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Volumn 32, Issue 6, 2012, Pages 1135-1147

Clinical characteristics of occult macular dystrophy in family with mutation of rp1l1 gene

Author keywords

electroretinography; focal macular ERG; multifocal ERG; occult macular dystrophy; optical coherence tomography; RP1L1

Indexed keywords

FLUORESCEIN;

EID: 84861822481     PISSN: 0275004X     EISSN: 15392864     Source Type: Journal    
DOI: 10.1097/IAE.0b013e318232c32e     Document Type: Article
Times cited : (54)

References (28)
  • 1
    • 0024441520 scopus 로고
    • Hereditary mac-ular dystrophy without visible fundus abnormality
    • Miyake Y, Ichikawa K, Shiose Y, Kawase Y. Hereditary mac-ular dystrophy without visible fundus abnormality. Am J Oph-thalmol 1989;108:292-299.
    • (1989) Am J Oph-thalmol , vol.108 , pp. 292-299
    • Miyake, Y.1    Ichikawa, K.2    Shiose, Y.3    Kawase, Y.4
  • 3
    • 0032782473 scopus 로고    scopus 로고
    • Multifocal electroreti-nography in patients with occult macular dystrophy
    • Fujii S, Escano MF, Ishibashi K, et al. Multifocal electroreti-nography in patients with occult macular dystrophy. Br J Oph-thalmol 1999;83:879-880.
    • (1999) Br J Oph-thalmol , vol.83 , pp. 879-880
    • Fujii, S.1    Escano, M.F.2    Ishibashi, K.3
  • 4
    • 0033950449 scopus 로고    scopus 로고
    • Multifocal electroreti-nogram in occult macular dystrophy
    • Piao CH, Kondo M, Tanikawa A, et al. Multifocal electroreti-nogram in occult macular dystrophy. Invest Ophthalmol Vis Sci 2000;41:513-517.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 513-517
    • Piao, C.H.1    Kondo, M.2    Tanikawa, A.3
  • 5
    • 0037353523 scopus 로고    scopus 로고
    • Multifocal electro-retinogram (mfERG) in a family with occult macular dystrophy (OMD)
    • Wildberger H, Niemeyer G, Junghardt A. Multifocal electro-retinogram (mfERG) in a family with occult macular dystrophy (OMD). Klin Monatsbl Augenheilkd 2003;220:111-115.
    • (2003) Klin Monatsbl Augenheilkd , vol.220 , pp. 111-115
    • Wildberger, H.1    Niemeyer, G.2    Junghardt, A.3
  • 6
    • 0037404177 scopus 로고    scopus 로고
    • Foveal thickness in occult macular dystrophy
    • Kondo M, Ito Y, Ueno S, et al. Foveal thickness in occult macular dystrophy. Am J Ophthalmol 2003;135:725-728.
    • (2003) Am J Ophthalmol , vol.135 , pp. 725-728
    • Kondo, M.1    Ito, Y.2    Ueno, S.3
  • 7
    • 33847073075 scopus 로고    scopus 로고
    • Optical coherence tomography findings in occult macular dystrophy
    • Brockhurst RJ, Sandberg MA. Optical coherence tomography findings in occult macular dystrophy. Am J Ophthalmol 2007; 143:516-518.
    • (2007) Am J Ophthalmol , vol.143 , pp. 516-518
    • Brockhurst, R.J.1    Sandberg, M.A.2
  • 8
    • 64849097551 scopus 로고    scopus 로고
    • Spectral domain optical coherence tomographic findings of occult macular dystrophy
    • Koizumi H, Maguire JI, Spaide RF. Spectral domain optical coherence tomographic findings of occult macular dystrophy. Ophthalmic Surg Lasers Imaging 2009;40:174-176.
    • (2009) Ophthalmic Surg Lasers Imaging , vol.40 , pp. 174-176
    • Koizumi, H.1    Maguire, J.I.2    Spaide, R.F.3
  • 9
    • 39549111232 scopus 로고    scopus 로고
    • A 43-year-old man with reduced visual acuity and normal fundus: Occult macular dystrophy\case report
