Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1983 1
1988 1
1990 1
1992 1
1994 1
1999 1
2000 1
2004 2
2006 3
2007 4
2008 3
2009 1
2011 2
2012 3
2013 6
2014 5
2015 2
2016 3
2017 8
2018 6
2019 1
2020 6
2021 7
2022 6
2023 4
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

64 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Vitelliform macular dystrophy 1"
Page 1
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ, Lee HS, Kim K, Choi S, Jang I, Cho SH, Yoon CK, Lee EK, Yu HG. Ma DJ, et al. BMC Med Genomics. 2021 Mar 10;14(1):74. doi: 10.1186/s12920-021-00874-6. BMC Med Genomics. 2021. PMID: 33691693 Free PMC article.
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Association for Molecular Pathology variant interpretation guidelines, in silico prediction tools, published literature, and compatibility wit …
The potential pathogenicity of candidate variants was assessed using the American College of Medical Genetics and Genomics and the Associati …
Underdeveloped RPE Apical Domain Underlies Lesion Formation in Canine Bestrophinopathies.
Guziewicz KE, McTish E, Dufour VL, Zorych K, Dhingra A, Boesze-Battaglia K, Aguirre GD. Guziewicz KE, et al. Adv Exp Med Biol. 2018;1074:309-315. doi: 10.1007/978-3-319-75402-4_38. Adv Exp Med Biol. 2018. PMID: 29721958 Free PMC article. Review.
The lesions can be macular or extramacular, and the specific pathomechanism leading to formation of these lesions remains unclear. We used the naturally occurring canine BEST1 model to examine factors that underlie formation of vitelliform lesions and addressed the …
The lesions can be macular or extramacular, and the specific pathomechanism leading to formation of these lesions remains unclear. We …
Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.
Battaglia Parodi M, Bianco L, Arrigo A, Saladino A, Antropoli A, Pina A, Marchese A, Aragona E, Rashid HF, Bandello F. Battaglia Parodi M, et al. Transl Vis Sci Technol. 2022 Sep 1;11(9):24. doi: 10.1167/tvst.11.9.24. Transl Vis Sci Technol. 2022. PMID: 36156730 Free PMC article.
PURPOSE: To investigate the clinical and imaging features associated with retinal sensitivity in Best vitelliform macular dystrophy (BVMD). METHODS: This was a cross-sectional, single-center, observational study. ...Mean retinal sensitivity varied acco …
PURPOSE: To investigate the clinical and imaging features associated with retinal sensitivity in Best vitelliform macular d …
The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.
Boon CJ, Klevering BJ, Leroy BP, Hoyng CB, Keunen JE, den Hollander AI. Boon CJ, et al. Prog Retin Eye Res. 2009 May;28(3):187-205. doi: 10.1016/j.preteyeres.2009.04.002. Epub 2009 Apr 16. Prog Retin Eye Res. 2009. PMID: 19375515 Review.
The bestrophin-1 protein forms a Ca(2+) activated Cl(-) channel and is involved in the regulation of voltage-dependent Ca(2+) channels. ...The purpose of this review is to describe this spectrum of phenotypes, which includes Best vitelliform macular dystro …
The bestrophin-1 protein forms a Ca(2+) activated Cl(-) channel and is involved in the regulation of voltage-dependent Ca(2+) channel …
Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Clinical Spectrum and Multimodal Imaging Characteristics.
Barbazetto I, Dansingani KK, Dolz-Marco R, Giovannini A, Piccolino FC, Agarwal A, Lima LH, Vianna RN, Yannuzzi LA. Barbazetto I, et al. Ophthalmology. 2018 Jan;125(1):75-88. doi: 10.1016/j.ophtha.2017.07.020. Epub 2017 Aug 23. Ophthalmology. 2018. PMID: 28844323
PURPOSE: To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM). DESIGN: Retrospective, observational, multicenter case series review. ...RESULTS: Eighteen patients (age range, 21-74 years) with typical features o …
PURPOSE: To describe clinical findings in patients with acute exudative polymorphous vitelliform maculopathy (AEPVM). DESIGN: Retrosp …
Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.
