Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity.
We report two brothers affected with what has been called either fragilitas oculi or the Ehlers-Danlos syndrome type VI. Previously reported cases of the Ehlers-Danlos syndrome type VI showed a deficiency of lysyl hydroxylase in cultured fibroblasts. Assays of cultured skin fibroblasts from these two boys yielded normal activity of this enzyme, suggesting that there are two variants of this disease.
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003316:Corneal Diseases / Q000201:enzymology / Q000235:genetics*; D065306:Corneal Injuries; D004535:Ehlers-Danlos Syndrome / Q000145:classification / Q000201:enzymology / Q000235:genetics*; D006801:Humans; D008297:Male; D006899:Mixed Function Oxygenases / Q000378:metabolism*; D010375:Pedigree
D006899:Mixed Function Oxygenases