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Volumn 54, Issue 3, 2009, Pages 401-407

Choroideremia: New Findings from Ocular Pathology and Review of Recent Literature

Author keywords

choroideremia; histopathology; mutation analysis; retinal degeneration

Indexed keywords

RAB PROTEIN;

EID: 65349134246     PISSN: 00396257     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.survophthal.2009.02.008     Document Type: Article
Times cited : (94)

References (47)
  • 1
    • 50949166611 scopus 로고    scopus 로고
    • Choroideremia: analysis of the retina from a female symptomatic carrier
    • Bonilha V.L., Trzupek K.M., Li Y., et al. Choroideremia: analysis of the retina from a female symptomatic carrier. Ophthalmic Genetics 29 (2008) 99-110
    • (2008) Ophthalmic Genetics , vol.29 , pp. 99-110
    • Bonilha, V.L.1    Trzupek, K.M.2    Li, Y.3
  • 2
    • 33745827046 scopus 로고    scopus 로고
    • Muller cells in the health and diseased retina
    • Bringmann A., Pannicke T., Grosche J., et al. Muller cells in the health and diseased retina. Prog Retin Eye Res 25 (2006) 397-424
    • (2006) Prog Retin Eye Res , vol.25 , pp. 397-424
    • Bringmann, A.1    Pannicke, T.2    Grosche, J.3
  • 3
    • 0023131206 scopus 로고
    • Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract
    • Cameron J.D., Fine B.S., and Shapiro I. Histopathologic observations in choroideremia with emphasis on vascular changes of the uveal tract. Ophthalmology 94 (1987) 187-196
    • (1987) Ophthalmology , vol.94 , pp. 187-196
    • Cameron, J.D.1    Fine, B.S.2    Shapiro, I.3
  • 4
    • 33750497434 scopus 로고    scopus 로고
    • Unraveling a complex genetic disease: age-related macular degeneration
    • Chamberlain M., Baird P., Dirani M., and Guymer R. Unraveling a complex genetic disease: age-related macular degeneration. Surv Ophthalmol 51 (2006) 576-586
    • (2006) Surv Ophthalmol , vol.51 , pp. 576-586
    • Chamberlain, M.1    Baird, P.2    Dirani, M.3    Guymer, R.4
  • 5
    • 0033254665 scopus 로고    scopus 로고
    • Newer methodologies in immunohistochemistry and diagnosis
    • Chan C.C., and Shen D.F. Newer methodologies in immunohistochemistry and diagnosis. Dev Ophthalmol 31 (1999) 1-13
    • (1999) Dev Ophthalmol , vol.31 , pp. 1-13
    • Chan, C.C.1    Shen, D.F.2
  • 6
    • 34948898131 scopus 로고    scopus 로고
    • CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration
    • Combadière C., Feumi C., Raoul W., et al. CX3CR1-dependent subretinal microglia cell accumulation is associated with cardinal features of age-related macular degeneration. J Clin Invest 117 (2007) 2920-2928
    • (2007) J Clin Invest , vol.117 , pp. 2920-2928
    • Combadière, C.1    Feumi, C.2    Raoul, W.3
  • 7
    • 0028040141 scopus 로고
    • REP-2, a Rab escort protein encoded by the choroideremia-like gene
    • Cremers F.P.M., Armstrong S.A., Seabra M.C., et al. REP-2, a Rab escort protein encoded by the choroideremia-like gene. J Biol Chem 269 (1994) 2111-2117
    • (1994) J Biol Chem , vol.269 , pp. 2111-2117
    • Cremers, F.P.M.1    Armstrong, S.A.2    Seabra, M.C.3
  • 8
    • 0028361558 scopus 로고
    • Granulomatous reaction to Bruch's membrane in age-related macular degeneration
    • Dastgheib K., and Green W.R. Granulomatous reaction to Bruch's membrane in age-related macular degeneration. Arch Ophthalmol 112 (1994) 813-818
    • (1994) Arch Ophthalmol , vol.112 , pp. 813-818
    • Dastgheib, K.1    Green, W.R.2
  • 9
    • 33749440219 scopus 로고    scopus 로고
    • Age-related macular degeneration
    • De Jong P.T. Age-related macular degeneration. N Engl J Med 355 (2006) 1474-1485
    • (2006) N Engl J Med , vol.355 , pp. 1474-1485
    • De Jong, P.T.1
  • 10
    • 33144459399 scopus 로고    scopus 로고
    • The role of inflammation in the pathogenesis of age-related macular degeneration
    • Donoso L.A., Kim D., Frost A., et al. The role of inflammation in the pathogenesis of age-related macular degeneration. Surv Ophthalmol 51 (2006) 137-152
    • (2006) Surv Ophthalmol , vol.51 , pp. 137-152
    • Donoso, L.A.1    Kim, D.2    Frost, A.3
  • 11
    • 17244379811 scopus 로고    scopus 로고
