Keratoconus and the Ehlers-Danlos syndrome: a new aspect of keratoconus.
Hypermobility of the joints is a frequent finding in patients who have keratoconus. Twenty-two of 44 patients (50%) presenting in 1973 were found to have hypermobility of joints (mainly Ehlers-Danlos syndrome II or mitis type). The significance of this finding is discussed in relation to biochemical defects recently found in corneas with keratoconus. The hypothesis is presented that keratoconus is often a part of a generalized heritable disorder of connective tissue due to a biochemical defect causing a weakness in its structure.
D000293:Adolescent; D000328:Adult; D004535:Ehlers-Danlos Syndrome / Q000150:complications* / Q000235:genetics; D005260:Female; D005384:Finger Joint / Q000503:physiopathology; D006801:Humans; D006967:Hypersensitivity / Q000150:complications; D007640:Keratoconus / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D013933:Thumb / Q000503:physiopathology