1
|
White K, Marquardt A and Weber BH: VMD2
mutations in vitelliform macular dystrophy (Best disease) and other
maculopathies. Hum Mutat. 15:301–308. 2000. View Article : Google Scholar : PubMed/NCBI
|
2
|
Sun H, Tsunenari T, Yau KW and Nathans J:
The vitelliform macular dystrophy protein defines a new family of
chloride channels. Proc Natl Acad Sci USA. 99:4008–4013. 2002.
View Article : Google Scholar : PubMed/NCBI
|
3
|
Sodi A, Passerini I, Murro V, Caputo R,
Bacci GM, et al: BEST1 sequence variants in Italian patients with
vitelliform macular dystrophy. Mol Vis. 18:2736–2748.
2012.PubMed/NCBI
|
4
|
MacDonald IM and Lee T: Best vitelliform
macular dystrophy. GeneReviews® (Internet). Pagon RA,
Adam MP, Ardinger HH, Bird TD, Dolan CR, et al: University of
Washington; Seattle, WA: 2003
|
5
|
Hayami M, Decock C, Brabant P, Van
Kerckhoven W, Lafaut BA, et al: Optical coherence tomography of
adult-onset vitelliform dystrophy. Bull Soc Belge Ophtalmol.
289:53–61. 2003.PubMed/NCBI
|
6
|
Eksandh L, Bakall B, Bauer B, Wadelius C
and Andréasson S: Best’s vitelliform macular dystrophy caused by a
new mutation (Val89Ala) in the VMD2 gene. Ophthalmic Genet.
22:107–115. 2001. View Article : Google Scholar : PubMed/NCBI
|
7
|
Boon CJ, Theelen T, Hoefsloot EH, van
Schooneveld MJ, Keunen JE, et al: Clinical and molecular genetic
analysis of best vitelliform macular dystrophy. Retina. 29:835–847.
2009. View Article : Google Scholar : PubMed/NCBI
|
8
|
Furino C, Boscia F, Cardascia N, Sborgia L
and Sborgia C: Fundus autofluorescence, optical coherence
tomography and visual acuity in adult-onset foveomacular dystrophy.
Ophthalmologica. 222:240–244. 2008. View Article : Google Scholar : PubMed/NCBI
|
9
|
Caldwell GM, Kakuk LE, Griesinger IB,
Simpson SA, Nowak NJ, et al: Bestrophin gene mutations in patients
with best vitelliform macular dystrophy. Genomics. 58:98–101. 1999.
View Article : Google Scholar : PubMed/NCBI
|
10
|
Krämer F, Mohr N, Kellner U, Rudolph G and
Weber BH: Ten novel mutations in VMD2 associated with best macular
dystrophy (BMD). Hum Mutat. 22:4182003. View Article : Google Scholar : PubMed/NCBI
|
11
|
Krämer F, White K, Pauleikhoff D, Gehrig
A, Passmore L, et al: Mutations in the VMD2 gene are associated
with juvenile-onset vitelliform macular dystrophy (Best disease)
and adult vitelliform macular dystrophy but not age-related macular
degeneration. Eur J Hum Genet. 8:286–292. 2000. View Article : Google Scholar : PubMed/NCBI
|
12
|
MacDonald IM, Gudiseva HV, Villanueva A,
Greve M, Caruso R, et al: Phenotype and genotype of patients with
autosomal recessive bestrophinopathy. Ophthalmic Genet. 33:123–129.
2012. View Article : Google Scholar
|
13
|
Marchant D, Gogat K, Boutboul S, Pequignot
M, Sternberg C, et al: Identification of novel VMD2 gene mutations
in patients with best vitelliform macular dystrophy. Hum Mutat.
17:2352001. View
Article : Google Scholar : PubMed/NCBI
|
14
|
Marchant D, Yu K, Bigot K, Roche O,
Germain A, et al: New VMD2 gene mutations identified in patients
affected by best vitelliform macular dystrophy. J Med Genet.
44:e702007. View Article : Google Scholar : PubMed/NCBI
|
15
|
Musarella MA: Molecular genetics of
macular degeneration. Doc Ophthalmol. 102:165–177. 2001. View Article : Google Scholar : PubMed/NCBI
|
16
|
Sodi A, Passerini I, Simonelli F, Testa F,
Menchini U, et al: A novel mutation in the VMD2 gene in an Italian
family with best maculopathy. J Fr Ophtalmol. 30:616–620. 2007.
View Article : Google Scholar : PubMed/NCBI
|
17
|
Zhao L, Grob S, Corey R, Krupa M, Luo J,
et al: A novel compound heterozygous mutation in the BEST1 gene
causes autosomal recessive best vitelliform macular dystrophy. Eye
(Lond). 26:866–871. 2012. View Article : Google Scholar
|
18
|
Shamshinova AM: Local ERG for clinical
examination of eye diseases. Doc Ophthalmol. 76:1–11. 1990.
View Article : Google Scholar : PubMed/NCBI
|
19
|
Querques G, Zerbib J, Santacroce R,
Margaglione M, Delphin N, et al: Functional and clinical data of
best vitelliform macular dystrophy patients with mutations in the
BEST1 gene. Mol Vis. 15:2960–2972. 2009.
|
20
|
Lin Y, Liang X, Ai S, Chen C, Liu X, Luo
L, et al: FGFR2 molecular analysis and related clinical findings in
one Chinese family with Crouzon syndrome. Mol Vis. 18:449–454.
2012.PubMed/NCBI
|
21
|
Allikmets R, Seddon JM, Bernstein PS,
Hutchinson A, Atkinson A, et al: Evaluation of the best disease
gene in patients with age-related macular degeneration and other
maculopathies. Hum Genet. 104:449–453. 1999. View Article : Google Scholar : PubMed/NCBI
|
22
|
Brecher R and Bird AC: Adult vitelliform
macular dystrophy. Eye (Lond). 4:210–215. 1990. View Article : Google Scholar
|
23
|
Preising MN, Pasquay C, Friedburg C, Bowl
W, Jager M, et al: Autosomal recessive bestrophinopathy (ARB): a
clinical and molecular description of two patients at childhood.
Klin Monbl Augenheilkd. 229:1009–1017. 2012.In German. PubMed/NCBI
|
24
|
Lacassagne E, Dhuez A, Rigaudière F,
Dansault A, Vêtu C, Bigot K, Vieira V, Puech B, Defoort-Dhellemmes
S and Abitbol M: Phenotypic variability in a French family with a
novel mutation in the BEST1 gene causing multifocal best
vitelliform macular dystrophy. Mol Vis. 17:309–322. 2011.PubMed/NCBI
|
25
|
Booij JC, Boon CJ, van Schooneveld MJ, ten
Brink JB, Bakker A, et al: Course of visual decline in relation to
the Best1 genotype in vitelliform macular dystrophy. Ophthalmology.
117:1415–1422. 2010. View Article : Google Scholar : PubMed/NCBI
|
26
|
Fishman GA, Baca W, Alexander KR, Derlacki
DJ, Glenn AM, et al: Visual acuity in patients with best
vitelliform macular dystrophy. Ophthalmology. 100:1665–1670. 1993.
View Article : Google Scholar : PubMed/NCBI
|