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Volumn 32, Issue 2, 2011, Pages 83-96

Morphological and functional changes in multifocal vitelliform retinopathy and biallelic mutations in BEST1

Author keywords

BEST1; biallelic mutations; multifocal BVMD

Indexed keywords

GENOMIC DNA;

EID: 79955847261     PISSN: 13816810     EISSN: 17445094     Source Type: Journal    
DOI: 10.3109/13816810.2010.535890     Document Type: Article
Times cited : (32)

References (67)
  • 2
    • 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 USA. 2000;97:12758-12763.
    • (2000) Proc Natl Acad Sci USA. , vol.97 , pp. 12758-12763
    • Marmorstein, A.D.1    Marmorstein, L.Y.2    Rayborn, M.3
  • 3
    • 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)
    • DOI 10.1093/hmg/7.9.1517
    • Marquardt A, Stöhr H, Passmore LA, et al. Mutations in a novel gene, VMD2, encoding a protein of unknown prop-erties cause juvenile-onset vitelliform macular dystrophy (Best's disease). Hum Mol Genet.1998;7:1517-1525. (Pubitemid 28429935)
    • (1998) Human Molecular Genetics , vol.7 , Issue.9 , pp. 1517-1525
    • Marquardt, A.1    Stohr, H.2    Passmore, L.A.3    Kramer, F.4    Rivera, A.5    Weber, B.H.F.6
  • 8
    • 0034033295 scopus 로고    scopus 로고
    • VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies
    • DOI 10.1002/(SICI)1098-1004(200004)15:4<301::AID-HUMU1>3.0.CO;2-N
    • White K, Marquardt A, Weber BH. VMD2 mutations in vitel-liform macular dystrophy (Best disease) and other macul-opathies. Hum Mutat. 2000;15:301-308. (Pubitemid 30194719)
    • (2000) Human Mutation , vol.15 , Issue.4 , pp. 301-308
    • White, K.1    Marquardt, A.2    Weber, B.H.F.3
  • 9
    • 0034828520 scopus 로고    scopus 로고
    • Best's vitelliform macular dystrophy caused by a new mutation (val89ala) in the vmd2 gene
    • DOI 10.1076/opge.22.2.107.2226
    • Eksandh L, Bakall B, Bauer B, et al. Best's vitelliform macu-lar dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet. 2001;22:107-115. (Pubitemid 32881497)
    • (2001) Ophthalmic Genetics , vol.22 , Issue.2 , pp. 107-115
    • Eksandh, L.1    Bakall, B.2    Bauer, B.3    Wadelius, C.4    Andreasson, S.5
  • 10
    • 1942513832 scopus 로고    scopus 로고
    • Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD)
    • Krämer F, Mohr N, Kellner U, et al. Ten novel mutations in VMD2 associated with Best macular dystrophy (BMD). Hum Mutat. 2003;22:418.
    • (2003) Hum Mutat. , vol.22 , pp. 418
    • Krämer, F.1    Mohr, N.2    Kellner, U.3
  • 11
    • 33745045401 scopus 로고    scopus 로고
    • Novel de novo mutation in a patient with best macular dystrophy
    • DOI 10.1001/archopht.124.6.887
    • Apushkin MA, Fishman GA, Taylor CM, et al. Novel de novo mutation in a patient with Best macular dystrophy. Arch Ophthalmol. 2006;124:887-889. (Pubitemid 43877684)
    • (2006) Archives of Ophthalmology , vol.124 , Issue.6 , pp. 887-889
    • Apushkin, M.A.1    Fishman, G.A.2    Taylor, C.M.3    Stone, E.M.4
  • 12
    • 33745072446 scopus 로고    scopus 로고
    • Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2
    • DOI 10.1080/13816810600677990, PII R5110748453
    • Schatz P, Klar J, Andreasson S, et al. Variat phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet. 2006;27:51-56. (Pubitemid 43879985)
    • (2006) Ophthalmic Genetics , vol.27 , Issue.2 , pp. 51-56
    • Schatz, P.1    Klar, J.2    Andreasson, S.3    Ponjavic, V.4    Dahl, N.5
  • 14
    • 34147133354 scopus 로고    scopus 로고
    • New VMD2 gene muta-tions identifed in patients affected by Best vitelliform macu-lar dystrophy
    • Marchant D, Yu K, Bigot K, et al. New VMD2 gene muta-tions identifed in patients affected by Best vitelliform macu-lar dystrophy. J Med Genet. 2007;44,e70.
