital creases 30%
• Myopia 25%
• Epicanthal folds 19%
• Strabismus 8%
  • convergence insufficiency
• lenticular changes
  • Ectopia lentis
• Blue sclerae
• conjunctivochalasis
• Dry eye
• Thin corneal pachymetry and steep keratometry
• possibly angoid streaks (debatable)
  • only documented present in first report of this condition

• Vascular type
  • cervical artery dissection
  • multiple bone fractures
  • prolonged recovery from concussion
  • inguinal hernia
  • poor exercise tolerance
  • pain intolerance

• Gene defect involving collagen
  • usually collagen types I, III, and V
  • 13 subtypes proposed by the Ehlers-Danlos Syndrome International Symposium in 2016
  • Disruption of the collagen fibrils
  • Classical EDS
    • mutations in COL5A1 and COL5A2
  • Vascular EDS
    • mutations in COL3A1

• Marfan Syndrome
• Cutis Laxa
• Pseudoxanthoma elasticum
• Loeys-Deitz syndrome

EyeWiki
EL, Doyle JJ. Angioid Streaks Are Not a Common Feature of Ehlers-Danlos Syndrome. JAMA Ophthalmol. 2019;137(3):239.