Literature DB >> 2668837

The dystrophy described by Reis and Bücklers. Separate entity or variant of the granular dystrophy?

D Wittebol-Post1, E Pels.   

Abstract

The dystrophy originally described by Reis and Bücklers shows electron-microscopically 'rod-shaped bodies' in the region of Bowman's membrane that cannot be distinguished from the 'rod-shaped bodies' in the granular dystrophy. Some authors conclude from this finding that the dystrophy is a superficial variant of the granular dystrophy. Our findings indeed point to the fact that the keratocytes are the primary source of the opacities as is the case in the granular dystrophy. From the clinical, biomicroscopic and light-microscopic differences, however, it seems likely that both dystrophies will in future be shown to be due to different biochemical defects or that they are at least allelic forms of the same biochemical defect.

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Year:  1989        PMID: 2668837     DOI: 10.1159/000310006

Source DB:  PubMed          Journal:  Ophthalmologica        ISSN: 0030-3755            Impact factor:   3.250


  4 in total

1.  TGFBI gene mutation analysis in a Chinese pedigree of Reis-Bücklers corneal dystrophy.

Authors:  Ke Ma; Guo Liu; Yin Yang; Man Yu; Ruifang Sui; Wenhan Yu; Xiaoming Chen; Yinping Deng; Naihong Yan; Guiqun Cao; Xuyang Liu
Journal:  Mol Vis       Date:  2010-03-31       Impact factor: 2.367

Review 2.  The IC3D classification of the corneal dystrophies.

Authors:  Jayne S Weiss; H U Møller; Walter Lisch; Shigeru Kinoshita; Anthony J Aldave; Michael W Belin; Tero Kivelä; Massimo Busin; Francis L Munier; Berthold Seitz; John Sutphin; Cecilie Bredrup; Mark J Mannis; Christopher J Rapuano; Gabriel Van Rij; Eung Kweon Kim; Gordon K Klintworth
Journal:  Cornea       Date:  2008-12       Impact factor: 2.651

Review 3.  Corneal dystrophies.

Authors:  Gordon K Klintworth
Journal:  Orphanet J Rare Dis       Date:  2009-02-23       Impact factor: 4.123

4.  An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.

Authors:  Dandan Li; Yanhua Qi; Li Wang; Hui Lin; Nan Zhou; Liming Zhao
Journal:  Mol Vis       Date:  2008-07-11       Impact factor: 2.367

  4 in total

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