Ocular genetics: Current understanding

被引:21
作者
MacDonald, IM [1 ]
Tran, M
Musarella, MA
机构
[1] Univ Alberta, Dept Ophthalmol, Edmonton, AB, Canada
[2] Long Isl Coll Hosp, Dept Ophthalmol, Brooklyn, NY 11201 USA
[3] Suny Downstate Med Ctr, Dept Ophthalmol, Brooklyn, NY 11203 USA
关键词
genetic counseling; molecular genetics; ocular genetics;
D O I
10.1016/j.survophthal.2003.12.003
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
Over the past decade, there has been an exponential increase in our knowledge of heritable eye conditions. Coincidentally, our ability to provide accurate genetic diagnoses has allowed appropriate counseling to patients and families. A summary of our current understanding of ocular genetics will prove useful to clinicians, researchers, and students as an introduction to the subject. ((C) 2004 Elsevier Inc. All rights reserved).
引用
收藏
页码:159 / 196
页数:38
相关论文
共 439 条
[31]   HOMOZYGOUS TANDEM DUPLICATION WITHIN THE GENE ENCODING THE BETA-SUBUNIT OF ROD PHOSPHODIESTERASE AS A CAUSE FOR AUTOSOMAL RECESSIVE RETINITIS-PIGMENTOSA [J].
BAYES, M ;
GIORDANO, M ;
BALCELLS, S ;
GRINBERG, D ;
VILAGELIU, L ;
MARTINEZ, I ;
AYUSO, C ;
BENITEZ, J ;
RAMOSARROYO, MA ;
CHIVELET, P ;
SOLANS, T ;
VALVERDE, D ;
AMSELEM, S ;
GOOSSENS, M ;
BAIGET, M ;
GONZALEZDUARTE, R ;
BESMOND, C .
HUMAN MUTATION, 1995, 5 (03) :228-234
[32]   A new autosomal recessive retinitis pigmentosa locus maps on chromosome 2q31-q33 [J].
Bayés, M ;
Goldaracena, B ;
Martínez-Mir, A ;
Iragui-Madoz, MI ;
Solans, T ;
Chivelet, P ;
Bussaglia, E ;
Ramos-Arroyo, MA ;
Baiget, M ;
Vilageliu, L ;
Balcells, S ;
Gonzàlez-Duarte, R ;
Grinberg, D .
JOURNAL OF MEDICAL GENETICS, 1998, 35 (02) :141-145
[33]   Bardet-Biedl syndrome: A molecular and phenotypic study of 18 families [J].
Beales, PL ;
Warner, AM ;
Hitman, GA ;
Thakker, R ;
Flinter, FA .
JOURNAL OF MEDICAL GENETICS, 1997, 34 (02) :92-98
[34]  
Beauchamp G R, 1984, J Pediatr Ophthalmol Strabismus, V21, P209
[35]   Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness [J].
Bech-Hansen, NT ;
Naylor, MJ ;
Maybaum, TA ;
Sparkes, RL ;
Koop, B ;
Birch, DG ;
Bergen, AAB ;
Prinsen, CFM ;
Polomeno, RC ;
Gal, A ;
Drack, AV ;
Musarella, MA ;
Jacobson, SG ;
Young, RSL ;
Weleber, RG .
NATURE GENETICS, 2000, 26 (03) :319-323
[36]   Localization of a gene for incomplete X-linked congenital stationary night blindness to the interval between DXS6849 and DXS8023 in Xp11.23 [J].
Bech-Hansen, NT ;
Boycott, KM ;
Gratton, KJ ;
Boss, DA ;
Field, LL ;
Pearce, WG .
HUMAN GENETICS, 1998, 103 (02) :124-130
[37]   Loss-of-function mutations in a calcium-channel α1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness [J].
Bech-Hansen, NT ;
Naylor, MJ ;
Maybaum, TA ;
Pearce, WG ;
Koop, B ;
Fishman, GA ;
Mets, M ;
Musarella, MA ;
Boycott, KM .
NATURE GENETICS, 1998, 19 (03) :264-267
[38]   Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25 [J].
Belmouden, A ;
Adam, MF ;
deDinechin, SD ;
Brezin, AP ;
Rigault, P ;
Chumakov, I ;
Bach, JF ;
Garchon, HJ .
GENOMICS, 1997, 39 (03) :348-358
[39]   CHARACTERISTICS AND OUTCOME IN ARRHYTHMOGENIC RIGHT-VENTRICULAR DYSPLASIA [J].
BERDER, V ;
VAUTHIER, M ;
MABO, P ;
DEPLACE, C ;
LAURENT, M ;
ALMANGE, C ;
DAUBERT, C .
AMERICAN JOURNAL OF CARDIOLOGY, 1995, 75 (05) :411-414
[40]  
Berg F., 1932, ACTA OPHTHALMOL, V10, P568, DOI [10.1111/j.1755-3768.1932.tb07210.x, DOI 10.1111/J.1755-3768.1932.TB07210.X]