    • (2007) J Med Genet. , vol.44
    • Marchant, D.1    Yu, K.2    Bigot, K.3
  • 15
    • 55449106826 scopus 로고    scopus 로고
    • A normal electro-oculography in a family affected by Best disease with a novel spontaneous mutation of the BEST1 gene
    • Testa F, Rossi S, Passerini I, et al. A normal electro-oculography in a family affected by Best disease with a novel spontaneous mutation of the BEST1 gene. Br J Ophthalmol. 2008;92:1467-1470.
    • (2008) Br J Ophthalmol. , vol.92 , pp. 1467-1470
    • Testa, F.1    Rossi, S.2    Passerini, I.3
  • 16
    • 67650456911 scopus 로고    scopus 로고
    • Phenotypic variability due to a novel glu292lys variation in exon 8 of the BEST1 gene causing Best macular dystrophy
    • Sohn EH, Francis PJ, Duncan JL, et al. Phenotypic variability due to a novel glu292lys variation in exon 8 of the BEST1 gene causing Best macular dystrophy. Arch Ophthalmol. 2009;127: 913-920.
    • (2009) Arch Ophthalmol. , vol.127 , pp. 913-920
    • Sohn, E.H.1    Francis, P.J.2    Duncan, J.L.3
  • 17
    • 67749091133 scopus 로고    scopus 로고
    • Clinical and molec-ular genetic analysis of Best vitelliform macular dystrophy
    • Boon CJ, Theelen T, Hoefsloot EH, et al. Clinical and molec-ular genetic analysis of Best vitelliform macular dystrophy. Retina. 2009;29:835-847.
    • (2009) Retina. , vol.29 , pp. 835-847
    • Boon, C.J.1    Theelen, T.2    Hoefsloot, E.H.3
  • 18
    • 67349177030 scopus 로고    scopus 로고
    • The spectrum of ocular phenotypes caused by mutations in the BEST1 gene
    • Boon CJ, Klevering BJ, Leroy BP, et al. The spectrum of ocular phenotypes caused by mutations in the BEST1 gene. Prog Retinal Eye Res. 2009;28:187-205.
    • (2009) Prog Retinal Eye Res. , vol.28 , pp. 187-205
    • Boon, C.J.1    Klevering, B.J.2    Leroy, B.P.3
  • 20
    • 0034960793 scopus 로고    scopus 로고
    • The role of the retinal pigment epithelium: Topographical variation and ageing changes
    • Boulton M, Dayhaw-Barker P. The role of the retinal pigment epithelium: topographical variation and ageing changes. Eye. 2001;15:384-389. (Pubitemid 32600862)
    • (2001) Eye , vol.15 , Issue.3 , pp. 384-389
    • Boulton, M.1    Dayhaw-Barker, P.2
  • 22
    • 33748097447 scopus 로고    scopus 로고
    • The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function
    • DOI 10.1167/iovs.06-0524
    • Yu K, Cui Y, Hartzell C. The bestrophin mutation A243V, linked to adult-onset vitelliform macular dystrophy, impairs its chloride channel function. Invest Ophthalmol Vis Sci. 2006;47: 4956-4961. (Pubitemid 46586399)
    • (2006) Investigative Ophthalmology and Visual Science , vol.47 , Issue.11 , pp. 4956-4961
    • Yu, K.1    Cui, Y.2    Hartzell, H.C.3
  • 24
    • 35648960393 scopus 로고    scopus 로고
    • Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume
    • DOI 10.1085/jgp.200709795
    • Chien LT, Hartzell HC. Drosophila bestrophin-1 chloride current is dually regulated by calcium and cell volume. J Gen Physiol. 2007;130: 513-524. (Pubitemid 350036737)
    • (2007) Journal of General Physiology , vol.130 , Issue.5 , pp. 513-524
    • Chien, L.-T.1    Hartzell, H.C.2
  • 25
    • 34548306410 scopus 로고    scopus 로고
    • Calcium-dependent-chloride conductance in epithelia: Is there a con-tribution by bestrophin?
