A new phenotype of macular dystrophy associated with a mitochondrial A3243G mutation

被引:3
|
作者
Sivaprasad, Sobha [1 ]
Kung, Boom Ting [1 ]
Robson, Anthony G. [1 ]
Black, Graeme [2 ]
Webster, Andrew R. [1 ]
Bird, Alan [1 ]
Egan, Catherine [1 ]
机构
[1] Moorfields Eye Hosp, London EC1, England
[2] St Marys Hosp, Dept Clin Genet, Manchester M13 0JH, Lancs, England
来源
CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY | 2008年 / 36卷 / 01期
关键词
D O I
10.1111/j.1442-9071.2007.01656.x
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:92 / 93
页数:2
相关论文
共 50 条
  • [1] Fundus autofluorescence in macular dystrophy associated with mitochondrial DNA nucleotide A3243G point mutation
    Rath, PP
    Jenkins, S
    Lesnick-Oberstein, SY
    Bird, AC
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2002, 43 : U1256 - U1256
  • [2] A3243G mitochondrial mutation associated with polymicrogyria
    Keng, WT
    Pilz, DT
    Minns, B
    FitzPatrick, DR
    DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY, 2003, 45 (10): : 704 - 708
  • [3] Endothelial Corneal Dystrophy Associated with A3243G Mitochondrial DNA Point Mutation
    Bakhoum, Mathieu F.
    White, Eugenia C.
    Wu, Wei-Pu
    Sengillo, Jesse D.
    Kramer, Gregory D.
    Perry, Henry D.
    Tsang, Stephen H.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2017, 58 (08)
  • [4] Characterisation of the macular dystrophy in patients with the A3243G mitochondrial DNA point mutation with fundus autofluorescence
    Rath, P. P.
    Jenkins, S.
    Michaelides, M.
    Smith, A.
    Sweeney, M. G.
    Davis, M. B.
    Fitzke, F. W.
    Bird, A. C.
    BRITISH JOURNAL OF OPHTHALMOLOGY, 2008, 92 (05) : 623 - 629
  • [5] An infant with a mitochondrial A3243G mutation demonstrating the MELAS phenotype
    Kanaumi, T
    Hirose, S
    Goto, Y
    Naitou, E
    Mitsudome, A
    PEDIATRIC NEUROLOGY, 2006, 34 (03) : 235 - 238
  • [6] GENOTYPE TO PHENOTYPE CORRELATIONS IN MITOCHONDRIAL ENCEPHALOMYOPATHIES ASSOCIATED WITH THE A3243G MUTATION OF MITOCHONDRIAL-DNA
    MARIOTTI, C
    SAVARESE, N
    SUOMALAINEN, A
    RIMOLDI, M
    COMI, G
    PRELLE, A
    ANTOZZI, C
    SERVIDEI, S
    JARRE, L
    DIDONATO, S
    ZEVIANI, M
    JOURNAL OF NEUROLOGY, 1995, 242 (05) : 304 - 312
  • [7] Manifestations of the mitochondrial A3243G mutation
    Finsterer, Josef
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2009, 137 (01) : 60 - 62
  • [8] Macular dystrophy associated with the A3243G mitochondrial DNA mutation - Distinct retinal and associated features, disease variability, and characterization of asymptomatic family members
    Michaelides, Michel
    Jenkins, Sharon A.
    Bamiou, Doris-Eva
    Sweeney, Mary G.
    Davis, Mary B.
    Luxon, Linda
    Bird, Alan C.
    Rath, Pamela P.
    ARCHIVES OF OPHTHALMOLOGY, 2008, 126 (03) : 320 - 328
  • [9] Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature
    Daruich, Alejandra
    Matet, Alexandre
    Borruat, Francois-Xavier
    BMC OPHTHALMOLOGY, 2014, 14
  • [10] Macular dystrophy associated with the mitochondrial DNA A3243G mutation: pericentral pigment deposits or atrophy? Report of two cases and review of the literature
    Alejandra Daruich
    Alexandre Matet
    François-Xavier Borruat
    BMC Ophthalmology, 14