메뉴 건너뛰기




Volumn 56, Issue 1, 2015, Pages 107-114

Cone responses in usher syndrome types 1 and 2 by microvolt electroretinography

Author keywords

Cone function; Microvolt electroretinogram; Usher genes; Usher syndrome

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CLINICAL ARTICLE; COMPARATIVE EFFECTIVENESS; CONE RESPONSE; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; ELECTRORETINOGRAPHY; FEMALE; HUMAN; MALE; MIDDLE AGED; SIGNAL NOISE RATIO; STRUCTURE ACTIVITY RELATION; USHER SYNDROME; VISUAL ACUITY; VISUAL SYSTEM FUNCTION; YOUNG ADULT; COMPARATIVE STUDY; FOLLOW UP; GENETICS; GENOTYPE; PATHOPHYSIOLOGY; PHYSIOLOGY; PROCEDURES; RANDOMIZED CONTROLLED TRIAL; REPRODUCIBILITY; RETINA CONE;

EID: 84920507800     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.14-15355     Document Type: Article
Times cited : (14)

References (32)
  • 3
    • 0036117719 scopus 로고    scopus 로고
    • Usher syndrome clinical types I and II: Could ocular symptoms and signs differentiate between the two types?
    • Tsilou ET, Rubin BI, Caruso RC, et al. Usher syndrome clinical types I and II: could ocular symptoms and signs differentiate between the two types? Acta Ophthalmol Scand. 2002;80: 196–201.
    • (2002) Acta Ophthalmol Scand , vol.80 , pp. 196-201
    • Tsilou, E.T.1    Rubin, B.I.2    Caruso, R.C.3
  • 4
    • 0035775666 scopus 로고    scopus 로고
    • Usher syndrome: From genetics to pathogenesis
    • Petit C. Usher syndrome: from genetics to pathogenesis. Annu Rev Genomics Human Genet. 2001;2:271–297.
    • (2001) Annu Rev Genomics Human Genet , vol.2 , pp. 271-297
    • Petit, C.1
  • 5
    • 84889790542 scopus 로고    scopus 로고
    • Usher protein functions in hair cells and photoreceptors
    • Cosgrove D, Zallocchi M. Usher protein functions in hair cells and photoreceptors. Int J Biochem Cell Biol. 2014;46:80–89.
    • (2014) Int J Biochem Cell Biol , vol.46 , pp. 80-89
    • Cosgrove, D.1    Zallocchi, M.2
  • 6
    • 33847282820 scopus 로고    scopus 로고
    • Development of a genotyping microarray for Usher syndrome
    • Cremers FP, Kimberling WJ, Kulm M, et al. Development of a genotyping microarray for Usher syndrome. J Med Genet. 2007;44:153–160.
    • (2007) J Med Genet , vol.44 , pp. 153-160
    • Cremers, F.P.1    Kimberling, W.J.2    Kulm, M.3
  • 7
    • 33646856845 scopus 로고    scopus 로고
    • Molecular basis of human Usher syndrome: Deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
    • Reiners J, Nagel-Wolfrum K, Jurgens K, Marker T, Wolfrum U. Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease. Exp Eye Res. 2006; 83:97–119.
    • (2006) Exp Eye Res , vol.83 , pp. 97-119
    • Reiners, J.1    Nagel-Wolfrum, K.2    Jurgens, K.3    Marker, T.4    Wolfrum, U.5
  • 8
    • 38749124706 scopus 로고    scopus 로고
    • Usher syndrome: Animal models, retinal function of Usher proteins, and prospects for gene therapy
    • Williams DS. Usher syndrome: animal models, retinal function of Usher proteins, and prospects for gene therapy. Vision Res. 2008;48:433–441.
    • (2008) Vision Res , vol.48 , pp. 433-441
    • Williams, D.S.1
  • 9
    • 13944283732 scopus 로고    scopus 로고
    • Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype
    • Schwartz SB, Aleman TS, Cideciyan AV, et al. Disease expression in Usher syndrome caused by VLGR1 gene mutation (USH2C) and comparison with USH2A phenotype. Invest Ophthalmol Vis Sci. 2005;46:734–743.
    • (2005) Invest Ophthalmol Vis Sci , vol.46 , pp. 734-743
    • Schwartz, S.B.1    Aleman, T.S.2    Cideciyan, A.V.3
  • 10
    • 84871801750 scopus 로고    scopus 로고
    • Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2
    • Fakin A, Jarc-Vidmar M, Glavac D, Bonnet C, Petit C, Hawlina M. Fundus autofluorescence and optical coherence tomography in relation to visual function in Usher syndrome type 1 and 2. Vision Res. 2012;75:60–70.
    • (2012) Vision Res , vol.75 , pp. 60-70
    • Fakin, A.1    Jarc-Vidmar, M.2    Glavac, D.3    Bonnet, C.4    Petit, C.5    Hawlina, M.6
  • 11
    • 84855170002 scopus 로고    scopus 로고
    • Retinal disease course in Usher syndrome 1B due to MYO7A mutations
    • Jacobson SG, Cideciyan AV, Gibbs D, et al. Retinal disease course in Usher syndrome 1B due to MYO7A mutations. Invest Ophthalmol Vis Sci. 2011;52:7924–7936.
    • (2011) Invest Ophthalmol Vis Sci , vol.52 , pp. 7924-7936
    • Jacobson, S.G.1    Cideciyan, A.V.2    Gibbs, D.3
  • 12
    • 0027537949 scopus 로고
    • Retinitis pigmentosa. The Friedenwald Lecture
    • Berson EL. Retinitis pigmentosa. The Friedenwald Lecture. Invest Ophthalmol Vis Sci. 1993;34:1659–1676.
    • (1993) Invest Ophthalmol Vis Sci , vol.34 , pp. 1659-1676
    • Berson, E.L.1
  • 15
    • 48049108714 scopus 로고    scopus 로고
    • Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism
    • Jacobson SG, Cideciyan AV, Aleman TS, et al. Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism. Hum Mol Genet. 2008;17:2405–2415.
    • (2008) Hum Mol Genet , vol.17 , pp. 2405-2415
    • Jacobson, S.G.1    Cideciyan, A.V.2    Aleman, T.S.3
  • 16
    • 0031802109 scopus 로고    scopus 로고
    • Submicrovolt flicker electroretinogram: Cycle-by-cycle recording of multiple harmonics with statistical estimation of measurement uncertainty
    • Sieving PA, Arnold EB, Jamison J, Liepa A, Coats C. Submicrovolt flicker electroretinogram: cycle-by-cycle recording of multiple harmonics with statistical estimation of measurement uncertainty. Invest Ophthalmol Vis Sci. 1998;39:1462–1469.
    • (1998) Invest Ophthalmol Vis Sci , vol.39 , pp. 1462-1469
    • Sieving, P.A.1    Arnold, E.B.2    Jamison, J.3    Liepa, A.4    Coats, C.5
  • 17
    • 59049100882 scopus 로고    scopus 로고
    • ISCEV Standard for full-field clinical electroretinography (2008 update)
    • Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field clinical electroretinography (2008 update). Doc Ophthalmol. 2009;118:69–77.
    • (2009) Doc Ophthalmol , vol.118 , pp. 69-77
    • Marmor, M.F.1    Fulton, A.B.2    Holder, G.E.3
  • 18
    • 0032777712 scopus 로고    scopus 로고
    • Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic bwave
    • Sieving PA, Bingham EL, Kemp J, Richards J, Hiriyanna K. Juvenile X-linked retinoschisis from XLRS1 Arg213Trp mutation with preservation of the electroretinogram scotopic bwave. Am J Ophthalmol. 1999;128:179–184.
    • (1999) Am J Ophthalmol , vol.128 , pp. 179-184
    • Sieving, P.A.1    Bingham, E.L.2    Kemp, J.3    Richards, J.4    Hiriyanna, K.5
  • 19
    • 84875944287 scopus 로고    scopus 로고
    • Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease
    • Jenkinson EM, Rehman AU, Walsh T, et al. Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease. Am J Hum Genet. 2013;92:605–613.
    • (2013) Am J Hum Genet , vol.92 , pp. 605-613
    • Jenkinson, E.M.1    Rehman, A.U.2    Walsh, T.3
  • 20
    • 84891818956 scopus 로고    scopus 로고
    • Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB 86
    • Rehman AU, Santos-Cortez RLP, Morell RJ, et al. Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB 86. Am J Hum Genet. 2014; 94:144–152.
    • (2014) Am J Hum Genet , vol.94 , pp. 144-152
    • Rehman, A.U.1    Santos-Cortez, R.2    Morell, R.J.3
  • 21