    • Complement factor H polymorphism and age-related macular degeneration
    • Edwards A.O., Ritter III R., Abel K.J., et al. Complement factor H polymorphism and age-related macular degeneration. Science 308 (2005) 421-424
    • (2005) Science , vol.308 , pp. 421-424
    • Edwards, A.O.1    Ritter III, R.2    Abel, K.J.3
  • 12
  • 13
    • 0018850817 scopus 로고
    • Pathological findings from two cases of choroideremia
    • 1980
    • Ghosh M., and McCulloch J.C. Pathological findings from two cases of choroideremia. Can J Ophthalmol 15 (1980) 147-153 1980
    • (1980) Can J Ophthalmol , vol.15 , pp. 147-153
    • Ghosh, M.1    McCulloch, J.C.2
  • 14
    • 0023935889 scopus 로고
    • Pathological study in a female carrier of choroideremia
    • Ghosh M., McCulloch C., and Parker J.A. Pathological study in a female carrier of choroideremia. Can J Ophthalmol 23 (1988) 181-186
    • (1988) Can J Ophthalmol , vol.23 , pp. 181-186
    • Ghosh, M.1    McCulloch, C.2    Parker, J.A.3
  • 15
    • 33645419787 scopus 로고    scopus 로고
    • Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration
    • Gold B., Merriam J.E., Zernant J., et al. Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration. Nat Genet 38 (2006) 458-462
    • (2006) Nat Genet , vol.38 , pp. 458-462
    • Gold, B.1    Merriam, J.E.2    Zernant, J.3
  • 16
    • 33846654254 scopus 로고    scopus 로고
    • Chlamydia pneumoniae and age-related macular degeneration: a role in pathogenesis or merely a chance association?
    • Guymer R., and Robman L. Chlamydia pneumoniae and age-related macular degeneration: a role in pathogenesis or merely a chance association?. Clin Exp Ophthalmol 35 (2007) 89-93
    • (2007) Clin Exp Ophthalmol , vol.35 , pp. 89-93
    • Guymer, R.1    Robman, L.2
  • 17
    • 33745670172 scopus 로고    scopus 로고
    • The genetics of age-related macular degeneration: a review of progress to date
    • Haddad S., Chen C.A., Santangelo S.L., and Seddon J.M. The genetics of age-related macular degeneration: a review of progress to date. Surv Ophthalmol 51 (2006) 316-363
    • (2006) Surv Ophthalmol , vol.51 , pp. 316-363
    • Haddad, S.1    Chen, C.A.2    Santangelo, S.L.3    Seddon, J.M.4
  • 18
    • 0034832029 scopus 로고    scopus 로고
    • An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration
    • Hageman G.S., Luthert P.J., Victor Chong N.H., et al. An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration. Prog Retin Eye Res 20 (2001) 705-732
    • (2001) Prog Retin Eye Res , vol.20 , pp. 705-732
    • Hageman, G.S.1    Luthert, P.J.2    Victor Chong, N.H.3
  • 19
    • 21044453724 scopus 로고    scopus 로고
    • A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
    • Hageman G.S., Anderson D.H., Johnson L.V., et al. A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration. Proc Natl Acad Sci USA 102 (2005) 7227-7232
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 7227-7232
    • Hageman, G.S.1    Anderson, D.H.2    Johnson, L.V.3
  • 20
    • 20244388812 scopus 로고    scopus 로고
    • Complement factor H variant increases the risk of age-related macular degeneration
    • Haines J.L., Hauser M.A., Schmidt S., et al. Complement factor H variant increases the risk of age-related macular degeneration. Science (2005) 308419-308421
    • (2005) Science , pp. 308419-308421
    • Haines, J.L.1    Hauser, M.A.2    Schmidt, S.3
  • 21
    • 33749140610 scopus 로고    scopus 로고
    • Remodeling of the human retina in choroideremia: Rab escort protein 1 (REP-1) mutations
    • Jacobson S.G., Cideciyan A.V., Sumaroka A., et al. Remodeling of the human retina in choroideremia: Rab escort protein 1 (REP-1) mutations. Invest Ophthamol Vis Sci 47 (2006) 4113-4120
    • (2006) Invest Ophthamol Vis Sci , vol.47 , pp. 4113-4120
    • Jacobson, S.G.1    Cideciyan, A.V.2    Sumaroka, A.3
  • 22
    • 20244380171 scopus 로고    scopus 로고
    • Complement factor H polymorphism in age-related macular degeneration
    • Klein R.J., Zeiss C., Chew E.Y., et al. Complement factor H polymorphism in age-related macular degeneration. Science 308 (2005) 385-389
