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September 1976

Ocular Ehlers-Danlos Syndrome With Normal Lysyl Hydroxylase Activity

Author Affiliations

From the Department of Ophthalmology (Drs Judisch and Krachmer) and the Genetics Division, Department of Pediatrics (Dr Waziri), University of Iowa College of Medicine, Iowa City.

Arch Ophthalmol. 1976;94(9):1489-1491. doi:10.1001/archopht.1976.03910040323006

• 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.