Ehlers-Danlos syndrome is one of many inherited abnormalities of connective tissue, specifically
collagen. A 16-year-old caucasian female with Type VI
Ehlers-Danlos syndrome had five unusual corneal findings, four of which have not been reported in association with
Ehlers-Danlos syndrome: micro-cornea (previously reported), cornea plana,
keratoconus posticus, stromal haze at the level of Bowman's layer and a peripheral ring opacity suggestive of anterior embryotoxon. Type VI
Ehlers-Danlos syndrome is associated with deficient activity of
lysyl hydroxylase which ultimately is responsible for cross-linking
collagen chains, the source of its tensile strength. Genetic regulation of
procollagen formation is believed to be mediated by
mRNA. Aggregation and maturation in the extracellular matrix is probably influenced and mediated by its evolving biochemical environment, particularly by complex
carbohydrate moieties. An understanding of
collagen maturation, and the pathophysiologic and biophysical consequences of abnormalities at this level of biochemical organization, permits more specific understanding of ocular dysmorphology and
collagen diseases.