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Volumn 15, Issue 4, 2002, Pages 459-465

Genetics update of macular diseases

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL RECESSIVE INHERITANCE; DRUSEN; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; GENOTYPE PHENOTYPE CORRELATION; HUMAN; NONHUMAN; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RETINA MACULA AGE RELATED DEGENERATION; RETINA MACULA VITELLIFORM DEGENERATION; RETINA MACULOPATHY; RETINA MALFORMATION; REVIEW; STARGARDT DISEASE;

EID: 0036951607     PISSN: 08961549     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0896-1549(02)00045-7     Document Type: Review
Times cited : (4)

References (54)
  • 1
    • 0019943207 scopus 로고
    • A histopathologic study of Best's macular dystrophy
    • Frangieh GT, Green WR, Fine SL. A histopathologic study of Best's macular dystrophy. Arch Ophthalmol 1982;100:1115-21.
    • (1982) Arch Ophthalmol , vol.100 , pp. 1115-1121
    • Frangieh, G.T.1    Green, W.R.2    Fine, S.L.3
  • 3
    • 0026662677 scopus 로고
    • The gene for Best's macular dystrophy is located at 11q13 in a Swedish family
    • Forsman K, Graff C, Nordstrom S, et al. The gene for Best's macular dystrophy is located at 11q13 in a Swedish family. Clin Genet 1992;42:156-9.
    • (1992) Clin Genet , vol.42 , pp. 156-159
    • Forsman, K.1    Graff, C.2    Nordstrom, S.3
  • 4
    • 0026895234 scopus 로고
    • Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13
    • Stone EM, Nichols BE, Streb LM, et al. Genetic linkage of vitelliform macular degeneration (Best's disease) to chromosome 11q13. Nat Genet 1992;1:246-50.
    • (1992) Nat Genet , vol.1 , pp. 246-250
    • Stone, E.M.1    Nichols, B.E.2    Streb, L.M.3
  • 5
    • 0031709885 scopus 로고    scopus 로고
    • Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)
    • Marquardt A, Stohr H, Passmore LA, et al. Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet 1998;7(9):1517-25.
    • (1998) Hum Mol Genet , vol.7 , Issue.9 , pp. 1517-1525
    • Marquardt, A.1    Stohr, H.2    Passmore, L.A.3
  • 6
    • 17344364275 scopus 로고    scopus 로고
    • Identification of the gene responsible for Best macular dystrophy
    • Petrukhin K, Koisiti MJ, Bakall B, et al. Identification of the gene responsible for Best macular dystrophy. Nat Genet 1998;19:241-7.
    • (1998) Nat Genet , vol.19 , pp. 241-247
    • Petrukhin, K.1    Koisiti, M.J.2    Bakall, B.3
  • 7
    • 0033739625 scopus 로고    scopus 로고
    • Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium
    • Marmorstein AD, Marmorstein LY, Rayborn M, et al. Bestrophin, the product of the Best vitelliform macular dystrophy gene (VMD2), localizes to the basolateral plasma membrane of the retinal pigment epithelium. Proc Natl Acad Sci U S A 2000;97:12758-63.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 12758-12763
    • Marmorstein, A.D.1    Marmorstein, L.Y.2    Rayborn, M.3
  • 8
    • 20244378502 scopus 로고    scopus 로고
    • Allelic variation in the VMD2 gene in Best disease and age-related macular degeneration
    • Lotery AJ, Munier FL, Fishman GA, et al. Allelic variation in the VMD2 gene in Best disease and age-related macular degeneration. Invest Ophthalmol Vis Sci 2000;41:1291-6.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 1291-1296
    • Lotery, A.J.1    Munier, F.L.2    Fishman, G.A.3
  • 9
    • 0001024728 scopus 로고    scopus 로고
    • Heredodystrophic disorders affecting the pigment epithelium and retina
    • St Louis: CV Mosby
    • th Edition. St Louis: CV Mosby; 1997.p. 303-435.
    • (1997) th Edition , pp. 303-435
    • Gass, I.1
  • 10
    • 0027528652 scopus 로고
    • A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens
    • Kajiwara K, Sandberg MA, Berson EL, Dryja TP. A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens. Nat Genet 1993;3:208-12.
    • (1993) Nat Genet , vol.3 , pp. 208-212
    • Kajiwara, K.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 11
    • 0027401094 scopus 로고
    • Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene
    • Nichols BE, Sheffield VC, Vandenburgh K, et al. Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene. Nat Genet 1993;3:202-7.