    • Kunzelmann K, Milenkovic VM, Spitzner M, et al. Calcium-dependent- chloride conductance in epithelia: is there a con-tribution by bestrophin? Eur J Physiol. 2007;454:879-889.
    • (2007) Eur J Physiol. , vol.454 , pp. 879-889
    • Kunzelmann, K.1    Milenkovic, V.M.2    Spitzner, M.3
  • 26
    • 33847699386 scopus 로고    scopus 로고
    • Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane
    • DOI 10.1074/jbc.M607383200
    • Milenkovic VM, Rivera A, Horling F, et al. Insertion and topology of normal and mutant bestrophin-1 in the endo-plasmic reticulum membrane. J Biol Chem. 2007;282: 1313-1321. (Pubitemid 47076533)
    • (2007) Journal of Biological Chemistry , vol.282 , Issue.2 , pp. 1313-1321
    • Milenkovic, V.M.1    Rivera, A.2    Horling, F.3    Weber, B.H.F.4
  • 27
  • 28
    • 42149185064 scopus 로고    scopus 로고
    • Molecular physiology of bestrophins: Multifunctional membrane proteins linked to best disease and other retinopathies
    • DOI 10.1152/physrev.00022.2007
    • Hartzell C, Qu Z, Yu K, et al. Molecular physiology of bestrophins: Multifunctional membrane proteins linked to Best disease and other retinopathies. Physiol Rev. 2008;88:639-672. (Pubitemid 351522747)
    • (2008) Physiological Reviews , vol.88 , Issue.2 , pp. 639-672
    • Hartzell, H.C.1    Qu, Z.2    Yu, K.3    Xiao, Q.4    Chien, L.-T.5
  • 29
    • 33646127365 scopus 로고    scopus 로고
    • The light peak of the electroretinogram is dependent on voltage-gated cal-cium channels and antagonized by bestrophin(Best-1)
    • Marmorstein LY, Wu J, McLaughlin P, et al. The light peak of the electroretinogram is dependent on voltage-gated cal-cium channels and antagonized by bestrophin(Best-1). J Gen Physiol. 2006;127:577-589.
    • (2006) J Gen Physiol. , vol.127 , pp. 577-589
    • Marmorstein, L.Y.1    Wu, J.2    McLaughlin, P.3
  • 31
    • 35148818345 scopus 로고    scopus 로고
    • Focus on molecules: Bestro-phin (Best-1)
    • Marmorstein AD, Kinnick TR. Focus on molecules: bestro-phin (Best-1). Exp Eye Res. 2007;85:423-424.
    • (2007) Exp Eye Res. , vol.85 , pp. 423-424
    • Marmorstein, A.D.1    Kinnick, T.R.2
  • 33
    • 34447302337 scopus 로고    scopus 로고
    • V1.3 subunits regulate the light peak of the electroretinogram
    • DOI 10.1152/jn.00146.2007
    • Wu J, Marmorstein AD, Striessnig J, et al. Voltage-dependent calcium channel CaV 1,3 subunits regulate the light peak of the electroretinogram. J Neurophysiol. 2007;97:3731-3735. (Pubitemid 47084784)
    • (2007) Journal of Neurophysiology , vol.97 , Issue.5 , pp. 3731-3735
    • Wu, J.1    Marmorstein, A.D.2    Striessnig, J.3    Peachey, N.S.4
  • 34
    • 0015962403 scopus 로고
    • Electro-oculography in Best's macular dystrophy
    • Cross HE, Bard L. Electro-oculography in Best's macular dystrophy. Am J Ophthalmol. 1974;77:46-50.
    • (1974) Am J Ophthalmol. , vol.77 , pp. 46-50
    • Cross, H.E.1    Bard, L.2
  • 37
    • 0034759030 scopus 로고    scopus 로고
    • Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystrophy, age-related maculopathy, and bull's-eye maculopathy
    • DOI 10.1016/S0161-6420(01)00777-1, PII S0161642001007771
    • Seddon JM, Afshari MA, Sharma S, et al. Assessment of mutations in the Best macular dystrophy (VMD2) gene in patients with adult-onset foveomacular vitelliform dystro-phy, age-related maculopathy, and bull's eye maculopathy. Ophthalmology. 2001;108:2060-2067. (Pubitemid 33032779)
    • (2001) Ophthalmology , vol.108 , Issue.11 , pp. 2060-2067
    • Seddon, J.M.1    Afshari, M.A.2    Sharma, S.3    Bernstein, P.S.4    Chong, S.5    Hutchinson, A.6    Petrukhin, K.7    Allikmets, R.8
  • 39
    • 69749104946 scopus 로고    scopus 로고
    • ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing
    • Burgess R, MacLaren RE, Davidson AE, et al. ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing. J Med Genet. 2009;46: 620-625.
