This is an old revision of the document!
Ehlers-Danlos Syndrome (EDS)
Main Features
- Group of heritable connective tissue disorders
- tissue fragility
- hypermobility
- skin and joint hyperextensibility
Eye Findings
- 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
Other Findings
- Vascular type
- cervical artery dissection
- multiple bone fractures
- prolonged recovery from concussion
- inguinal hernia
- poor exercise tolerance
- pain intolerance
Etiology
- Gene defect involving collagen
- usually collagen types I, III, and V
- Disruption of the collagen fibrils
- Classical EDS
- mutations in COL5A1 and COL5A2
- Vascular EDS
- mutations in COL3A1
Ddx of joint hypermobility
- Cutis Laxa
- Pseudoxanthoma elasticum
- Loeys-Deitz syndrome