    • (1993) Nat Genet , vol.3 , pp. 202-207
    • Nichols, B.E.1    Sheffield, V.C.2    Vandenburgh, K.3
  • 12
    • 0027447531 scopus 로고
    • Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy
    • Wells J, Wroblewski J, Keen J, et al. Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy. Nat Genet 1993;3:213-8.
    • (1993) Nat Genet , vol.3 , pp. 213-218
    • Wells, J.1    Wroblewski, J.2    Keen, J.3
  • 13
    • 0025721075 scopus 로고
    • A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa
    • Farrar JG, Kenna P, Jordan SA, et al. A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa. Nature 1991;354:478-80.
    • (1991) Nature , vol.354 , pp. 478-480
    • Farrar, J.G.1    Kenna, P.2    Jordan, S.A.3
  • 14
    • 0025720710 scopus 로고
    • Mutation in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa
    • Kajiwara K, Hahn LB, Mukai S, et al. Mutation in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa. Nature 1991;354: 478-80.
    • (1991) Nature , vol.354 , pp. 478-480
    • Kajiwara, K.1    Hahn, L.B.2    Mukai, S.3
  • 15
    • 0025371311 scopus 로고
    • Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane
    • Connell GJ, Molday RS. Molecular cloning, primary structure, and orientation of the vertebrate photoreceptor cell protein peripherin in the rod outer segment disk membrane. Biochemistry 1990;29:4691-8.
    • (1990) Biochemistry , vol.29 , pp. 4691-4698
    • Connell, G.J.1    Molday, R.S.2
  • 16
    • 0028245437 scopus 로고
    • Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROMI loci
    • Kaijiwara K, Berson EL, Dryja TP. Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROMI loci. Science 1994;264:1604-8.
    • (1994) Science , vol.264 , pp. 1604-1608
    • Kaijiwara, K.1    Berson, E.L.2    Dryja, T.P.3
  • 17
    • 0035475141 scopus 로고    scopus 로고
    • Molecular genetics of age-related macular degeneration
    • Stone EM, Sheffield VC, Hageman GS. Molecular genetics of age-related macular degeneration. Hum Mol Genet 2001;10:2285-92.
    • (2001) Hum Mol Genet , vol.10 , pp. 2285-2292
    • Stone, E.M.1    Sheffield, V.C.2    Hageman, G.S.3
  • 18
    • 0027434085 scopus 로고
    • Phenotypic variation including retinitis pigmentosa, pattern dystrophy, and fundus flavimaculatus in a single family with a deletion of codon 153 and 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 and 154 of the peripherin/rds gene. Arch Ophthalmol 1993;111:1531-42.
    • (1993) Arch Ophthalmol , vol.111 , pp. 1531-1542
    • Weleber, R.G.1    Carr, R.E.2    Murphey, W.H.3
  • 19
    • 0022924342 scopus 로고
    • Stargardt's disease and fundus flavimaculatus: Evaluation ofmorphologic progression and intrafamilial co-existence
    • Aaberg TM. Stargardt's disease and fundus flavimaculatus: Evaluation ofmorphologic progression and intrafamilial co-existence. Trans Am Ophthalmol Soc 1986;84:453-87.
    • (1986) Trans Am Ophthalmol Soc , vol.84 , pp. 453-487
    • Aaberg, T.M.1
  • 20
    • 0032859293 scopus 로고    scopus 로고
    • Intrafamilial variation of phenotype in Stargardt macular dystrophy-fundus flavimaculatus
    • Lois N, Holder GE, Fitzke FW, Plant C, Bird AC. Intrafamilial variation of phenotype in Stargardt macular dystrophy-fundus flavimaculatus. Invest Ophthalmol Vis Sci 1999;40:2668-75.
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 2668-2675
    • Lois, N.1    Holder, G.E.2    Fitzke, F.W.3    Plant, C.4    Bird, A.C.5
  • 21
    • 0032900958 scopus 로고    scopus 로고
    • Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene
    • Fishman GA, Stone EM, Grover S, et al. Variation of clinical expression in patients with Stargardt dystrophy and sequence variations in the ABCR gene. Arch Ophthalmol 1999;117:504-10.
    • (1999) Arch Ophthalmol , vol.117 , pp. 504-510
    • Fishman, G.A.1    Stone, E.M.2    Grover, S.3
  • 22
    • 0035092144 scopus 로고    scopus 로고
    • Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus
    • Lois N, Holder GE, Bunce C, et al. Phenotypic subtypes of Stargardt macular dystrophy-fundus flavimaculatus. Arch Ophthalmol 2001;119:359-69.
