Ocular Ehlers-Danlos Syndrome With Normal Lysyl Hydroxylase Activity
- 1 September 1976
- journal article
- case report
- Published by American Medical Association (AMA) in Archives of Ophthalmology (1950)
- Vol. 94 (9) , 1489-1491
- https://doi.org/10.1001/archopht.1976.03910040323006
Abstract
• 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.Keywords
This publication has 9 references indexed in Scilit:
- Multiple Forms of the Ehlers-Danlos SyndromeArchives of Surgery, 1974
- Lysyl-Protocollagen Hydroxylase Deficiency in Fibroblasts from Siblings with Hydroxylysine-Deficient CollagenProceedings of the National Academy of Sciences, 1972
- Blue sclerae with keratoglobus and brittle cornea.British Journal of Ophthalmology, 1971
- The wrist sign. A useful physical finding in the Marfan syndromeArchives of internal medicine (1960), 1970
- Serious ophthalmological complications in the Ehlers-Danlos syndrome.British Journal of Ophthalmology, 1970
- TENUITY OF CORNEA WITH EHLERS‐DANLOS SYNDROMEActa Ophthalmologica, 1969
- Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder.British Journal of Ophthalmology, 1969
- A SIMPLE SCREENING TEST FOR THE MARFAN SYNDROMEAmerican Journal of Roentgenology, 1966
- Blue Sclerotics Syndrome Simulating Buphthalmos*American Journal of Ophthalmology, 1959