Literature DB >> 7115174

Ocular findings in osteogenesis imperfecta congenita.

C C Chan, W R Green, Z C de la Cruz, A Hillis.   

Abstract

Osteogenesis imperfecta is a rare, inherited, connective-tissue disorder. The three main signs of this disease are multiple bone fractures, blue scleras, and deafness (osteosclerotic type). In our research, only a few reports of the morphologic studies of the eyes of patients with osteogenesis imperfecta were found. This report describes the ocular histopathologic condition of four cases of osteogenesis imperfecta congenita, with emphasis on the ultrastructural characteristics of the collagen in the cornea and sclera.

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Year:  1982        PMID: 7115174     DOI: 10.1001/archopht.1982.01030040437014

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


  13 in total

1.  Progressive myopia due to posterior staphyloma in Type I Osteogenesis Imperfecta.

Authors:  Andrew Scott; Shahram Kashani; Hamish M A Towler
Journal:  Int Ophthalmol       Date:  2006-12-06       Impact factor: 2.031

2.  [Osteogenesis imperfecta and glaucoma. A case report].

Authors:  J Rosbach; U Vossmerbaeumer; G Renieri; N Pfeiffer; H Thieme
Journal:  Ophthalmologe       Date:  2012-05       Impact factor: 1.059

3.  Candidate gene study to investigate the genetic determinants of normal variation in central corneal thickness.

Authors:  David P Dimasi; Kathryn P Burdon; Alex W Hewitt; Ravi Savarirayan; Paul R Healey; Paul Mitchell; David A Mackey; Jamie E Craig
Journal:  Mol Vis       Date:  2010-03-31       Impact factor: 2.367

4.  Novel quantitative trait loci for central corneal thickness identified by candidate gene analysis of osteogenesis imperfecta genes.

Authors:  David P Dimasi; Jern Y Chen; Alex W Hewitt; Sonja Klebe; Richard Davey; John Stirling; Elizabeth Thompson; Robin Forbes; Tiong Y Tan; Ravi Savarirayan; David A Mackey; Paul R Healey; Paul Mitchell; Kathryn P Burdon; Jamie E Craig
Journal:  Hum Genet       Date:  2009-08-28       Impact factor: 4.132

5.  Histopathologic and electron-microscopic features of corneal and scleral collagen fibers in osteogenesis imperfecta type III.

Authors:  H Mietz; L Kasner; W R Green
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1997-07       Impact factor: 3.117

Review 6.  Bowman's layer in the cornea- structure and function and regeneration.

Authors:  Steven E Wilson
Journal:  Exp Eye Res       Date:  2020-04-24       Impact factor: 3.467

7.  Osteogenesis Imperfecta: A Review with Clinical Examples.

Authors:  F S van Dijk; J M Cobben; A Kariminejad; A Maugeri; P G J Nikkels; R R van Rijn; G Pals
Journal:  Mol Syndromol       Date:  2011-10-12

8.  Ocular characteristics and complications in patients with osteogenesis imperfecta: a systematic review.

Authors:  Sanne Treurniet; Pia Burger; Ebba A E Ghyczy; Frank D Verbraak; Katie R Curro-Tafili; Dimitra Micha; Nathalie Bravenboer; Stuart H Ralston; Ralph de Vries; Annette C Moll; Elisabeth Marelise W Eekhoff
Journal:  Acta Ophthalmol       Date:  2021-05-19       Impact factor: 3.988

9.  Bilateral papilledema in a child with osteogenesis imperfecta.

Authors:  Selam Yekta Sendul; Cemile Ucgul Atilgan; Semra Tiryaki; Dilek Guven
Journal:  Eye Vis (Lond)       Date:  2016-10-17

10.  Expanding the clinical spectrum of COL1A1 mutations in different forms of glaucoma.

Authors:  Lucia Mauri; Steffen Uebe; Heinrich Sticht; Urs Vossmerbaeumer; Nicole Weisschuh; Emanuela Manfredini; Edoardo Maselli; Mariacristina Patrosso; Robert N Weinreb; Silvana Penco; André Reis; Francesca Pasutto
Journal:  Orphanet J Rare Dis       Date:  2016-08-02       Impact factor: 4.123

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