    • (2009) J Med Genet. , vol.46 , pp. 620-625
    • Burgess, R.1    MacLaren, R.E.2    Davidson, A.E.3
  • 41
    • 71849105587 scopus 로고    scopus 로고
    • Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa
    • Davidson AE, Millar ID, Urquhart JE, et al. Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. Am J Hum Genet. 2009;85:581-92.
    • (2009) Am J Hum Genet. , vol.85 , pp. 581-92
    • Davidson, A.E.1    Millar, I.D.2    Urquhart, J.E.3
  • 42
    • 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;100:1115-1121. (Pubitemid 12078139)
    • (1982) Archives of Ophthalmology , vol.100 , Issue.7 , pp. 1115-1121
    • Frangieh, G.T.1    Green, W.R.2    Fine, S.L.3
  • 44
    • 0023695215 scopus 로고
    • Histopathologic fndings in Best's vitelliform macular dys-trophy
    • O'gorman S, Flaherty WA, Fishman GA, et al. Histopathologic fndings in Best's vitelliform macular dys-trophy. Arch Ophthalmol. 1988;106:1261-8.
    • (1988) Arch Ophthalmol. , vol.106 , pp. 1261-8
    • O'Gorman, S.1    Flaherty, W.A.2    Fishman, G.A.3
  • 45
    • 27744527044 scopus 로고    scopus 로고
    • Late development of vitelliform lesions and flecks in a patient with best disease: Clinicopathologic correlation
    • DOI 10.1001/archopht.123.11.1588
    • Mullins RF, Oh KT, Heffron E, et al. Late development of vitelliform lesions and fecks in a patient with Best disease: clinicopathologic correlation. Arch Ophthalmol. 2005: 123: 1588-1594. (Pubitemid 41626697)
    • (2005) Archives of Ophthalmology , vol.123 , Issue.11 , pp. 1588-1594
    • Mullins, R.F.1    Oh, K.T.2    Heffron, E.3    Hageman, G.S.4    Stone, E.M.5
  • 47
    • 0019421925 scopus 로고
    • Long-term evaluation of patients with Best's vitelliform dystrophy
    • Mohler CW, Fine SL. Long-term evaluation of patients with Best́s vitelliform dystrophy. Ophthalmology. 1981;88:688-692. (Pubitemid 11087734)
    • (1981) Ophthalmology , vol.88 , Issue.7 , pp. 688-692
    • Mohler, C.W.1    Fine, S.L.2
  • 49
    • 0017690799 scopus 로고
    • Multifocal Best's vitelliform dystrophy
    • Miller SA. Multifocal Best's vitelliform dystrophy. Arch Ophthalmol. 1977;95:984-990. (Pubitemid 8172223)
    • (1977) Archives of Ophthalmology , vol.95 , Issue.6 , pp. 984-990
    • Miller, S.A.1
  • 53
    • 38649123067 scopus 로고    scopus 로고
    • ISCEV guidelines for clinical multifocal electroretinography
    • Hood DC, Bach M, Brigell M, et al. ISCEV guidelines for clinical multifocal electroretinography. Doc Ophthalmol. 2008;116:1-11.
    • (2008) Doc Ophthalmol. , vol.116 , pp. 1-11
    • Hood, D.C.1    Bach, M.2    Brigell, M.3
  • 54
    • 84940818625 scopus 로고
    • Über eine hereditäre Maculaaffektion: Beitrag zur Vererbungslehre
    • Best F. Über eine hereditäre Maculaaffektion: Beitrag zur Vererbungslehre. Z Augenheilkd. 1905;13:199-212.
