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Volumn 25, Issue 1, 2011, Pages 113-118

BEST1-related autosomal dominant vitreoretinochoroidopathy: A degenerative disease with a range of developmental ocular anomalies

Author keywords

BEST1 protein; dominant genes; electro oculography; electroretinography; glaucoma; retinal degeneration

Indexed keywords

ADULT; ANTERIOR EYE CHAMBER DEPTH; ARTICLE; AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY; BEST1 GENE; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; CLOSED ANGLE GLAUCOMA; DYSPLASIA; ELECTROOCULOGRAPHY; ELECTROPHYSIOLOGY; ELECTRORETINOGRAM; EYE MALFORMATION; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HUMAN; HYPERPIGMENTATION; IRIS DISEASE; MALE; OPTIC NERVE DISEASE; OPTICAL COHERENCE TOMOGRAPHY; PHENOTYPE; PSYCHOPHYSIOLOGY; RETROSPECTIVE STUDY; VISUAL ACUITY; VITREORETINAL DEGENERATION;

EID: 78651375114     PISSN: 0950222X     EISSN: 14765454     Source Type: Journal    
DOI: 10.1038/eye.2010.165     Document Type: Article
Times cited : (24)

References (19)
  • 4
    • 0027388899 scopus 로고
    • Autosomal dominant vitreoretinochoroidopathy Report of the third family
    • Traboulsi EI, Payne JW. Autosomal dominant vitreoretinochoroidopathy Report of the third family Arch Ophthalmol 1993; 111: 194-196.
    • (1993) Arch Ophthalmol , vol.111 , pp. 194-196
    • Traboulsi, E.I.1    Payne, J.W.2
  • 5
    • 4644234070 scopus 로고    scopus 로고
    • Mutations of BEST1 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC)
    • Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM et al. Mutations of BEST1 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci 2004; 45: 3683-3689.
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 3683-3689
    • Yardley, J.1    Leroy, B.P.2    Hart-Holden, N.3    Lafaut, B.A.4    Loeys, B.5    Messiaen, L.M.6
  • 6
    • 0027483211 scopus 로고
    • Hérédo-dystrophie choriorétinovitréenne microcornée glaucome et cataracte
    • François P, Puech B, Hache JC, Lafinneur Q. Hérédo- dystrophie choriorétinovitréenne, microcornée, glaucome et cataracte. J Fr Ophtalmol 1993; 16: 29-40.
    • (1993) J Fr Ophtalmol , vol.16 , pp. 29-40
    • François, P.1    Puech, B.2    Hache, J.C.3    Lafinneur, Q.4
  • 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, Wang X, Hollyfield JG, Petrukhin K. 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    Wang, X.4    Hollyfield, J.G.5    Petrukhin, K.6
  • 10
    • 33646127365 scopus 로고    scopus 로고
    • The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (Best-1)
    • Marmorstein LY, Wu J, McLaughlin P, Yocom J, Karl MO, Neussert R et al. The light peak of the electroretinogram is dependent on voltage-gated calcium 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    Yocom, J.4    Karl, M.O.5    Neussert, R.6
  • 12
    • 84940818625 scopus 로고
    • Uber eine hereditare Maculaaffektion Beitrage zur Vererbungslehre
    • Best F. Uber eine hereditare Maculaaffektion. Beitrage zur Vererbungslehre. Zeitschrift fuir Augenheilkuntde 1905; 13: 199-212.
    • (1905) Zeitschrift Fuir Augenheilkuntde , vol.13 , pp. 199-212
    • Best, F.1
  • 13
    • 0016134907 scopus 로고
    • A clinicopathologic study of a peculiar foveomacular dystrophy
    • Gass JD. A clinicopathologic study of a peculiar foveomacular dystrophy Trans Am Ophthalmol Soc 1974; 72: 139-156.
    • (1974) Trans Am Ophthalmol Soc , vol.72 , pp. 139-156
    • Gass, J.D.1
  • 15
    • 0001024728 scopus 로고    scopus 로고
    • Heredodystrophic disorders affecting the pigment epithelium and retina
    • Gass JD (ed) CV Mosby: St Louis
    • Gass JD. Heredodystrophic disorders affecting the pigment epithelium and retina. In: Gass JD (ed). Stereoscopic Atlas of Macular diseases: Diagnosis and Treatment. CV Mosby: St Louis, 1997, pp 304-325.
    • (1997) Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment , pp. 304-325
    • Gass, J.D.1
  • 16
    • 3543047077 scopus 로고    scopus 로고
    • Morphology and functional characteristics in adult vitelliform macular dystrophy
    • Renner AB, Tillack H, Kraus H, Kohl S, Wissinger B, Mohr N et al. Morphology and functional characteristics in adult vitelliform macular dystrophy Retina 2004; 24: 929-939.
    • (2004) Retina , vol.24 , pp. 929-939
    • Renner, A.B.1    Tillack, H.2    Kraus, H.3    Kohl, S.4    Wissinger, B.5    Mohr, N.6
  • 17
    • 67349108326 scopus 로고    scopus 로고
    • Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB)
    • Gerth C, Zawadzki RJ, Werner JS, Héon E. Detailed analysis of retinal function and morphology in a patient with autosomal 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    Héon, E.4
  • 18
    • 16244387640 scopus 로고    scopus 로고
    • Late onset is common in best macular dystrophy associated with VMD2 gene mutations
    • Renner AB, Tillack H, Kraus H, Krämer F, Mohr N, Weber BH et al. Late onset is common in best macular dystrophy associated with VMD2 gene mutations. Ophthalmology 2005; 112: 586-592.
    • (2005) Ophthalmology , vol.112 , pp. 586-592
    • Renner, A.B.1    Tillack, H.2    Kraus, H.3    Krämer, F.4    Mohr, N.5    Weber, B.H.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.