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Volumn 50, Issue 4, 2010, Pages 45-56

Inherited retinal degenerations

(1)  Fasiuddin, Airaj a  

a NONE

Author keywords

[No Author keywords available]

Indexed keywords

BEST VITELLIFORM DYSTROPHY; CLINICAL FEATURE; COLOR BLINDNESS; ELECTRORETINOGRAM; GENETIC ASSOCIATION; HUMAN; INHERITANCE; LEBER CONGENITAL AMAUROSIS; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINA DEGENERATION; RETINA MACULA DEGENERATION; RETINITIS PIGMENTOSA; REVIEW; STARGARDT DISEASE;

EID: 77958451214     PISSN: 00208167     EISSN: None     Source Type: Journal    
DOI: 10.1097/IIO.0b013e3181f1287b     Document Type: Review
Times cited : (7)

References (38)
  • 1
    • 0014837064 scopus 로고
    • Electroretinography: Some basic principles
    • Gouras P. Electroretinography: some basic principles. Invest Ophthalmol. 1970;9: 557-569.
    • (1970) Invest Ophthalmol , vol.9 , pp. 557-569
    • Gouras, P.1
  • 2
    • 59049100882 scopus 로고    scopus 로고
    • ISCEV Standard for full-field electroretinography 2008 update)
    • Marmor MF, Fulton AB, Holder GE, et al. ISCEV Standard for full-field 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
  • 3
    • 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
  • 4
    • 84940140093 scopus 로고
    • Importance diagnostique et prognostique de l'électro- rétinogramme (ERG) dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie
    • Franceschetti A, Dieterlé P. Importance diagnostique et prognostique de l'électro-rétinogramme (ERG), dans les dégénérescences tapéto-rétiniennes avec rétrécissement du champ visuel et héméralopie. Confin Neurol. 1954;14:184-186.
    • (1954) Confin Neurol , vol.14 , pp. 184-186
    • Franceschetti, A.1    Dieterlé, P.2
  • 5
    • 0016134917 scopus 로고
    • Congenital stationary night blindness
    • Carr R. Congenital stationary night blindness. Trans Am Ophthalmol Soc. 1974;72: 448-487.
    • (1974) Trans Am Ophthalmol Soc , vol.72 , pp. 448-487
    • Carr, R.1
  • 6
    • 0022528965 scopus 로고
    • Congenital stationary night blindness with negative electroretinogram. A new classification
    • Miyake Y, Yagasaki K, Horiguchi M, et al. Congenital stationary night blindness with negative electroretinogram. A new classification. Arch Ophthalmol. 1986;104: 1013-1020.
    • (1986) Arch Ophthalmol , vol.104 , pp. 1013-1020
    • Miyake, Y.1    Yagasaki, K.2    Horiguchi, M.3
  • 7
    • 68349100283 scopus 로고    scopus 로고
    • Genetic etiology and clinical consequences of complete and incomplete achromatopsia
    • Thiadens AA, Slingerland NW, Roosing S, et al. Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology. 2009;116: 1984-1989.
    • (2009) Ophthalmology , vol.116 , pp. 1984-1989
    • Thiadens, A.A.1    Slingerland, N.W.2    Roosing, S.3
  • 8
    • 0027434085 scopus 로고
    • Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene
    • Weleber RG, Carr RE, Murphey WH, et al. Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 or 154 of the peripherin/RDS gene. Arch Ophthalmol. 1993; 111:1531-1542.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1531-1542
    • Weleber, R.G.1    Carr, R.E.2    Murphey, W.H.3
  • 9
    • 33751550156 scopus 로고    scopus 로고
    • ISCEV Standard for Clinical Electro-oculography (EOG) 2006
    • Brown M, Marmor MF, Vaegan A. ISCEV Standard for Clinical Electro-oculography (EOG) 2006. Doc Ophthalmol. 2006;113:205-212.
    • (2006) Doc Ophthalmol , vol.113 , pp. 205-212
    • Brown, M.1    Marmor, M.F.2    Vaegan, A.3
  • 10
    • 77249140451 scopus 로고    scopus 로고
    • ISCEV standard for clinical visual evoked potentials (2009 update)
    • Odom JV, Bach M, Brigell M, et al. ISCEV standard for clinical visual evoked potentials (2009 update). Doc Ophthalmol. 2010;120:111-119.
    • (2010) Doc Ophthalmol , vol.120 , pp. 111-119
    • Odom, J.V.1    Bach, M.2    Brigell, M.3
  • 11
    • 77958455121 scopus 로고    scopus 로고
    • Generalized inherited retinal dystrophies
    • Reynolds JD, Olitsky S, eds Springer-Verlag Berlin Heidelberg
