Literature DB >> 962660

Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity.

G F Judisch, M Waziri, J H Krachmer.   

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.

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Year:  1976        PMID： 962660     DOI： 10.1001/archopht.1976.03910040323006

Source DB:  PubMed          Journal:  Arch Ophthalmol        ISSN： 0003-9950


  14 in total

Review 1.  Keratoglobus.

Authors:  B S Wallang; S Das
Journal:  Eye (Lond)       Date:  2013-06-28       Impact factor: 3.775

2.  Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation.

Authors:  P M Royce; B Steinmann; A Vogel; U Steinhorst; A Kohlschuetter
Journal:  Eur J Pediatr       Date:  1990-04       Impact factor: 3.183

Review 3.  Diseases of the collagen molecule.

Authors:  C I Levene
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1978

Review 4.  The cornea--structure and macromolecules in health and disease. A review.

Authors:  G K Klintworth
Journal:  Am J Pathol       Date:  1977-12       Impact factor: 4.307

5.  Genotyping and prenatal assessment of collagen lysyl hydroxylase deficiency in a family with Ehlers-Danlos syndrome type VI.

Authors:  P P Dembure; J H Priest; S C Snoddy; L J Elsas
Journal:  Am J Hum Genet       Date:  1984-07       Impact factor: 11.025

6.  [Syndrome of blue sclerae and keratoglobus (ocular type of Ehlers-Danlos syndrome (author's transl)].

Authors:  W Behrens-Baumann; H J Gebauer; U Langenbeck
Journal:  Albrecht Von Graefes Arch Klin Exp Ophthalmol       Date:  1977-12-31

Review 7.  Collagen metabolism: a comparison of diseases of collagen and diseases affecting collagen.

Authors:  R R Minor
Journal:  Am J Pathol       Date:  1980-01       Impact factor: 4.307

8.  Deleterious mutations in the Zinc-Finger 469 gene cause brittle cornea syndrome.

Authors:  Almogit Abu; Moshe Frydman; Dina Marek; Eran Pras; Uri Nir; Haike Reznik-Wolf; Elon Pras
Journal:  Am J Hum Genet       Date:  2008-05-01       Impact factor: 11.025

9.  Alu-Alu recombination results in a duplication of seven exons in the lysyl hydroxylase gene in a patient with the type VI variant of Ehlers-Danlos syndrome.

Authors:  B Pousi; T Hautala; J Heikkinen; L Pajunen; K I Kivirikko; R Myllylä
Journal:  Am J Hum Genet       Date:  1994-11       Impact factor: 11.025

10.  Brittle cornea, blue sclera, and red hair syndrome (the brittle cornea syndrome).

Authors:  U Ticho; M Ivry; S Merin
Journal:  Br J Ophthalmol       Date:  1980-03       Impact factor: 4.638
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