Definition
Ehlers-Danlos syndrome (EDS) is a rare, inherited disorder caused by defective collagen synthesis. It is part of a large heterogeneous group of connective tissue disorders characterized by skin and joint hyperextensibility and easy bruisability with poor scar formation. Over 10 distinct clinical subtypes exist based on biochemical, genetic, and clinical variations; those subtypes with ocular manifestations are included in Table 1, below (Lorenz and Moore 2006; Kanski and Bowling 2011; Krachmer et al. 2011; Chaudhuri and Vanathi 2012; Goldman and Schafer 2012).
References
Chaudhuri Z, Vanathi M (2012) Postgraduate Ophthalmology, vol 1. JP Medical Ltd, New York, p 1475
Goldman L, Schafer AI (2012) Goldman’s Cecil medicine, 24th edn. Saunders, Philadelphia, pp 1662–1667
Kanski JJ, Bowling B (2011) Clinical ophthalmology: a systematic approach, 7th edn. Elsevier, pp 251–267
Krachmer JH, Mannis MJ, Holland EJ (2011) Cornea, 3rd edn. Elsevier, pp 691–710
Lorenz B, Moore AT (2006) Pediatric ophthalmology, neuro-ophthalmology, genetics. Springer, pp 198–199
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Siddiqui, A.A., Eghrari, A.O. (2014). Ehlers-Danlos Syndrome, Gene Linkage of Disease. In: Schmidt-Erfurth, U., Kohnen, T. (eds) Encyclopedia of Ophthalmology. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-35951-4_586-1
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DOI: https://doi.org/10.1007/978-3-642-35951-4_586-1
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