Literature DB >> 17296893

Elucidating the molecular genetic basis of the corneal dystrophies: are we there yet?

Anthony J Aldave1, Baris Sonmez.   

Abstract

The identification of the genetic basis of approximately half of the corneal dystrophies in the past decade has resulted in significant advances in our understanding of the genetic control of corneal clarity and has provided clinicians with a definitive means to confirm or refute presumptive clinical diagnoses. This article serves as a guide to understanding the genetic basis of the corneal dystrophies and provides a revised anatomically based classification system that is intended for the clinician, who must possess a working knowledge of the molecular genetic basis of the corneal dystrophies to accurately diagnose, counsel, and manage the disease in affected patients.

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Year:  2007        PMID: 17296893     DOI: 10.1001/archopht.125.2.177

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


  19 in total

1.  Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC.

Authors:  Anthony J Aldave; George O D Rosenwasser; Vivek S Yellore; Jeanette C Papp; Eric M Sobel; Michele N Pham; Michael C Chen; Sugandha Dandekar; Ram Sripracha; Sylvia A Rayner; Joseph W Sassani; Michael B Gorin
Journal:  Invest Ophthalmol Vis Sci       Date:  2010-03-31       Impact factor: 4.799

2.  Chinese family with atypical granular corneal dystrophy type I caused by the typical R555W mutation in TGFBI.

Authors:  Su-Juan Zhao; Ya-Nan Zhu; Xing-Chao Shentu; Qi Miao
Journal:  Int J Ophthalmol       Date:  2013-08-18       Impact factor: 1.779

3.  Keratoconus associated with corneal stromal amyloid deposition containing TGFBIp.

Authors:  Tak Yee Tania Tai; Mausam R Damani; Rosalind Vo; Sylvia A Rayner; Ben J Glasgow; John D Hofbauer; Richard Casey; Anthony J Aldave
Journal:  Cornea       Date:  2009-06       Impact factor: 2.651

Review 4.  Molecular bases of corneal endothelial dystrophies.

Authors:  Thore Schmedt; Mariana Mazzini Silva; Alireza Ziaei; Ula Jurkunas
Journal:  Exp Eye Res       Date:  2011-08-10       Impact factor: 3.467

5.  [New international classification of corneal dystrophies (CD)].

Authors:  W Lisch; B Seitz
Journal:  Ophthalmologe       Date:  2011-09       Impact factor: 1.059

6.  TGFBI, CHST6, and GSN gene analysis in Mexican patients with stromal corneal dystrophies.

Authors:  Johanna Gonzalez-Rodriguez; Arturo Ramirez-Miranda; Sergio E Hernandez-Da Mota; Juan C Zenteno
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2014-05-07       Impact factor: 3.117

Review 7.  Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.

Authors:  Juhua Yang; Xiaoli Han; Dinggou Huang; Lin Yu; Yihua Zhu; Yi Tong; Binliang Zhu; Chuanbao Li; Mingshe Weng; Xu Ma
Journal:  Mol Vis       Date:  2010-06-30       Impact factor: 2.367

8.  Classic lattice corneal dystrophy associated with monoclonal gammopathy after exclusion of a TGFBI mutation.

Authors:  Khairidzan M Kamal; Sylvia A Rayner; Michael C Chen; Anthony J Aldave
Journal:  Cornea       Date:  2009-01       Impact factor: 2.651

9.  A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.

Authors:  Anthony J Aldave; Vivek S Yellore; Baris Sonmez; Nirit Bourla; Andrew K Salem; M Ali Khan; Sylvia A Rayner; Ben J Glasgow
Journal:  Arch Ophthalmol       Date:  2008-03

10.  Uncovering the profile of mutations of transforming growth factor beta-induced gene in Chinese corneal dystrophy patients.

Authors:  Xiao-Dan Hao; Yang-Yang Zhang; Peng Chen; Su-Xia Li; Ye Wang
Journal:  Int J Ophthalmol       Date:  2016-02-18       Impact factor: 1.779

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