    • Lubinski W, Goslawski W, Penkala K, et al. A 43-year-old man with reduced visual acuity and normal fundus: occult macular dystrophy\case report. Doc Ophthalmol 2008;116:111-118.
    • (2008) Doc Ophthalmol , vol.116 , pp. 111-118
    • Lubinski, W.1    Goslawski, W.2    Penkala, K.3
  • 10
    • 77955879295 scopus 로고    scopus 로고
    • Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography
    • Park SJ, Woo SJ, Park KH, et al. Morphologic photoreceptor abnormality in occult macular dystrophy on spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci 2010;51:3673-3679.
    • (2010) Invest Ophthalmol Vis Sci , vol.51 , pp. 3673-3679
    • Park, S.J.1    Woo, S.J.2    Park, K.H.3
  • 11
    • 80051572013 scopus 로고    scopus 로고
    • Selective abnormality of cone outer segment tip line in acute zonal occult outer retinop-athy as observed by Spectral domain optical coherence tomography
    • Tsunoda K, Fujinami K, Miyake Y. Selective abnormality of cone outer segment tip line in acute zonal occult outer retinop-athy as observed by Spectral domain optical coherence tomography. Arch Ophthalmol 2011;129:1099-1101.
    • (2011) Arch Ophthalmol , vol.129 , pp. 1099-1101
    • Tsunoda, K.1    Fujinami, K.2    Miyake, Y.3
  • 12
    • 77956389326 scopus 로고    scopus 로고
    • Dominant mutations in RP1L1 are responsible for occult macular dystrophy
    • Akahori M, Tsunoda K, Miyake Y, et al. Dominant mutations in RP1L1 are responsible for occult macular dystrophy. Am J Hum Genet 2010;87:424-429.
    • (2010) Am J Hum Genet , vol.87 , pp. 424-429
    • Akahori, M.1    Tsunoda, K.2    Miyake, Y.3
  • 13
    • 0037300298 scopus 로고    scopus 로고
    • Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): A novel candidate for retinal degenerations
    • Conte I, Lestingi M, den Hollander A, et al. Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Eur J Hum Genet 2003;11:155-162.
    • (2003) Eur J Hum Genet , vol.11 , pp. 155-162
    • Conte, I.1    Lestingi, M.2    Den Hollander, A.3
  • 14
    • 0038784010 scopus 로고    scopus 로고
    • Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmen-tosa 1 (RP1) gene
    • Bowne SJ, Daiger SP, Malone KA, et al. Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmen-tosa 1 (RP1) gene. Mol Vis 2003;9:129-137.
    • (2003) Mol Vis , vol.9 , pp. 129-137
    • Bowne, S.J.1    Daiger, S.P.2    Malone, K.A.3
  • 15
    • 0033031796 scopus 로고    scopus 로고
    • Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa
    • Pierce EA, Quinn T, Meehan T, et al. Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. Nat Genet 1999;22: 248-254.
    • (1999) Nat Genet , vol.22 , pp. 248-254
    • Pierce, E.A.1    Quinn, T.2    Meehan, T.3
  • 16
    • 0032989251 scopus 로고    scopus 로고
    • Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa
    • Sullivan LS, Heckenlively JR, Bowne SJ, et al. Mutations in a novel retina-specific gene cause autosomal dominant retinitis pigmentosa. Nat Genet 1999;22:255-259.
    • (1999) Nat Genet , vol.22 , pp. 255-259
    • Sullivan, L.S.1    Heckenlively, J.R.2    Bowne, S.J.3
  • 17
    • 0034094531 scopus 로고    scopus 로고
    • Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa
    • Jacobson SG, Cideciyan AV, Iannaccone A, et al. Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa. Invest Ophthalmol Vis Sci 2000;41: 1898-1908.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1898-1908
