Elucidating the molecular genetic basis of the corneal dystrophies - Are we there yet?

被引:52
作者
Aldave, Anthony J. [1 ]
Sonmez, Baris [1 ]
机构
[1] Univ Calif Los Angeles, Jules Stein Eye Inst, Cornea Serv, Los Angeles, CA 90095 USA
关键词
D O I
10.1001/archopht.125.2.177
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
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.
引用
收藏
页码:177 / 186
页数:10
相关论文
共 141 条
[1]   Novel mutations in the CHST6 gene causing macular corneal dystrophy [J].
Abbruzzese, C ;
Kuhn, U ;
Molina, F ;
Rama, P ;
De Luca, M .
CLINICAL GENETICS, 2004, 65 (02) :120-125
[2]  
AFSHARI N, 2004, INVEST OPHTHALMOL VI, V45
[3]  
Afshari NA, 2001, ARCH OPHTHALMOL-CHIC, V119, P16
[4]   Macular corneal dystrophy type I and type II are caused by distinct mutations in a new sulphotransferase gene [J].
Akama, TO ;
Nishida, K ;
Nakayama, J ;
Watanabe, H ;
Ozaki, K ;
Nakamura, T ;
Dota, A ;
Kawasaki, S ;
Inoue, Y ;
Maeda, N ;
Yamamoto, S ;
Fujiwara, T ;
Thonar, EJMA ;
Shimomura, Y ;
Kinoshita, S ;
Tanigami, A ;
Fukuda, MN .
NATURE GENETICS, 2000, 26 (02) :237-241
[5]   Human corneal GlcNAc 6-O-sulfotransferase and mouse intestinal GlcNAc 6-O-sulfotransferase both produce keratan sulfate [J].
Akama, TO ;
Nakayama, J ;
Nishida, K ;
Hiraoka, N ;
Suzuki, M ;
McAuliffe, J ;
Hindsgaul, O ;
Fukuda, M ;
Fukuda, MN .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (19) :16271-16278
[6]   Deposits and proteoglycan changes in primary and recurrent granular dystrophy of the cornea [J].
Akhtar, S ;
Meek, KM ;
Ridgway, AEA ;
Bonshek, RE ;
Bron, AJ .
ARCHIVES OF OPHTHALMOLOGY, 1999, 117 (03) :310-321
[7]  
Aldave AJ, 2006, MOL VIS, V12, P142
[8]  
Aldave AJ, 2005, MOL VIS, V11, P713
[9]   A unique corneal dystrophy of Bowman's layer and stroma associated with the Gly623Asp mutation in the transforming growth factor β-induced (TGFBI) gene [J].
Aldave, AJ ;
Rayner, SA ;
King, JA ;
Affeldt, JA ;
Yellore, VS .
OPHTHALMOLOGY, 2005, 112 (06) :1017-1022
[10]   Candidate gene screening for posterior polymorphous dystrophy [J].
Aldave, AJ ;
Yellore, VS ;
Principe, AH ;
Abedi, G ;
Merrill, K ;
Chalukya, M ;
Small, KW ;
Udar, N .
CORNEA, 2005, 24 (02) :151-155