    • (2001) Arch Ophthalmol , vol.119 , pp. 359-369
    • Lois, N.1    Holder, G.E.2    Bunce, C.3
  • 23
    • 0023252063 scopus 로고
    • Visual acuity loss in patients with Stargardt's macular dystrophy
    • Fishman GA, Farber M, Patel BS, et al. Visual acuity loss in patients with Stargardt's macular dystrophy. Ophthalmology 1987;94:809-14.
    • (1987) Ophthalmology , vol.94 , pp. 809-814
    • Fishman, G.A.1    Farber, M.2    Patel, B.S.3
  • 24
    • 0027372405 scopus 로고
    • A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1
    • Kaplan J, Gerber S, Larget-Piet D, et al. A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1. Nat Genet 1993;5: 308-11.
    • (1993) Nat Genet , vol.5 , pp. 308-311
    • Kaplan, J.1    Gerber, S.2    Larget-Piet, D.3
  • 25
    • 0031037951 scopus 로고    scopus 로고
    • A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy
    • Allikmets R, Singh N, Sun H, et al. A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. Nat Genet 1997;15:236-46.
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Allikmets, R.1    Singh, N.2    Sun, H.3
  • 26
    • 0033936893 scopus 로고    scopus 로고
    • ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy
    • Molday LL, Rabin AR, Molday RS. ABCR expression in foveal cone photoreceptors and its role in Stargardt macular dystrophy. Nat Genet 2000;25:257-8.
    • (2000) Nat Genet , vol.25 , pp. 257-258
    • Molday, L.L.1    Rabin, A.R.2    Molday, R.S.3
  • 27
    • 20244363660 scopus 로고    scopus 로고
    • Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments
    • Sun H, Nathans J. Stargardt's ABCR is localized to the disc membrane of retinal rod outer segments. Nat Genet 1997;15:236-46.
    • (1997) Nat Genet , vol.15 , pp. 236-246
    • Sun, H.1    Nathans, J.2
  • 28
    • 0000761427 scopus 로고    scopus 로고
    • Retinal stimulates ATP hydrolysis by purified reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease
    • Sun H, Molday RS, Nathans J. Retinal stimulates ATP hydrolysis by purified reconstituted ABCR, the photoreceptor-specific ATP-binding cassette transporter responsible for Stargardt disease. J Biol Chem 1999; 274:8269-81.
    • (1999) J Biol Chem , vol.274 , pp. 8269-8281
    • Sun, H.1    Molday, R.S.2    Nathans, J.3
  • 29
    • 0033538438 scopus 로고    scopus 로고
    • Insights into the function of rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in ABCR knockout mice
    • Weng J, Mata NL, Azarian SM, et al. Insights into the function of rim protein in photoreceptors and etiology of Stargardt's disease from the phenotype in ABCR knockout mice. Cell 1999;98:13-23.
    • (1999) Cell , vol.98 , pp. 13-23
    • Weng, J.1    Mata, N.L.2    Azarian, S.M.3
  • 30
    • 0034691089 scopus 로고    scopus 로고
    • Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration
    • Mata NL, Weng J, Travis GH. Biosynthesis of a major lipofuscin fluorophore in mice and humans with ABCR-mediated retinal and macular degeneration. Proc Natl Acad Sci U S A 2000;97:7154-9.
    • (2000) Proc Natl Acad Sci U S A , vol.97 , pp. 7154-7159
    • Mata, N.L.1    Weng, J.2    Travis, G.H.3
  • 31
    • 0012119330 scopus 로고    scopus 로고
    • Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • Allikmets R, Shroyer NG, Singh N, et al. Mutation of the Stargardt disease gene (ABCR) in age-related macular degeneration. Science 1997;277:1805-7.
    • (1997) Science , vol.277 , pp. 1805-1807
    • Allikmets, R.1    Shroyer, N.G.2    Singh, N.3
  • 32
    • 12944255842 scopus 로고    scopus 로고
    • Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration
    • De La Paz MA, Guy VK, Abou-Donia S, et al. Analysis of the Stargardt disease gene (ABCR) in age-related macular degeneration. Ophthalmology 1999; 106:1531-6.