Miyagi M, Takeuchi J, Koyanagi Y, Mizobuchi K, Hayashi T, Ito Y, Terasaki H, Nishiguchi KM, Ueno S. Miyagi M, et al. Graefes Arch Clin Exp Ophthalmol. 2022 Apr;260(4):1125-1137. doi: 10.1007/s00417-021-05447-y. Epub 2021 Oct 18. Graefes Arch Clin Exp Ophthalmol. 2022. PMID: 34661736
PURPOSE: To determine the characteristics of eyes diagnosed with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB) complicated by choroidal neovascularization (CNV). METHODS: This was a retrospective, multicenter obse …
PURPOSE: To determine the characteristics of eyes diagnosed with Best vitelliform macular dystrophy (BVMD) and autosoma …
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
Yang S, Li Z, Cheng W, Ma M, Qi R, Rui X, Ren Y, Sheng X, Rong W. Yang S, et al. Mol Genet Genomic Med. 2023 Jan;11(1):e2095. doi: 10.1002/mgg3.2095. Epub 2022 Nov 15. Mol Genet Genomic Med. 2023. PMID: 36378562 Free PMC article.
A total of 9 variants on the BEST1 gene were identified, containing 7 missense variants, 1 nonsense variant, and 1 frameshift variant, respectively, of which 3 variants c.88A > G (p.Lys30Glu), c.764G > A (p.Arg255Gln) and c.233dupT (p.Ser79Phefs*153) were nove …
A total of 9 variants on the BEST1 gene were identified, containing 7 missense variants, 1 nonsense variant, and 1 frameshift …
Clinical manifestations of cuticular drusen in Korean patients.
Shin DH, Kong M, Han G, Han JC, Ham DI. Shin DH, et al. Sci Rep. 2020 Jul 10;10(1):11469. doi: 10.1038/s41598-020-68493-2. Sci Rep. 2020. PMID: 32651454 Free PMC article.
Fundus distribution pattern, imaging features, and presence of large drusen, drusenoid pigment epithelial detachment (PED), and macular complications, including geographic atrophy (GA), choroidal neovascularization (CNV), and acquired vitelliform lesion (AVL), were …
Fundus distribution pattern, imaging features, and presence of large drusen, drusenoid pigment epithelial detachment (PED), and macular …
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging.
Liu T, Aguilera N, Bower AJ, Li J, Ullah E, Dubra A, Cukras C, Brooks BP, Jeffrey BG, Hufnagel RB, Huryn LA, Zein WM, Tam J. Liu T, et al. Invest Ophthalmol Vis Sci. 2022 Jul 8;63(8):27. doi: 10.1167/iovs.63.8.27. Invest Ophthalmol Vis Sci. 2022. PMID: 35900727 Free PMC article.
PURPOSE: To assess the structure of cone photoreceptors and retinal pigment epithelial (RPE) cells in vitelliform macular dystrophy (VMD) arising from various genetic etiologies. ...Overall, cones were affected to a greater extent than RPE in patients with IM …
PURPOSE: To assess the structure of cone photoreceptors and retinal pigment epithelial (RPE) cells in vitelliform macular d …
Clinical and imaging findings of pattern dystrophy subtypes; Diagnostic errors and unnecessary treatment in clinical practice.
Ozkaya A, Garip R, Nur Tarakcioglu H, Alkin Z, Taskapili M. Ozkaya A, et al. J Fr Ophtalmol. 2018 Jan;41(1):21-29. doi: 10.1016/j.jfo.2017.06.009. Epub 2017 Nov 28. J Fr Ophtalmol. 2018. PMID: 29195727
METHODS: Retrospective, observational study. Forty eyes of 24 patients with PD were included. ...RESULTS: Twenty-eight eyes (70%) showed adult-onset foveomacular vitelliform dystrophy, 6 eyes (15%) showed butterfly PD (BPD), 4 eyes (10%) showed reticular PD, …
METHODS: Retrospective, observational study. Forty eyes of 24 patients with PD were included. ...RESULTS: Twenty-eight eyes (70%) sho …
64 results