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Volumn 101, Issue 4, 2004, Pages 397-414

Hereditary retinochoroidal dystrophies. Part 2: Differential diagnosis;Hereditäre netzhaut-aderhaut-dystrophien. Teil 2: Differenzialdiagnose

Author keywords

Hereditary retinochoroidal dystrophies; Macular dystrophies; Molecular genetic diagnostic; Stationary inherited retinal dysfunction; Syndromes with retinochoroidal dystrophies

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; CHORIORETINOPATHY; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; ELECTROPHYSIOLOGY; HEREDITARY RETINOCHOROIDAL DYSTROPHY; HUMAN; INHERITANCE; MOLECULAR GENETICS; RETINA; RETINA GYRATE ATROPHY; RETINA MACULA DEGENERATION; RETINA ROD; RETINITIS PIGMENTOSA; RETINOSCHISIS; REVIEW; VITREORETINOPATHY;

EID: 2442698804     PISSN: 0941293X     EISSN: 14330423     Source Type: Journal    
DOI: 10.1007/s00347-003-0945-5     Document Type: Review
Times cited : (9)

References (31)
  • 2
    • 0033504787 scopus 로고    scopus 로고
    • Yearly rates of rod and cone functional loss in retinitis pigmetosa and cone-rod dystrophy
    • Birch DG, Anderson JL, Fish GE (1999) Yearly rates of rod and cone functional loss in retinitis pigmetosa and cone-rod dystrophy. Ophthalmology 106:258-268
    • (1999) Ophthalmology , vol.106 , pp. 258-268
    • Birch, D.G.1    Anderson, J.L.2    Fish, G.E.3
  • 3
    • 0035703655 scopus 로고    scopus 로고
    • Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4 (ABCR) gene
    • Birch DG, Peters AY, Locke KL et al. (2001) Visual function in patients with cone-rod dystrophy (CRD) associated with mutations in the ABCA4 (ABCR) gene. Exp Eye Res 73:877-886
    • (2001) Exp Eye Res , vol.73 , pp. 877-886
    • Birch, D.G.1    Peters, A.Y.2    Locke, K.L.3
  • 4
    • 0037334790 scopus 로고    scopus 로고
    • Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3
    • Cideciyan AV, Jacobson SG, Gupta N et al. (2003) Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. Invest Ophthalmol Vis Sci 44:1268-1274
    • (2003) Invest Ophthalmol Vis Sci , vol.44 , pp. 1268-1274
    • Cideciyan, A.V.1    Jacobson, S.G.2    Gupta, N.3
  • 6
    • 0006912819 scopus 로고    scopus 로고
    • Macular dystrophies
    • Ryan SJ (ed), 3rd edn. Mosby, St. Louis
    • Deutman AF, Hoyng CB (2001) Macular dystrophies. In: Ryan SJ (ed) Retina, Vol 2, 3rd edn. Mosby, St. Louis, pp 1210-1257
    • (2001) Retina , vol.2 , pp. 1210-1257
    • Deutman, A.F.1    Hoyng, C.B.2
  • 7
    • 0033744611 scopus 로고    scopus 로고
    • Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture
    • Dryja TP (2000) Molecular genetics of Oguchi disease, fundus albipunctatus, and other forms of stationary night blindness: LVII Edward Jackson Memorial Lecture. Am J Ophthalmol 130:547-563
    • (2000) Am J Ophthalmol , vol.130 , pp. 547-563
    • Dryja, T.P.1
  • 8
    • 0012375705 scopus 로고    scopus 로고
    • Hereditary vitreoretinal degenerations
    • Ryan SJ (ed), 3rd edn. Mosby, St. Louis
    • Edwards AD, Roberston JE (2001) Hereditary vitreoretinal degenerations. In: Ryan SJ (ed) Retina, Vol 1, 3rd edn. Mosby, St. Louis, pp 482-498
    • (2001) Retina , vol.1 , pp. 482-498
    • Edwards, A.D.1    Roberston, J.E.2
  • 11
    • 0031014526 scopus 로고    scopus 로고
