Mutations in RPE65 cause an infantile rod cone dystrophy and absence of retinal autofluorescence

被引：0
|
作者：
Henderson, RHH
Waseem, NH
Bhattachyra, SS
Holder, G
Ikeji, F
Webster, AR
Moore, AT
机构：
来源：
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE | 2005年 / 46卷
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：
1813
引用
收藏
页数：1
相关论文
共 50 条
  • [31] Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy
    Kang, Connie
    Scott, Lesley J.
    MOLECULAR DIAGNOSIS & THERAPY, 2020, 24 (04) : 487 - 495
  • [32] Voretigene Neparvovec: A Review in RPE65 Mutation-Associated Inherited Retinal Dystrophy
    Connie Kang
    Lesley J. Scott
    Molecular Diagnosis & Therapy, 2020, 24 : 487 - 495
  • [33] RPE65 Mutations May be a Common Cause of Leber Congenital Amaurosis in India
    Gandra, M.
    Natarajan, S. N.
    Khetan, V.
    Arunachalam, J. P.
    Lingam, G.
    Jagadeesan, M.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2010, 51 (13)
  • [34] RPE65 mutations in childhood-onset, severe retinal degenerations.
    Thompson, DA
    Lorenz, B
    Gyürüs, P
    Gao, J
    Hanna, DB
    Andrassi, M
    Fielscher, L
    Sieving, PA
    Jacobson, SG
    Gal, A
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 1999, 40 (04) : S575 - S575
  • [35] The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation
    Wu, Wenjing
    Takahashi, Yusuke
    Shin, Henry Younghwa
    Ma, Xiang
    Moiseyev, Gennadiy
    Ma, Jian-Xing
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2022, 119 (11)
  • [36] A homozygous deletion in RPE65 in a small Sardinian family with autosomal recessive retinal dystrophy
    Poehner, WJ
    Fossarello, M
    Rapoport, AL
    Aleman, TS
    Cideciyan, AV
    Jacobson, SG
    Wright, AF
    Danciger, M
    Farber, DB
    MOLECULAR VISION, 2000, 6 (24): : 192 - 198
  • [37] RPE65 Regulates Retinal Energy Metabolism
    Cheng, Rui
    Hara, Miwa
    Wu, Wenjing Lily
    Moiseyev, Gennadiy P.
    Ma, Jian-Xing
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2024, 65 (07)
  • [38] Human cone photoreceptor dependence on RPE65 isomerase
    Jacobson, Samuel G.
    Aleman, Tomas S.
    Cideciyan, Artur V.
    Heon, Elise
    Golczak, Marcin
    Beltran, William A.
    Sumaroka, Alexander
    Schwartz, Sharon B.
    Roman, Alejandro J.
    Windsor, Elizabeth A. M.
    Wilson, James M.
    Aguirre, Gustavo D.
    Stone, Edwin M.
    Palczewski, Krzysztof
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (38) : 15123 - 15128
  • [39] Identification of the RPE65 protein in mammalian cone photoreceptors
    Znoiko, SL
    Crouch, RK
    Moiseyev, G
    Ma, JX
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 (05) : 1604 - 1609
  • [40] Longitudinal and cross-sectional study of patients with early-onset severe retinal dystrophy associated with RPE65 mutations
    Karina Paunescu
    Bettina Wabbels
    Markus N. Preising
    Birgit Lorenz
    Graefe's Archive for Clinical and Experimental Ophthalmology, 2005, 243 : 417 - 426
12345