    • (1999) Ophthalmology , vol.106 , pp. 1531-1536
    • De La Paz, M.A.1    Guy, V.K.2    Abou-Donia, S.3
  • 33
    • 0031795853 scopus 로고    scopus 로고
    • Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration
    • Stone EM, Webster AR, Vandenburgh K, et al. Allelic variation in ABCR associated with Stargardt disease but not age-related macular degeneration. Nat Genet 1998;20:328-9.
    • (1998) Nat Genet , vol.20 , pp. 328-329
    • Stone, E.M.1    Webster, A.R.2    Vandenburgh, K.3
  • 34
    • 0034702032 scopus 로고    scopus 로고
    • A full genome scan for age-related maculopathy
    • Weeks DE, Conley YP, Mah TS, et al. A full genome scan for age-related maculopathy. Hum Mol Genet 2000;9:1329-49.
    • (2000) Hum Mol Genet , vol.9 , pp. 1329-1349
    • Weeks, D.E.1    Conley, Y.P.2    Mah, T.S.3
  • 35
    • 0035024249 scopus 로고    scopus 로고
    • Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration
    • Guymer RH, Heon E, Lotery AJ, et al. Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration. Arch Ophthalmol 2001;119:745-51.
    • (2001) Arch Ophthalmol , vol.119 , pp. 745-751
    • Guymer, R.H.1    Heon, E.2    Lotery, A.J.3
  • 37
    • 0014108191 scopus 로고
    • Fundus flavimaculatus. Clinical, functional and histopathologic observations
    • Klein BA, Krill AE. Fundus flavimaculatus. Clinical, functional and histopathologic observations. Am J Ophthalmol 1967;64:3-23.
    • (1967) Am J Ophthalmol , vol.64 , pp. 3-23
    • Klein, B.A.1    Krill, A.E.2
  • 38
    • 0018951516 scopus 로고
    • Dominantly inherited macular dystrophy with flecks (Stargardt)
    • Cibis GW, Morey M, Harris DJ. Dominantly inherited macular dystrophy with flecks (Stargardt). Arch Ophthalmol 1980;98:1785-9.
    • (1980) Arch Ophthalmol , vol.98 , pp. 1785-1789
    • Cibis, G.W.1    Morey, M.2    Harris, D.J.3
  • 39
    • 0034812114 scopus 로고    scopus 로고
    • Autosomal dominant Stargardt-like macular dystrophy
    • Donoso LA, Edwards AO, Frost A, et al. Autosomal dominant Stargardt-like macular dystrophy. Survey 2001;46:149-63.
    • (2001) Survey , vol.46 , pp. 149-163
    • Donoso, L.A.1    Edwards, A.O.2    Frost, A.3
  • 40
    • 0028309553 scopus 로고
    • Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6
    • Stone EM, Nichols BE, Kimura AE, et al. Clinical features of a Stargardt-like dominant progressive macular dystrophy with genetic linkage to chromosome 6. Arch Ophthalmol 1994;112:765-72.
    • (1994) Arch Ophthalmol , vol.112 , pp. 765-772
    • Stone, E.M.1    Nichols, B.E.2    Kimura, A.E.3
  • 41
    • 0035069172 scopus 로고    scopus 로고
    • Autosomal dominant Stargardt-like macular dystrophy: Founder effect and reassessment of genetic heterogeneity
    • Donoso LA, Frost AT, Stone EM, et al. Autosomal dominant Stargardt-like macular dystrophy: Founder effect and reassessment of genetic heterogeneity. Arch Ophthalmol 2001;119:564-70.
    • (2001) Arch Ophthalmol , vol.119 , pp. 564-570
    • Donoso, L.A.1    Frost, A.T.2    Stone, E.M.3
  • 42
    • 0035168415 scopus 로고    scopus 로고
    • A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy
    • Zhang K, Kniazeva M, Han M, et al. A 5-bp deletion in ELOVL4 is associated with two related forms of autosomal dominant macular dystrophy. Nat Genet 2001; 27:89-93.
    • (2001) Nat Genet , vol.27 , pp. 89-93
    • Zhang, K.1    Kniazeva, M.2    Han, M.3
  • 43
    • 0035145758 scopus 로고    scopus 로고
    • Prospective study of dietary fat and the risk of age-related macular degeneration
    • Cho E, Hung S, Willet WC, et al. Prospective study of dietary fat and the risk of age-related macular degeneration. Am J Clin Nutr 2001;73:209-18.
    • (2001) Am J Clin Nutr , vol.73 , pp. 209-218
    • Cho, E.1    Hung, S.2    Willet, W.C.3
  • 44
    • 0034020618 scopus 로고    scopus 로고
    • Dietary fat and fish intake and age-related maculopathy
    • Smith W, Mitchell P, Leeder SR. Dietary fat and fish intake and age-related maculopathy. Arch Ophthalmol 2000;118:401-4.