    • (2005) Science , vol.308 , pp. 385-389
    • Klein, R.J.1    Zeiss, C.2    Chew, E.Y.3
  • 23
    • 34248391443 scopus 로고    scopus 로고
    • Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia
    • Krock B.L., Bilotta J., and Perkins B.D. Noncell-autonomous photoreceptor degeneration in a zebrafish model of choroideremia. Proc Natl Acad Sci USA 104 (2007) 4600-4605
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 4600-4605
    • Krock, B.L.1    Bilotta, J.2    Perkins, B.D.3
  • 24
    • 0031732871 scopus 로고    scopus 로고
    • A practical diagnostic test for choroideremia
    • MacDonald I.M., Mah D.Y., Ho Y.K., et al. A practical diagnostic test for choroideremia. Ophthalmology 105 (1998) 1637-1640
    • (1998) Ophthalmology , vol.105 , pp. 1637-1640
    • MacDonald, I.M.1    Mah, D.Y.2    Ho, Y.K.3
  • 26
    • 65349125627 scopus 로고
    • The pathologic findings in two cases of choroideremia
    • McCulloch J.C. The pathologic findings in two cases of choroideremia. Trans Am Acad Ophthalmol Otolaryngol 56 (1950) 565-572
    • (1950) Trans Am Acad Ophthalmol Otolaryngol , vol.56 , pp. 565-572
    • McCulloch, J.C.1
  • 27
    • 0036024998 scopus 로고    scopus 로고
    • Mutational analysis of patients with the diagnosis of choroideremia
    • McTaggart K.E., Tran M., Mah D.Y., et al. Mutational analysis of patients with the diagnosis of choroideremia. Human Mutation 20 (2002) 189-196
    • (2002) Human Mutation , vol.20 , pp. 189-196
    • McTaggart, K.E.1    Tran, M.2    Mah, D.Y.3
  • 28
    • 33947128185 scopus 로고    scopus 로고
    • Role of genetic factors and inflammation in age-related macular degeneration
    • Moshfeghi D.M., and Blumenkranz M.S. Role of genetic factors and inflammation in age-related macular degeneration. Retina 27 (2007) 269-275
    • (2007) Retina , vol.27 , pp. 269-275
    • Moshfeghi, D.M.1    Blumenkranz, M.S.2
  • 29
    • 34547876065 scopus 로고    scopus 로고
    • Clinical and functional findings in choroideremia due to complete deletion of the CHM gene
    • Mura M., Sereda C., Jablonski M.M., MacDonald I.M., and Iannaccone A. Clinical and functional findings in choroideremia due to complete deletion of the CHM gene. Arch Ophthalmol 125 (2007) 1107-1113
    • (2007) Arch Ophthalmol , vol.125 , pp. 1107-1113
    • Mura, M.1    Sereda, C.2    Jablonski, M.M.3    MacDonald, I.M.4    Iannaccone, A.5
  • 31
    • 6344231354 scopus 로고    scopus 로고
    • Rab escort protein 1 (REP1) in intracellular traffic: a funcitonal and pathophysiological overview
    • Preising M., and Ayuso C. Rab escort protein 1 (REP1) in intracellular traffic: a funcitonal and pathophysiological overview. Ophthalmic Genetics 25 (2004) 101-110
    • (2004) Ophthalmic Genetics , vol.25 , pp. 101-110
    • Preising, M.1    Ayuso, C.2
  • 32
    • 0014339715 scopus 로고
    • Choroideremia. A pathological report
    • Rafuse E.V., and McCulloch C. Choroideremia. A pathological report. Can J Ophthalmol 3 (1968) 347-352
    • (1968) Can J Ophthalmol , vol.3 , pp. 347-352
    • Rafuse, E.V.1    McCulloch, C.2
  • 33
    • 33750300224 scopus 로고    scopus 로고
    • Macular degeneration: recent advances and therapeutic opportunities
    • Rattner A., and Nathans J. Macular degeneration: recent advances and therapeutic opportunities. Nat Rev Neurosci 7 (2006) 860-872
    • (2006) Nat Rev Neurosci , vol.7 , pp. 860-872
    • Rattner, A.1    Nathans, J.2
  • 34
    • 0021212980 scopus 로고
    • Choroideremia: a clinical, electron microscopic, and biochemical report
    • Rodrigues M.M., Ballintine E.J., Wiggert B.N., et al. Choroideremia: a clinical, electron microscopic, and biochemical report. Ophthalmology 91 (1984) 873-883
    • (1984) Ophthalmology , vol.91 , pp. 873-883
    • Rodrigues, M.M.1    Ballintine, E.J.2    Wiggert, B.N.3
  • 35
    • 41149129090 scopus 로고    scopus 로고
    • Genetic markers and biomarkers for age-related macular degeneration
    • Ross R.J., Varma V., Rosenberg K.I., et al. Genetic markers and biomarkers for age-related macular degeneration. Expert Rev Ophthalmol 2 (2007) 443-457
    • (2007) Expert Rev Ophthalmol , vol.2 , pp. 443-457
