A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation

被引:4
|
作者
Kalyanasundaram, T. S. [1 ]
Black, G. C. [1 ]
O'Sullivan, J. [1 ]
Bishop, P. N. [1 ]
机构
[1] Manchester Royal Eye Hosp, Dept Ophthalmol, Manchester M13 9WH, Lancs, England
关键词
RETINITIS-PIGMENTOSA; GENE;
D O I
10.1038/eye.2008.33
中图分类号
R77 [眼科学];
学科分类号
100212 ;
摘要
引用
收藏
页码:237 / 239
页数:4
相关论文
共 50 条
  • [31] Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcome
    Gliem, Martin
    Mueller, Philipp L.
    Mangold, Elisabeth
    Holz, Frank G.
    Bolz, Hanno J.
    Stoehr, Heidi
    Weber, Bernhard H. F.
    Issa, Peter Charbel
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2015, 56 (04) : 2664 - 2676
  • [32] PATTERN DYSTROPHY WITH HIGH INTRAFAMILIAL VARIABILITY ASSOCIATED WITH Y141C MUTATION IN THE PERIPHERIN/RDS GENE AND SUCCESSFUL TREATMENT OF SUBFOVEAL CNV RELATED TO MULTIFOCAL PATTERN TYPE WITH ANTI-VEGF (RANIBIZUMAB) INTRAVITREAL INJECTIONS
    Vaclavik, Veronika
    Tran, Hoai V.
    Gaillard, Marie-Claire
    Schorderet, Daniel F.
    Munier, Francis L.
    RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 2012, 32 (09): : 1942 - 1949
  • [33] Phenotypic variability in a French family with a novel mutation in the BEST1 gene causing multifocal best vitelliform macular dystrophy
    Lacassagne, Emmanuelle
    Dhuez, Aurore
    Rigaudiere, Florence
    Dansault, Anouk
    Vetu, Christelle
    Bigot, Karine
    Vieira, Veronique
    Puech, Bernard
    Defoort-Dhellemmes, Sabine
    Abitbol, Marc
    MOLECULAR VISION, 2011, 17 (37): : 309 - 322
  • [34] PRPH2 mutation as the cause of various clinical manifestations in a family affected with inherited retinal dystrophy
    Daftarian, Narsis
    Mirrahimi, Mehraban
    Sabbaghi, Hamideh
    Moghadasi, Afrooz
    Zal, Niloufar
    Banadaki, Hossein Dehghan
    Ahmadieh, Hamid
    Suri, Fatemeh
    OPHTHALMIC GENETICS, 2019, 40 (05) : 436 - 442
  • [35] Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
    Kahraman, Neslihan Sinim
    Oner, Ayse
    Ozkul, Yusuf
    Dundar, Munis
    TURK OFTALMOLOJI DERGISI-TURKISH JOURNAL OF OPHTHALMOLOGY, 2022, 52 (04): : 270 - 275
  • [36] Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan
    Chen, Zhen-Ji
    Lin, Keng-Hung
    Lee, Shi-Huang
    Shen, Ren-Juan
    Feng, Zhuo-Kun
    Wang, Xiao-Fang
    Huang, Xiu-Feng
    Huang, Zhi-Qin
    Jin, Zi-Bing
    CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY, 2020, 48 (04): : 486 - 499
  • [37] Mutation Screening of Retinal Dystrophy Patients by Targeted Capture from Tagged Pooled DNAs and Next Generation Sequencing
    Watson, Christopher M.
    El-Asrag, Mohammed
    Parry, David A.
    Morgan, Joanne E.
    Logan, Clare V.
    Carr, Ian M.
    Sheridan, Eamonn
    Charlton, Ruth
    Johnson, Colin A.
    Taylor, Graham
    Toomes, Carmel
    McKibbin, Martin
    Inglehearn, Chris F.
    Ali, Manir
    PLOS ONE, 2014, 9 (08):
  • [38] A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family
    Banerjee, Santasree
    Dai, Yi
    Liang, Shengran
    Chen, Huishuang
    Wang, Yanyan
    Tang, Lihui
    Wu, Jing
    Huang, Hui
    JOURNAL OF CLINICAL NEUROSCIENCE, 2016, 31 : 182 - 184
  • [39] RPE65-related retinal dystrophy: Mutational and phenotypic spectrum in 45 affected patients
    Lopez-Rodriguez, Rosario
    Lantero, Esther
    Blanco-Kelly, Fiona
    Avila-Fernandez, Almudena
    Martin Merida, Inmaculada
    Del Pozo-Valero, Marta
    Perea-Romero, Irene
    Zurita, Olga
    Jimenez-Rolando, Belen
    Tahsin Swafiri, Saoud
    Riveiro-Alvarez, Rosa
    Jose Trujillo-Tiebas, Maria
    Carreno Salas, Ester
    Garcia-Sandoval, Blanca
    Corton, Marta
    Ayuso, Carmen
    EXPERIMENTAL EYE RESEARCH, 2021, 212
  • [40] Early Onset Retinal Dystrophy Due to Mutations in LRAT: Molecular Analysis and Detailed Phenotypic Study
    Borman, Arundhati Dev
    Ocaka, Louise A.
    Mackay, Donna S.
    Ripamonti, Caterina
    Henderson, Robert H.
    Moradi, Phillip
    Hall, Georgina
    Black, Graeme C.
    Robson, Anthony G.
    Holder, Graham E.
    Webster, Andrew R.
    Fitzke, Fred
    Stockman, Andrew
    Moore, Anthony T.
    INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2012, 53 (07) : 3927 - 3938