Three family cases with Retinitis pigmentosa rod -cone dystrophy with autosomal dominant inheritance

被引:0
|
作者
Koev, K.
机构
关键词
D O I
暂无
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
ABS15-0352
引用
收藏
页数:3
相关论文
共 50 条
  • [21] AUTOSOMAL-DOMINANT CONE-ROD DYSTROPHY WITH NEGATIVE ELECTRORETINOGRAM
    FUJII, N
    SHIONO, T
    WADA, Y
    NAKAZAWA, M
    TAMAI, M
    YAMADA, N
    BRITISH JOURNAL OF OPHTHALMOLOGY, 1995, 79 (10) : 916 - 921
  • [22] CONE DYSTROPHY WITH DOMINANT INHERITANCE
    PEARLMAN, JT
    OWEN, WG
    BROUNLEY, DW
    SHEPPARD, JJ
    AMERICAN JOURNAL OF OPHTHALMOLOGY, 1974, 77 (03) : 293 - 303
  • [23] Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family
    Kei Mizobuchi
    Takaaki Hayashi
    Tomokazu Matsuura
    Tadashi Nakano
    Documenta Ophthalmologica, 2022, 144 : 227 - 235
  • [24] RHODOPSIN AND AUTOSOMAL DOMINANT RETINITIS-PIGMENTOSA
    DRYJA, TP
    EYE, 1992, 6 : 1 - 10
  • [25] DERMATOPATHIA PIGMENTOSA RETICULARIS - A REPORT OF A FAMILY DEMONSTRATING AUTOSOMAL DOMINANT INHERITANCE
    HEIMER, WL
    BRAUNER, G
    JAMES, WD
    JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1992, 26 (02) : 298 - 301
  • [26] Clinical characterization of autosomal dominant retinitis pigmentosa with NRL mutation in a three-generation Japanese family
    Mizobuchi, Kei
    Hayashi, Takaaki
    Matsuura, Tomokazu
    Nakano, Tadashi
    DOCUMENTA OPHTHALMOLOGICA, 2022, 144 (03) : 227 - 235
  • [27] A Comprehensive Genetic Screen of Patients With Autosomal Dominant Cone and Cone-Rod Dystrophy
    Kohl, S.
    Kitiratschky, V. B. D.
    Wissinger, B.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [28] HLA IN AUTOSOMAL DOMINANT AND RECESSIVE RETINITIS PIGMENTOSA
    MAYR, WR
    GRABNER, G
    THALER, A
    HEILIG, P
    OPHTHALMIC RESEARCH, 1980, 12 (5-6) : 270 - 276
  • [29] AUTOSOMAL DOMINANT RETINITIS PIGMENTOSA - A METHOD OF CLASSIFICATION
    FISHMAN, GA
    ALEXANDER, KR
    ANDERSON, RJ
    ARCHIVES OF OPHTHALMOLOGY, 1985, 103 (03) : 366 - 374
  • [30] Enhanced S-cone syndrome in a pedigree including autosomal dominant retinitis pigmentosa
    MacKay, CJ
    Gouras, P
    Hayashi, M
    Zernant, J
    Allikmets, R
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2004, 45 : U200 - U200