Ehlers-Danlos Syndrome, Gene Linkage of Disease

Synonyms

EDS I: classic type, gravis type; EDS II: mild classic type, mitis type; EDS IV: vascular type, arterial type, ecchymotic type, Sack-Barabas type; EDS VI: kyphoscoliotic type, ocular-scoliotic type, Nevo Syndrome, Brittle Cornea Syndrome (variant of Ehlers-Danlos Type VI)

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).

Table 1 A summary of Ehlers-Danlos Syndrome classifications and associated gene linkage