Genetics of Primary Inherited Disorders of the Optic Nerve: Clinical Applications

被引:27
作者
Allen, Keri F. [1 ]
Gaier, Eric D. [1 ]
Wiggs, Janey L. [1 ]
机构
[1] Harvard Univ, Massachusetts Eye & Ear Infirm, Sch Med, Boston, MA 02114 USA
来源
COLD SPRING HARBOR PERSPECTIVES IN MEDICINE | 2015年 / 5卷 / 07期
关键词
TENSION GLAUCOMA PATIENTS; AXENFELD-RIEGER SYNDROME; CONGENITAL GLAUCOMA; CYP1B1; MUTATIONS; MOUSE MODEL; NEUROPATHY; SPECTRUM; PREVALENCE; THERAPY; FOXC1;
D O I
10.1101/cshperspect.a017277
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Inherited disorders of the optic nerve significantly impact vision in children and adults. The optic nerve disorders most commonly encountered clinically are glaucoma and primary optic neuropathy including Leber's hereditary optic neuropathy (LHON) and autosomal dominant or Kjer's optic atrophy. Current knowledge of the genetics of optic neuropathy and glaucoma makes it possible to test for mutations in disease-causing genes allowing for presymptomatic testing and risk assessment, and recent advances have revealed important disease mechanisms that may suggest potential therapeutic targets. In this perspective, we describe the current approaches and limitations to genetic testing for these disorders and provide an update on the development of gene-based therapies.
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页数:10
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共 57 条
  • [31] CYP1B1, MYOC, and LTBP2 Mutations in Primary Congenital Glaucoma Patients in the United States
    Lim, Sing-Hui
    Khanh-Nhat Tran-Viet
    Yanovitch, Tammy L.
    Freedman, Sharon F.
    Klemm, Thomas
    Call, Whitney
    Powell, Caldwell
    Ravichandran, Ajay
    Metlapally, Ravikanth
    Nading, Erica B.
    Rozen, Steve
    Young, Terri L.
    [J]. AMERICAN JOURNAL OF OPHTHALMOLOGY, 2013, 155 (03) : 508 - 517
  • [32] Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma
    Liu, YH
    Vollrath, D
    [J]. HUMAN MOLECULAR GENETICS, 2004, 13 (11) : 1193 - 1204
  • [33] Null CYP1B1 Genotypes in Primary Congenital and Nondominant Juvenile Glaucoma
    Lopez-Garrido, Maria-Pilar
    Medina-Trillo, Cristina
    Morales-Fernandez, Laura
    Garcia-Feijoo, Julian
    Martinez-de-la-Casa, Jose-Maria
    Garcia-Anton, Maite
    Escribano, Julio
    [J]. OPHTHALMOLOGY, 2013, 120 (04) : 716 - 723
  • [34] Mackey DA, 1996, AM J HUM GENET, V59, P481
  • [35] DNaseI Hypersensitivity and Ultraconservation Reveal Novel, Interdependent Long-Range Enhancers at the Complex Pax6 Cis-Regulatory Region
    McBride, David J.
    Buckle, Adam
    van Heyningen, Veronica
    Kleinjan, Dirk A.
    [J]. PLOS ONE, 2011, 6 (12):
  • [36] Millá E, 2013, MOL VIS, V19, P1707
  • [37] Neuhann T, 2013, EXPERT REV NEUROTHER, V13, P357, DOI [10.1586/ern.13.19, 10.1586/ERN.13.19]
  • [38] Effect of CNTF on Retinal Ganglion Cell Survival in Experimental Glaucoma
    Pease, Mary Ellen
    Zack, Donald J.
    Berlinicke, Cynthia
    Bloom, Kristen
    Cone, Frances
    Wang, Yuxia
    Klein, Ronald L.
    Hauswirth, William W.
    Quigley, Harry A.
    [J]. INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, 2009, 50 (05) : 2194 - 2200
  • [39] Redeker EJW, 2008, MOL VIS, V14, P836
  • [40] TBK1 Gene Duplication and Normal-Tension Glaucoma
    Ritch, Robert
    Darbro, Ben
    Menon, Geeta
    Khanna, Cheryl L.
    Solivan-Timpe, Frances
    Roos, Ben R.
    Sarfarzi, Mansoor
    Kawase, Kazuhide
    Yamamoto, Tetsuya
    Robin, Alan L.
    Lotery, Andrew J.
    Fingert, John H.
    [J]. JAMA OPHTHALMOLOGY, 2014, 132 (05) : 544 - 548