Literature DB >> 7387950

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

U Ticho, M Ivry, S Merin.   

Abstract

A syndrome of red hair, blue sclera, and brittle cornea with recurrent spontaneous perforations is presented in 2 siblings of a Tunisian Jewish family. The genetic transmission of this disorder is autosomal recessive. This is the second description of this syndrome, which should be called the 'brittle cornea syndrome'. This syndrome has so far been reported only in Tunisian Jewish families.

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Year:  1980        PMID: 7387950      PMCID: PMC1039382          DOI: 10.1136/bjo.64.3.175

Source DB:  PubMed          Journal:  Br J Ophthalmol        ISSN: 0007-1161            Impact factor:   4.638


  8 in total

1.  Ehlers-Danlos syndrome in two siblings with deficient lysyl hydroxylase activity in cultured skin fibroblasts but only mild hydroxylysine deficit in skin.

Authors:  B Steinmann; R Gitzelmann; A Vogel; M E Grant; R Harwood; C H Sear
Journal:  Helv Paediatr Acta       Date:  1975-10

2.  BLUE SCLERAS WITH KERATOGLOBUS.

Authors:  W ARKIN
Journal:  Am J Ophthalmol       Date:  1964-10       Impact factor: 5.258

3.  Marfan's syndrome; report on five cases in one family.

Authors:  H H BLACK; L H LANDAY
Journal:  AMA Am J Dis Child       Date:  1955-04

4.  Ocular Ehlers-Danlos syndrome with normal lysyl hydroxylase activity.

Authors:  G F Judisch; M Waziri; J H Krachmer
Journal:  Arch Ophthalmol       Date:  1976-09

5.  Brittle cornea. A familial trait associated with blue sclera.

Authors:  R Stein; M Lazar; A Adam
Journal:  Am J Ophthalmol       Date:  1968-07       Impact factor: 5.258

6.  Serious ophthalmological complications in the Ehlers-Danlos syndrome.

Authors:  P Beighton
Journal:  Br J Ophthalmol       Date:  1970-04       Impact factor: 4.638

7.  Blue sclerae and keratoglobus. Ocular signs of a systemic connective tissue disorder.

Authors:  S W Hyams; H Kar; E Neumann
Journal:  Br J Ophthalmol       Date:  1969-01       Impact factor: 4.638

8.  [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
  8 in total
  7 in total

1.  Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations.

Authors:  Wenlin Zhang; J Ben Margines; Deborah S Jacobs; Yaron S Rabinowitz; Evelyn Maryam Hanser; Tulika Chauhan; Doug Chung; Yelena Bykhovskaya; Ronald N Gaster; Anthony J Aldave
Journal:  Cornea       Date:  2019-08       Impact factor: 2.651

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

3.  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

4.  Prdm5 regulates collagen gene transcription by association with RNA polymerase II in developing bone.

Authors:  Giorgio Giacomo Galli; Kristian Honnens de Lichtenberg; Matteo Carrara; Wolfgang Hans; Manuela Wuelling; Bettina Mentz; Hinke Arnolda Multhaupt; Cathrine Kolster Fog; Klaus Thorleif Jensen; Juri Rappsilber; Andrea Vortkamp; Les Coulton; Helmut Fuchs; Valérie Gailus-Durner; Martin Hrabě de Angelis; Raffaele Adolfo Calogero; John Robert Couchman; Anders Henrik Lund
Journal:  PLoS Genet       Date:  2012-05-10       Impact factor: 5.917

5.  ZNF469 frequently mutated in the brittle cornea syndrome (BCS) is a single exon gene possibly regulating the expression of several extracellular matrix components.

Authors:  Marianne Rohrbach; Helen L Spencer; Louise F Porter; Emma M M Burkitt-Wright; Céline Bürer; Andreas Janecke; Madhura Bakshi; David Sillence; Hailah Al-Hussain; Matthias Baumgartner; Beat Steinmann; Graeme C M Black; Forbes D C Manson; Cecilia Giunta
Journal:  Mol Genet Metab       Date:  2013-04-26       Impact factor: 4.797

Review 6.  Brittle cornea syndrome: a case report and review of the literature.

Authors:  Qi Wan; Jing Tang; Yu Han; Qibin Xiao; Yingping Deng
Journal:  BMC Ophthalmol       Date:  2018-09-18       Impact factor: 2.209

7.  Brittle cornea syndrome: current perspectives.

Authors:  Andrew Walkden; Emma Burkitt-Wright; Leon Au
Journal:  Clin Ophthalmol       Date:  2019-08-12
  7 in total

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