    • (2000) Arch Ophthalmol , vol.118 , pp. 401-404
    • Smith, W.1    Mitchell, P.2    Leeder, S.R.3
  • 45
    • 9044250844 scopus 로고    scopus 로고
    • Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21
    • Heon E, Piguet B, Munier F, et al. Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21. Arch Ophthalmol 1996;114: 193-8.
    • (1996) Arch Ophthalmol , vol.114 , pp. 193-198
    • Heon, E.1    Piguet, B.2    Munier, F.3
  • 46
    • 0030035986 scopus 로고    scopus 로고
    • The gene responsible for autosomal dominant Doyne's homeycomb retinal dystrophy (DHRD) maps to chromosome 2p16
    • Gregory CY, et al. The gene responsible for autosomal dominant Doyne's homeycomb retinal dystrophy (DHRD) maps to chromosome 2p16. Hum Mol Genet 1996;5:1055-9.
    • (1996) Hum Mol Genet , vol.5 , pp. 1055-1059
    • Gregory, C.Y.1
  • 47
    • 0033027071 scopus 로고    scopus 로고
    • A single EFEMP1 mutation is associated with both malattia leventinese and Doyne honeycomb retinal dystrophy
    • Stone EM, Lotery AJ, Munier FL, et al. A single EFEMP1 mutation is associated with both malattia leventinese and Doyne honeycomb retinal dystrophy. Nat Genet 1999;22:199-202.
    • (1999) Nat Genet , vol.22 , pp. 199-202
    • Stone, E.M.1    Lotery, A.J.2    Munier, F.L.3
  • 48
    • 0028097367 scopus 로고
    • Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
    • Weber BH, Vogt G, Pruett RC, et al. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy. Nat Genet 1994;8:352-6.
    • (1994) Nat Genet , vol.8 , pp. 352-356
    • Weber, B.H.1    Vogt, G.2    Pruett, R.C.3
  • 49
    • 0032479305 scopus 로고    scopus 로고
    • Localization of the functional domains of human tissue inhibitor of metalloproteinases-3 and the effects of a Sorsby's fundus dystrophy mutation
    • Langton KP, Barker MD, McKie N. Localization of the functional domains of human tissue inhibitor of metalloproteinases - 3 and the effects of a Sorsby's fundus dystrophy mutation. J Biol Chem 1998;273: 16778-81.
    • (1998) J Biol Chem , vol.273 , pp. 16778-16781
    • Langton, K.P.1    Barker, M.D.2    McKie, N.3
  • 50
    • 0024821434 scopus 로고
    • Sorsby's fundus dystrophy: A light and electron microscopic study
    • Capon MR, Marshall J, Krafft JI, et al. Sorsby's fundus dystrophy: a light and electron microscopic study. Ophthalmology 1989;96:1769-77.
    • (1989) Ophthalmology , vol.96 , pp. 1769-1777
    • Capon, M.R.1    Marshall, J.2    Krafft, J.I.3
  • 51
    • 0034057990 scopus 로고    scopus 로고
    • TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy
    • Chong NH, Alexander RA, Gin T, et al. TIMP-3, collagen, and elastin immunohistochemistry and histopathology of Sorsby's fundus dystrophy. Invest Ophthalmol Vis Sci 2000;41:898-902.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 898-902
    • Chong, N.H.1    Alexander, R.A.2    Gin, T.3
  • 52
    • 0029114249 scopus 로고
    • Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
    • Jacobson SG, Cideciyan AV, Regunath G, et al. Night blindness in Sorsby's fundus dystrophy reversed by vitamin A. Nat Genet 1995;11:27-32.
    • (1995) Nat Genet , vol.11 , pp. 27-32
    • Jacobson, S.G.1    Cideciyan, A.V.2    Regunath, G.3
  • 53
    • 0032468842 scopus 로고    scopus 로고
    • Age-related macular degeneration: Clinical features in a large family and linkage to chromosome 1q
    • Klein ML, Schultz DW, Edwards A, et al. Age-related macular degeneration: Clinical features in a large family and linkage to chromosome 1q. Arch Ophthalmol 1998;116:1082-8.
    • (1998) Arch Ophthalmol , vol.116 , pp. 1082-1088
    • Klein, M.L.1    Schultz, D.W.2    Edwards, A.3


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