    • Khani SC, Fasiuddin A. Generalized Inherited Retinal Dystrophies. In: Reynolds JD, Olitsky S, eds. Pediatric Retina. Springer-Verlag Berlin Heidelberg; 2010.
    • (2010) Pediatric Retina
    • Khani, S.C.1    Fasiuddin, A.2
  • 14
    • 0024428117 scopus 로고
    • Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa
    • Fishman GA, Gilbert LD, Fiscella RG, et al. Acetazolamide for treatment of chronic macular edema in retinitis pigmentosa. Arch Ophthalmol. 1989;107:1445-1452.
    • (1989) Arch Ophthalmol , vol.107 , pp. 1445-1452
    • Fishman, G.A.1    Gilbert, L.D.2    Fiscella, R.G.3
  • 15
    • 67849095783 scopus 로고    scopus 로고
    • Artificial vision: Needs, functioning, and testing of a retinal electronic prosthesis
    • Chader GJ, Weiland J, Humayun MS. Artificial vision: needs, functioning, and testing of a retinal electronic prosthesis. Prog Brain Res. 2009;175:317-332.
    • (2009) Prog Brain Res , vol.175 , pp. 317-332
    • Chader, G.J.1    Weiland, J.2    Humayun, M.S.3
  • 16
    • 51249193206 scopus 로고
    • Über retinitis pigmentosa und angeborene amaurose
    • Leber T, Über retinitis pigmentosa und angeborene amaurose. Graefes Arch Clin Exp Ophthalmol. 1869;15:1-25.
    • (1869) Graefes Arch Clin Exp Ophthalmol , vol.15 , pp. 1-25
    • Leber, T.1
  • 17
    • 0024396667 scopus 로고
    • Bilateral macular colobomas in Leber's congenital amaurosis
    • Murayama K, Adachi-Usami E. Bilateral macular colobomas in Leber's congenital amaurosis. Doc Ophthalmol. 1989;72:181-188.
    • (1989) Doc Ophthalmol , vol.72 , pp. 181-188
    • Murayama, K.1    Adachi-Usami, E.2
  • 18
    • 0022005704 scopus 로고
    • High hyperopia in Leber's congenital amaurosis
    • Wagner RS, Caputo AR, Nelson LB, et al. High hyperopia in Leber's congenital amaurosis. Arch Ophthalmol. 1985;103:1507-1509.
    • (1985) Arch Ophthalmol , vol.103 , pp. 1507-1509
    • Wagner, R.S.1    Caputo, A.R.2    Nelson, L.B.3
  • 20
    • 48449085738 scopus 로고    scopus 로고
    • Leber congenital amaurosis: Genes, proteins and disease mechanisms
    • Den Hollander AI, Roepman R, Koenekoop R, et al. Leber congenital amaurosis: genes, proteins and disease mechanisms. Progress Retinal Eye Res. 2008;27:391-419.
    • (2008) Progress Retinal Eye Res , vol.27 , pp. 391-419
    • Den Hollander, A.I.1    Roepman, R.2    Koenekoop, R.3
  • 21
    • 44249120315 scopus 로고    scopus 로고
    • Effect of gene therapy on visual function in Leber's congenital amaurosis
    • Bainbridge JW, Smith AJ, Barker SS, et al. Effect of gene therapy on visual function in Leber's congenital amaurosis. N Engl J Med. 2008;358:2231-2239.
    • (2008) N Engl J Med , vol.358 , pp. 2231-2239
    • Bainbridge, J.W.1    Smith, A.J.2    Barker, S.S.3
  • 22
    • 44249085878 scopus 로고    scopus 로고
    • Safety and efficacy of gene transfer for Leber's congenital amaurosis
    • Maguire AM, Simonelli F, Pierce EA, et al. Safety and efficacy of gene transfer for Leber's congenital amaurosis. N Engl J Med. 2008;358:2240-2248.
    • (2008) N Engl J Med , vol.358 , pp. 2240-2248
    • Maguire, A.M.1    Simonelli, F.2    Pierce, E.A.3
  • 23
    • 54949104686 scopus 로고    scopus 로고
    • Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: Short-term results of a phase i trial
    • Hauswirth WW, Aleman TS, Kaushal S, et al. Treatment of Leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial. Human Gene Therapy. 2008; 19:979-990.
    • (2008) Human Gene Therapy , vol.19 , pp. 979-990
    • Hauswirth, W.W.1    Aleman, T.S.2    Kaushal, S.3
  • 24
    • 70349105559 scopus 로고    scopus 로고
    • Human RPE65 gene therapy for Leber congenital amaurosis: Persistence of early visual improvements and safety at 1 year
    • Cideciyan AV, Hauswirth WW, Aleman TS, et al. Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year. Hum Gene Ther. 2009;20:999-1004.
    • (2009) Hum Gene Ther , vol.20 , pp. 999-1004
    • Cideciyan, A.V.1    Hauswirth, W.W.2    Aleman, T.S.3
  • 26
  • 28
    • 1842608747 scopus 로고    scopus 로고
    • Red contact lenses for alleviation of photophobia in patients with cone disorders
