MOLECULAR-GENETICS OF RETINITIS-PIGMENTOSA

被引:224
|
作者
DRYJA, TP [1 ]
LI, T [1 ]
机构
[1] HARVARD UNIV,MASSACHUSETTS EYE & EAR INFIRM,SCH MED,BERMAN GUND LAB STUDY RETINAL DEGENERAT,BOSTON,MA 02114
关键词
D O I
10.1093/hmg/4.suppl_1.1739
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Hereditary degenerations and dysfunctions of the retina are an extremely heterogeneous group of diseases. This summary deals with recent advances in the molecular genetics of a subset of those disorders, namely, those encompassed under the diagnosis 'retinitis pigmentosa'. Over 20 loci where mutations cause retinitis pigmentosa have been mapped; the review focuses on the seven retinitis pigmentosa loci that have been identified.
引用
收藏
页码:1739 / 1743
页数:5
相关论文
共 50 条
  • [21] NEGATIVE ELECTRORETINOGRAMS IN RETINITIS-PIGMENTOSA
    JACOBSON, SG
    CIDECIYAN, AV
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1993, 34 (04) : 1368 - 1368
  • [22] NEEDS AND STRESSES IN RETINITIS-PIGMENTOSA
    SIMON, A
    TANEWSKI, J
    SOUTH AFRICAN MEDICAL JOURNAL, 1991, 80 (08): : 410 - 410
  • [23] APOPTOSIS, RETINITIS-PIGMENTOSA, AND DEGENERATION
    WONG, P
    BIOCHEMISTRY AND CELL BIOLOGY-BIOCHIMIE ET BIOLOGIE CELLULAIRE, 1994, 72 (11-12): : 489 - 498
  • [24] STEREOACUITY IN RETINITIS-PIGMENTOSA PATIENTS
    AMOROSO, L
    PIERAZZI, MC
    GIUSTI, C
    PANNARALE, L
    FERRELLI, F
    VINGOLO, EM
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1994, 35 (04) : 1958 - 1958
  • [25] PREVALENCE OF RETINITIS-PIGMENTOSA IN SLOVENIA
    PETERLIN, B
    CANKIKLAIN, N
    MORELA, V
    STIRN, B
    RAINER, S
    CERAR, V
    CLINICAL GENETICS, 1992, 42 (03) : 122 - 123
  • [26] RETINITIS-PIGMENTOSA AND MUTATIONS IN RHODOPSIN
    BHATTACHARYA, S
    LESTER, D
    KEEN, J
    BASHIR, R
    LAUFFART, B
    INGLEHEARN, CF
    JAY, M
    BIRD, AC
    LANCET, 1991, 337 (8734): : 185 - 185
  • [27] ELECTRORETINOGRAPHIC FINDINGS IN RETINITIS-PIGMENTOSA
    BERSON, EL
    JAPANESE JOURNAL OF OPHTHALMOLOGY, 1987, 31 (03) : 327 - 348
  • [28] RETINITIS-PIGMENTOSA AND RETINAL NEOVASCULARIZATION
    ULISS, AE
    GREGOR, ZJ
    BIRD, AC
    OPHTHALMOLOGY, 1986, 93 (12) : 1599 - 1603
  • [29] NEGATIVE ELECTRORETINOGRAMS IN RETINITIS-PIGMENTOSA
    CIDECIYAN, AV
    JACOBSON, SG
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1993, 34 (12) : 3253 - 3263
  • [30] ADVANCES IN THE UNDERSTANDING OF RETINITIS-PIGMENTOSA
    RICH, W
    EYE, 1992, 6 : R7 - R7