    • Jacobson, S.G.1    Cideciyan, A.V.2    Iannaccone, A.3
  • 18
    • 68549140402 scopus 로고    scopus 로고
    • Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa
    • Yamashita T, Liu J, Gao J, et al. Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. J Neurosci 2009;29:9748-9760.
    • (2009) J Neurosci , vol.29 , pp. 9748-9760
    • Yamashita, T.1    Liu, J.2    Gao, J.3
  • 19
    • 33644513436 scopus 로고    scopus 로고
    • Non-familial occult macular dystrophy
    • Lyons JS. Non-familial occult macular dystrophy. Doc Oph-thalmol 2005;111:49-56.
    • (2005) Doc Oph-thalmol , vol.111 , pp. 49-56
    • Lyons, J.S.1
  • 20
    • 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). Docu-menta Ophthalmologica 2009;118:69-77.
    • (2009) Docu-menta Ophthalmologica , vol.118 , pp. 69-77
    • Marmor, M.F.1    Fulton, A.B.2    Holder, G.E.3
  • 21
    • 38649123067 scopus 로고    scopus 로고
    • ISCEV guidelines for clinical multifocal electroretinography (2007 edition)
    • Hood DC, Bach M, Brigell M, et al. ISCEV guidelines for clinical multifocal electroretinography (2007 edition). Docu-menta Ophthalmologica 2008;116:1-11.
    • (2008) Docu-menta Ophthalmologica , vol.116 , pp. 1-11
    • Hood, D.C.1    Bach, M.2    Brigell, M.3
  • 22
    • 0347480443 scopus 로고    scopus 로고
    • ERG rod a-wave in Oguchi disease
    • Usui T, Tanimoto N, Ueki S, et al. ERG rod a-wave in Oguchi disease. Vision Research 2004;44:535-540.
    • (2004) Vision Research , vol.44 , pp. 535-540
    • Usui, T.1    Tanimoto, N.2    Ueki, S.3
  • 23
    • 45549090024 scopus 로고    scopus 로고
    • Characterization of outer retinal morphology with high-speed, ultra-high-resolution optical coherence tomography
    • Srinivasan VJ, Monson BK, Wojtkowski M, et al. Characterization of outer retinal morphology with high-speed, ultra-high-resolution optical coherence tomography. Invest Ophthalmol Vis Sci 2008;49:1571-1579.
    • (2008) Invest Ophthalmol Vis Sci , vol.49 , pp. 1571-1579
    • Srinivasan, V.J.1    Monson, B.K.2    Wojtkowski, M.3
  • 25
    • 0037404171 scopus 로고    scopus 로고
    • A case of occult macular dystrophy accompanying normal-tension glaucoma
    • Nakamura M, Kanamori A, Seya R, et al. A case of occult macular dystrophy accompanying normal-tension glaucoma. Am J Ophthalmol 2003;135:715-717.
    • (2003) Am J Ophthalmol , vol.135 , pp. 715-717
    • Nakamura, M.1    Kanamori, A.2    Seya, R.3
  • 27
    • 47849128986 scopus 로고    scopus 로고
    • Ultrahigh resolution optical coherence tomography and pancorrection for cellular imaging of the living human retina
    • Fernandez EJ, Hermann B, Povazay B, et al. Ultrahigh resolution optical coherence tomography and pancorrection for cellular imaging of the living human retina. Opt Express 2008;16: 11083-11094.
    • (2008) Opt Express , vol.16 , pp. 11083-11094
    • Fernandez, E.J.1    Hermann, B.2    Povazay, B.3
  • 28
    • 79955771456 scopus 로고    scopus 로고
    • Fundus autofluor-escence in autosomal dominant occult macular dystrophy
    • Fujinami K, Tsunoda K, Hanazono G, et al. Fundus autofluor-escence in autosomal dominant occult macular dystrophy. Arch Ophthalmol 2011;129:579-602.
    • (2011) Arch Ophthalmol , vol.129 , pp. 579-602
    • Fujinami, K.1    Tsunoda, K.2    Hanazono, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.