    • Park WL, Sunness JS. Red contact lenses for alleviation of photophobia in patients with cone disorders. Am J Ophthalmol. 2004;137:774-775.
    • (2004) Am J Ophthalmol , vol.137 , pp. 774-775
    • Park, W.L.1    Sunness, J.S.2
  • 29
    • 73349142027 scopus 로고    scopus 로고
    • The natural history of Stargardt disease with specific sequence mutation in the ABCA4 gene
    • Genead MA, Fishman GA, Stone EM, et al. The natural history of Stargardt disease with specific sequence mutation in the ABCA4 gene. Invest Ophthalmol Vis Sci. 2009; 50:5867-5871.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 5867-5871
    • Genead, M.A.1    Fishman, G.A.2    Stone, E.M.3
  • 30
  • 31
    • 68349108001 scopus 로고    scopus 로고
    • A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease
    • Gomes NL, Greenstein VC, Carlson JN, et al. A comparison of fundus autofluorescence and retinal structure in patients with Stargardt disease. Invest Ophthalmol Vis Sci. 2009;50:3953-3959.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 3953-3959
    • Gomes, N.L.1    Greenstein, V.C.2    Carlson, J.N.3
  • 32
    • 12144289446 scopus 로고    scopus 로고
    • Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: A reappraisal of the human disease sequence
    • Cideciyan AV, Aleman TS, Swider M, et al. Mutations in ABCA4 result in accumulation of lipofuscin before slowing of the retinoid cycle: a reappraisal of the human disease sequence. Hum Mol Genet. 2004;13:525-534.
    • (2004) Hum Mol Genet , vol.13 , pp. 525-534
    • Cideciyan, A.V.1    Aleman, T.S.2    Swider, M.3
  • 33
    • 60549112570 scopus 로고    scopus 로고
    • ABCA4 disease progression and a proposed strategy for gene therapy
    • Cideciyan AV, Swider M, Aleman TS, et al. ABCA4 disease progression and a proposed strategy for gene therapy. Hum Mol Genet. 2009;18:931-941.
    • (2009) Hum Mol Genet , vol.18 , pp. 931-941
    • Cideciyan, A.V.1    Swider, M.2    Aleman, T.S.3
  • 34
    • 77649240582 scopus 로고    scopus 로고
    • Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene
    • Querques G, Zerbib J, Santacroce R, et al. Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene. Mol Vis. 2009;15:2960-2972.
    • (2009) Mol Vis , vol.15 , pp. 2960-2972
    • Querques, G.1    Zerbib, J.2    Santacroce, R.3
  • 35
    • 14244263812 scopus 로고    scopus 로고
    • Optical coherence tomography in Best's disease: An observational case report
    • Vedanthan V, Ramasamy K. Optical coherence tomography in Best's disease: an observational case report. Am J Ophthalmol. 2005;139:351-353.
    • (2005) Am J Ophthalmol , vol.139 , pp. 351-353
    • Vedanthan, V.1    Ramasamy, K.2
  • 36
    • 0345304309 scopus 로고    scopus 로고
    • Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in Best's disease
    • Andrade RE, Farah ME, Costa RA. Photodynamic therapy with verteporfin for subfoveal choroidal neovascularization in Best's disease. Am J Ophthalmol. 2003;136: 1179-1181.
    • (2003) Am J Ophthalmol , vol.136 , pp. 1179-1181
    • Andrade, R.E.1    Farah, M.E.2    Costa, R.A.3
  • 37
    • 77950530048 scopus 로고    scopus 로고
    • Bilateral juvenile choroidal neovascularization associated with Best's vitelliform dystrophy: Observation versus photodynamic therapy
    • Viola F, Villani E, Mapelli C, et al. Bilateral juvenile choroidal neovascularization associated with Best's vitelliform dystrophy: observation versus photodynamic therapy. J Pediatr Ophthalmol Strabismus. 2010;47:121-122.
    • (2010) J Pediatr Ophthalmol Strabismus , vol.47 , pp. 121-122
    • Viola, F.1    Villani, E.2    Mapelli, C.3
  • 38
    • 77949643973 scopus 로고    scopus 로고
    • Intravitreal bevacizumab for choroidal neovascular membrane with Best's vitelliform dystrophy
    • Rishi E, Rishi P, Mahajan S. Intravitreal bevacizumab for choroidal neovascular membrane with Best's vitelliform dystrophy. Indian J Ophthalmol. 2010;58:160-162.
    • (2010) Indian J Ophthalmol , vol.58 , pp. 160-162
    • Rishi, E.1    Rishi, P.2    Mahajan, S.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.