    • Ross, R.J.1    Varma, V.2    Rosenberg, K.I.3
  • 36
    • 0026800719 scopus 로고
    • Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product
    • Seabra M.C., Brown M.S., Slaughter C.A., et al. Purification of component A of Rab geranylgeranyl transferase: possible identity with the choroideremia gene product. Cell 70 (1992) 1049-1057
    • (1992) Cell , vol.70 , pp. 1049-1057
    • Seabra, M.C.1    Brown, M.S.2    Slaughter, C.A.3
  • 37
  • 38
    • 20644467790 scopus 로고    scopus 로고
    • Progression of age-related macular degeneration: prospective assessment of C-reactice protein, interleukin 6, and other cardiovascular biomarkers
    • Seddon J.M., George S., Rosner B., and Rifai N. Progression of age-related macular degeneration: prospective assessment of C-reactice protein, interleukin 6, and other cardiovascular biomarkers. Arch Ophthalmol 123 (2005) 774-782
    • (2005) Arch Ophthalmol , vol.123 , pp. 774-782
    • Seddon, J.M.1    George, S.2    Rosner, B.3    Rifai, N.4
  • 40
    • 0035083014 scopus 로고    scopus 로고
    • Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
    • Syed N., Smith J.E., John S.K., et al. Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia. Ophthalmology 108 (2001) 711-720
    • (2001) Ophthalmology , vol.108 , pp. 711-720
    • Syed, N.1    Smith, J.E.2    John, S.K.3
  • 41
    • 4444258865 scopus 로고    scopus 로고
    • Pathogenesis of age-related macular degeneration
    • Tezel Y.H., Bora N.S., and Kaplan H.J. Pathogenesis of age-related macular degeneration. Trends Mol Med 10 (2004) 417-420
    • (2004) Trends Mol Med , vol.10 , pp. 417-420
    • Tezel, Y.H.1    Bora, N.S.2    Kaplan, H.J.3
  • 42
    • 32444439446 scopus 로고    scopus 로고
    • Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia
    • Tolmachova T., Anders R., Abrink M., et al. Independent degeneration of photoreceptors and retinal pigment epithelium in conditional knockout mouse models of choroideremia. J Clin Invest 116 (2006) 386-394
    • (2006) J Clin Invest , vol.116 , pp. 386-394
    • Tolmachova, T.1    Anders, R.2    Abrink, M.3
  • 43
    • 9444220221 scopus 로고    scopus 로고
    • The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration
    • Tuo J., Smith B.C., Bojanowski C.M., et al. The involvement of sequence variation and expression of CX3CR1 in the pathogenesis of age-related macular degeneration. FASEB J 18 (2004) 1297-1299
    • (2004) FASEB J , vol.18 , pp. 1297-1299
    • Tuo, J.1    Smith, B.C.2    Bojanowski, C.M.3
  • 44
    • 0026749895 scopus 로고
    • Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing
    • van den Hurk J.A., van de Pol T.J., Molloy C.M., et al. Detection and characterization of point mutations in the choroideremia candidate gene by PCR-SSCP analysis and direct DNA sequencing. Am J Hum Genet 50 (1992) 1195-1202
    • (1992) Am J Hum Genet , vol.50 , pp. 1195-1202
    • van den Hurk, J.A.1    van de Pol, T.J.2    Molloy, C.M.3
  • 45
    • 8244220326 scopus 로고    scopus 로고
    • Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline
    • van den Hurk J.A.J.M., Hendriks W., van de Pol D.J.R., et al. Mouse choroideremia gene mutation causes photoreceptor cell degeneration and is not transmitted through the female germline. Hum Mol Genet 6 (1997) 851-858
    • (1997) Hum Mol Genet , vol.6 , pp. 851-858
    • van den Hurk, J.A.J.M.1    Hendriks, W.2    van de Pol, D.J.R.3
  • 46
    • 20544433415 scopus 로고    scopus 로고
    • Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration
    • Zareparsi S., Buraczynska M., Branham K.E., et al. Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration. Hum Mol Genet 14 (2005) 1449-1455
    • (2005) Hum Mol Genet , vol.14 , pp. 1449-1455
    • Zareparsi, S.1    Buraczynska, M.2    Branham, K.E.3
  • 47
    • 1842478123 scopus 로고    scopus 로고
    • Current concepts in the pathogenesis of age-related macular degeneration
    • Zarbin M.A. Current concepts in the pathogenesis of age-related macular degeneration. Arch Ophthalmol 122 (2004) 598-614
    • (2004) Arch Ophthalmol , vol.122 , pp. 598-614
    • Zarbin, M.A.1


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