    • Usher syndrome in the city of Birmingham - Prevalence and clinical classification
    • Hope CI, Bundey S, Proops D, Fielder AR (1997) Usher syndrome in the city of Birmingham - prevalence and clinical classification. Br J Ophthalmol 81:46-53
    • (1997) Br J Ophthalmol , vol.81 , pp. 46-53
    • Hope, C.I.1    Bundey, S.2    Proops, D.3    Fielder, A.R.4
  • 14
    • 0030341627 scopus 로고    scopus 로고
    • Phänokopien hereditärer netzhautdegenerationen
    • Kellner U, Helbig H, Foerster MH (1996) Phänokopien hereditärer Netzhautdegenerationen. Ophthalmologe 93:680-687
    • (1996) Ophthalmologe , vol.93 , pp. 680-687
    • Kellner, U.1    Helbig, H.2    Foerster, M.H.3
  • 15
    • 1642349264 scopus 로고    scopus 로고
    • Hereditäre netzhaut-aderhautdystrophien
    • Kellner U, Tillack H, Renner AB (2004) Hereditäre Netzhaut-Aderhautdystrophien. Ophthalmologe 101:307-320
    • (2004) Ophthalmologe , vol.101 , pp. 307-320
    • Kellner, U.1    Tillack, H.2    Renner, A.B.3
  • 16
    • 0037656046 scopus 로고    scopus 로고
    • The gene for Stargardt disease ABCA4, is a major retinal gene: A mini review
    • Koenekoop RK (2003) The gene for Stargardt disease, ABCA4, is a major retinal gene: a mini review. Ophthalm Genet 24:75-80
    • (2003) Ophthalm Genet , vol.24 , pp. 75-80
    • Koenekoop, R.K.1
  • 17
    • 0042285481 scopus 로고    scopus 로고
    • Bardet-Biedl syndrome and Usher syndrome
    • Koenig E (2003) Bardet-Biedl syndrome and Usher syndrome. Dev Ophthalmol 37:126-140
    • (2003) Dev Ophthalmol , vol.37 , pp. 126-140
    • Koenig, E.1
  • 18
    • 0034860167 scopus 로고    scopus 로고
    • Clincial and electrophysiological finindgs in autosomal dominant vitreoretinochoroidopathy: Report of a new pedigree
    • Lafaut BA, Loeys B, Leroy BP et al. (2001) Clincial and electrophysiological finindgs in autosomal dominant vitreoretinochoroidopathy: report of a new pedigree. Graefe Arch Clin Exp Ophthalmol 239:575-582
    • (2001) Graefe Arch Clin Exp Ophthalmol , vol.239 , pp. 575-582
    • Lafaut, B.A.1    Loeys, B.2    Leroy, B.P.3
  • 19
    • 0029781852 scopus 로고    scopus 로고
    • Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula
    • Marmor MF, McNamara JA (1996) Pattern dystrophy of the retinal pigment epithelium and geographic atrophy of the macula. Am J Ophthalmol 122:382-392
    • (1996) Am J Ophthalmol , vol.122 , pp. 382-392
    • Marmor, M.F.1    McNamara, J.A.2
  • 20
    • 0346562868 scopus 로고    scopus 로고
    • Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation
    • Nishiguchi KM, Sandberg MA, Kooijman AC et al. (2004) Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature 427:75-78
    • (2004) Nature , vol.427 , pp. 75-78
    • Nishiguchi, K.M.1    Sandberg, M.A.2    Kooijman, A.C.3
  • 21
    • 0035078026 scopus 로고    scopus 로고
    • Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase
    • Peltola KE, Nanto-Salonen K, Heinonen OJ et al. (2001) Ophthalmologic heterogeneity in subjects with gyrate atrophy of choroid and retina harboring the L402P mutation of ornithine aminotransferase. Ophthalmology 108:721-729
    • (2001) Ophthalmology , vol.108 , pp. 721-729
    • Peltola, K.E.1    Nanto-Salonen, K.2    Heinonen, O.J.3
  • 22
    • 0033368589 scopus 로고    scopus 로고
    • Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene
    • Ponjavic V, Eksandh L, Andreasson S et al. (1999) Clinical expression of Best's vitelliform macular dystrophy in Swedish families with mutations in the bestrophin gene. Ophthalmic Genet 20:251-257
    • (1999) Ophthalmic Genet , vol.20 , pp. 251-257
    • Ponjavic, V.1    Eksandh, L.2    Andreasson, S.3
  • 25
    • 0037095736 scopus 로고    scopus 로고
    • Retinitis pigmentosa and allied diseases: Numerous diseases, genes, and inheritance patterns
    • Rivolta C, Sharon D, DeAngelis MM, Dryja TP (2002) Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet 15:1219-1227
    • (2002) Hum Mol Genet , vol.15 , pp. 1219-1227
    • Rivolta, C.1    Sharon, D.2    DeAngelis, M.M.3    Dryja, T.P.4
  • 26
    • 0036282588 scopus 로고    scopus 로고
    • Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideremia
    • Roberts MF, Fishman GA, Roberts DK et al. (2002) Retrospective, longitudinal, and cross sectional study of visual acuity impairment in choroideremia. Br J Ophthalmol 86:658-662
    • (2002) Br J Ophthalmol , vol.86 , pp. 658-662
    • Roberts, M.F.1    Fishman, G.A.2    Roberts, D.K.3
  • 27
    • 0038321461 scopus 로고    scopus 로고
    • Visual acuity loss and clinical observations in a large series of patients with Stargardt disease
    • Rotenstreich Y, Fishman GA, Anderson RJ (2003) Visual acuity loss and clinical observations in a large series of patients with Stargardt disease. Ophthalmology 110:1151-1158
    • (2003) Ophthalmology , vol.110 , pp. 1151-1158
    • Rotenstreich, Y.1    Fishman, G.A.2    Anderson, R.J.3
  • 28
    • 0009874613 scopus 로고    scopus 로고
    • Pigmentary retinopathy and systemic disease
    • Traboulsi El (ed). Oxford University Press, Oxford
    • Traboulsi EI, Drack, AV, Salama H (1998) Pigmentary retinopathy and systemic disease. In Traboulsi El (ed) Genetic diseases of the eye. Oxford University Press, Oxford, pp 629-662
    • (1998) Genetic Diseases of the Eye , pp. 629-662
    • Traboulsi, E.I.1    Drack, A.V.2    Salama, H.3
  • 29
    • 0036068117 scopus 로고    scopus 로고
    • Infantile and childhood retinal blindness: A molecular perspective (the Francesschetti Lecture)
    • Weleber RG (2002) Infantile and childhood retinal blindness: a molecular perspective (The Francesschetti Lecture). Ophthalmic Genet 23:71-97
    • (2002) Ophthalmic Genet , vol.23 , pp. 71-97
    • Weleber, R.G.1
  • 30
    • 0037925829 scopus 로고    scopus 로고
    • Retinitis pigmentosa and allied disorders
    • Ryan SJ (ed), 3rd edn, Mosby, St. Louis
    • Weleber RG, Gregory-Evans K (2001) Retinitis pigmentosa and allied disorders. In: Ryan SJ (ed), Retina, Vol. 1, 3rd edn, Mosby, St. Louis, pp 362-460
    • (2001) Retina , vol.1 , pp. 362-460
    • Weleber, R.G.1    Gregory-Evans, K.2
  • 31
    • 0036316242 scopus 로고    scopus 로고
    • Refsum's disease: A peroxisomal disorder affecting phytanic acid alpha-oxidation
    • Wierzbicki AS, Lloyd MD, Schofield CJ et al. (2002) Refsum's disease: a peroxisomal disorder affecting phytanic acid alpha-oxidation. J Neurochem 80:727-735
    • (2002) J Neurochem , vol.80 , pp. 727-735
    • Wierzbicki, A.S.1    Lloyd, M.D.2    Schofield, C.J.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.