    • 0035168168 scopus 로고    scopus 로고
    • Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH 23
    • Bork JM, Peters LM, Riazuddin S, et al. Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH 23. Am J Hum Genet. 2001;68:26–37.
    • (2001) Am J Hum Genet , vol.68 , pp. 26-37
    • Bork, J.M.1    Peters, L.M.2    Riazuddin, S.3
  • 22
    • 0037311414 scopus 로고    scopus 로고
    • Regional cone dysfunction in retinitis pigmentosa evaluated by flicker ERGs: Relationship with perimetric sensitivity losses
    • Iarossi G, Falsini B, Piccardi M. Regional cone dysfunction in retinitis pigmentosa evaluated by flicker ERGs: relationship with perimetric sensitivity losses. Invest Ophthalmol Vis Sci. 2003;44:866–874.
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 866-874
    • Iarossi, G.1    Falsini, B.2    Piccardi, M.3
  • 23
    • 0036293564 scopus 로고    scopus 로고
    • Post-photoreceptoral activity dominates primate photopic 32-Hz ERG for sine-, square-, and pulsed stimuli
    • Kondo M, Sieving PA. Post-photoreceptoral activity dominates primate photopic 32-Hz ERG for sine-, square-, and pulsed stimuli. Invest Ophthalmol Vis Sci. 2002;43:2500–2507.
    • (2002) Invest Ophthalmol Vis Sci , vol.43 , pp. 2500-2507
    • Kondo, M.1    Sieving, P.A.2
  • 27
    • 34250186447 scopus 로고    scopus 로고
    • Natural course of visual field loss in patients with Type 2 Usher syndrome
    • Fishman GA, Bozbeyoglu S, Massof RW, Kimberling W. Natural course of visual field loss in patients with Type 2 Usher syndrome. Retina. 2007;27:601–608.
    • (2007) Retina , vol.27 , pp. 601-608
    • Fishman, G.A.1    Bozbeyoglu, S.2    Massof, R.W.3    Kimberling, W.4
  • 28
    • 68349104989 scopus 로고    scopus 로고
    • Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C
    • Williams DS, Aleman TS, Lillo C, et al. Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C. Invest Ophthalmol Vis Sci. 2009;50:3881–3889.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 3881-3889
    • Williams, D.S.1    Aleman, T.S.2    Lillo, C.3
  • 29
    • 79955761322 scopus 로고    scopus 로고
    • Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis
    • Bonnet C, Grati M, Marlin S, et al. Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis. 2011;6:21.
    • (2011) Orphanet J Rare Dis , vol.6 , pp. 21
    • Bonnet, C.1    Grati, M.2    Marlin, S.3
  • 30
    • 84920524498 scopus 로고    scopus 로고
    • Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome
    • Krawitz PM, Schiska D, Kruger U, et al. Screening for single nucleotide variants, small indels and exon deletions with a next-generation sequencing based gene panel approach for Usher syndrome. Mol Genet Genomic Med. 2014;2:393–401.
    • (2014) Mol Genet Genomic Med , vol.2 , pp. 393-401
    • Krawitz, P.M.1    Schiska, D.2    Kruger, U.3
  • 31
    • 84855992951 scopus 로고    scopus 로고
    • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study
    • Le Quesne Stabej P, Saihan Z, Rangesh N, et al. Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study. J Med Genet. 2012;49:27–36.
    • (2012) J Med Genet , vol.49 , pp. 27-36
    • Le Quesne Stabej, P.1    Saihan, Z.2    Rangesh, N.3
  • 32
    • 84881166113 scopus 로고    scopus 로고
    • Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing
    • Steele-Stallard HB, Le Quesne Stabej P, Lenassi E, et al. Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing. Orphanet J Rare Dis. 2013;8:122.
    • (2013) Orphanet J Rare Dis , vol.8 , pp. 122
    • Steele-Stallard, H.B.1    Le Quesne Stabej, P.2    Lenassi, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.