    • (1905) Z Augenheilkd. , vol.13 , pp. 199-212
    • Best, F.1
  • 56
    • 0018936196 scopus 로고
    • Dominantly inherited macular degeneration (Best's disease) in a homozygous father with 11 children
    • Nordström S, Thorburn W. Dominantly inherited macular degeneration (Best́s disease) in a homozygous father with 11 children. Clin Genet. 1980;18:211-216. (Pubitemid 10004838)
    • (1980) Clinical Genetics , vol.18 , Issue.3 , pp. 211-216
    • Nordstrom, S.1    Thorburn, W.2
  • 57
    • 33751011031 scopus 로고    scopus 로고
    • Localization of multifocal electroretinogram abnormalities to the lesion site: Findings in a family with best disease
    • DOI 10.1001/archopht.124.11.1593
    • Glybina I V, Frank RN. Localization of multifocal elec-troretinogram abnormalities to the lesion site: fndings in a family with Best disease. Arch Ophthalmol. 2006;124:1593-1600. (Pubitemid 44748734)
    • (2006) Archives of Ophthalmology , vol.124 , Issue.11 , pp. 1593-1600
    • Glybina, I.V.1    Frank, R.N.2
  • 58
    • 67349108326 scopus 로고    scopus 로고
    • Detailed analysis of retinal function and morphology in a patient with auto-somal recessive bestrophinopathy (ARB)
    • Gerth C, Zawadzki RJ, Werner JS, et al. Detailed analysis of retinal function and morphology in a patient with auto-somal recessive bestrophinopathy (ARB). Doc Ophthalmol. 2009;118:239-246.
    • (2009) Doc Ophthalmol. , vol.118 , pp. 239-246
    • Gerth, C.1    Zawadzki, R.J.2    Werner, J.S.3
  • 60
    • 77955901553 scopus 로고    scopus 로고
    • Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1
    • Schatz P, Bitner H, Sander B, et al. Evaluation of macular structure and function by OCT and electrophysiology in patients with vitelliform macular dystrophy due to mutations in BEST1. Invest Ophthalmol Vis Sci. 2010;51:4754-4765.
    • (2010) Invest Ophthalmol Vis Sci. , vol.51 , pp. 4754-4765
    • Schatz, P.1    Bitner, H.2    Sander, B.3
  • 62
    • 0037680312 scopus 로고    scopus 로고
    • Morphological and functional analyses of adult onset vitelliform macular dystrophy
    • DOI 10.1136/bjo.87.6.758
    • Saito W, Yamamoto S, Hayashi M, et al. Morphological and functional analyses of adult onset vitelliform macular dys-trophy. Br J Ophthalmol. 2003;87:758-762. (Pubitemid 36649231)
    • (2003) British Journal of Ophthalmology , vol.87 , Issue.6 , pp. 758-762
    • Saito, W.1    Yamamoto, S.2    Hayashi, M.3    Ogata, K.4
  • 64
    • 14244263812 scopus 로고    scopus 로고
    • Optical coherence tomography in Best's disease: An observational case report
    • DOI 10.1016/j.ajo.2004.07.039
    • Vedantham V, Ramasamy K. Optical coherence tomogra¬phy in Best's disease: an observational case report. Am J Ophthalmol. 2005; 139:351-353. (Pubitemid 40288287)
    • (2005) American Journal of Ophthalmology , vol.139 , Issue.2 , pp. 351-353
    • Vedantham, V.1    Ramasamy, K.2
  • 65
    • 45449101862 scopus 로고    scopus 로고
    • Correlation of visual function impairment and optical coherence tomography fndings in patients with adult-onset foveomacular vitel-liform macular dystrophy
    • Querques G, Bux AV, Prato R, et al. Correlation of visual function impairment and optical coherence tomography fndings in patients with adult-onset foveomacular vitel-liform macular dystrophy. Am J Ophthalmol. 2008;146: 135-142.e2
    • (2008) Am J Ophthalmol. , vol.146
    • Querques, G.1    Bux, A.V.2    Prato, R.3
  • 66
    • 51649107003 scopus 로고    scopus 로고
    • High-defnition optical coherence tomography features in vitelliform macu-lar dystrophy
    • Querques G, Regenbogen M, Quijano C, et al. High-defnition optical coherence tomography features in vitelliform macu-lar dystrophy. Am J Ophthalmol. 2008;146:501-507.e1
    • (2008) Am J Ophthalmol. , vol.146
    • Querques, G.1    Regenbogen, M.2    Quijano, C.3


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