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Items: 1 to 20 of 65

1.
Adult Onset Foveomacular Vitelliform Dystrophy Shows Genetic Overlap With Age-Related Macular Degeneration
Shlomit Jaskoll, Adi Kramer, Sarah Elbaz-Hayoun, Batya Rinsky, Chiara M. Eandi, Michelle Grunin, Yahel Shwartz, Liran Tiosano, Iris M. Heid, Thomas Winkler, Itay Chowers
Invest Ophthalmol Vis Sci. 2024 Nov; 65(13): 53. Published online 2024 Nov 25. doi: 10.1167/iovs.65.13.53
PMCID:
PMC11601137
AbstractArticlePDF–1005K
2.
Multimodal imaging analysis of autosomal recessive bestrophinopathy: Case series
Masahiro Miura, Shuichi Makita, Yoshiaki Yasuno, Shinnosuke Azuma, Toshihiro Mino, Takaaki Hayashi, Shuhei Kameya, Kazushige Tsunoda
Medicine (Baltimore) 2024 Jul 19; 103(29): e38853. Published online 2024 Jul 19. doi: 10.1097/MD.0000000000038853
PMCID:
PMC11398800
AbstractArticlePDF–1.2M
3.
Varied clinical presentations of RP1L1 variants in Chinese patients: a study of occult macular dystrophy and vitelliform macular dystrophy
Xiao Liu, Yanling Long, Yu Wang, Bo Liu, Jiayun Ren, Gang wang, Min Wang, Xiaohong Meng, Yong Liu
BMC Ophthalmol. 2024; 24: 327. Published online 2024 Aug 6. doi: 10.1186/s12886-024-03591-7
PMCID:
PMC11302074
AbstractArticlePDF–3.8M
4.
Elaborate Evaluation of Farnsworth Dichotomous D-15 Panel Test Can Help Differentiate between Best Vitelliform Macular Dystrophy and Autosomal Recessive Bestrophinopathy
Katarzyna Nowomiejska, Fadi Nasser, Agnieszka Brzozowska, Robert Rejdak, Eberhart Zrenner
Ophthalmic Res. Author manuscript; available in PMC 2024 Jun 4.
Published in final edited form as: Ophthalmic Res. 2023; 66(1): 481–488. Published online 2023 Jan 12. doi: 10.1159/000528615
PMCID:
PMC11149457
AbstractArticlePDF–551K
5.
Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights
Lorenzo Bianco, Alessandro Arrigo, Alessio Antropoli, Alessandro Berni, Andrea Saladino, Manuel AP Vilela, Ahmad M Mansour, Francesco Bandello, Maurizio Battaglia Parodi
Eur J Ophthalmol. 2024 Jan; 34(1): 39–51. Published online 2023 Mar 27. doi: 10.1177/11206721231166434
PMCID:
PMC10757402
AbstractArticlePDF–7.3M
6.
Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases
Yuqin Liang, Xihao Sun, Chunwen Duan, Shibo Tang, Jiansu Chen
Stem Cell Res Ther. 2023; 14: 340. Published online 2023 Nov 27. doi: 10.1186/s13287-023-03564-5
PMCID:
PMC10683306
AbstractArticlePDF–1.4M
7.
Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report
Jie Shi, Tengyang Sun, Ke Xu, Xin Zhang, Yang Li
BMC Ophthalmol. 2023; 23: 165. Published online 2023 Apr 19. doi: 10.1186/s12886-023-02915-3
PMCID:
PMC10114320
AbstractArticlePDF–1.8M
8.
CRISPR/Cas9 mediated specific ablation of vegfa in retinal pigment epithelium efficiently regresses choroidal neovascularization
Jinkyu Park, Gang Cui, Hyundong Lee, Han Jeong, Jay Jiyong Kwak, Junwon Lee, Suk Ho Byeon
Sci Rep. 2023; 13: 3715. Published online 2023 Mar 6. doi: 10.1038/s41598-023-29014-z
PMCID:
PMC9988861
AbstractArticlePDF–2.1M
9.
RPE-Directed Gene Therapy Improves Mitochondrial Function in Murine Dry AMD Models
Sophia Millington-Ward, Naomi Chadderton, Laura K. Finnegan, Iris J. M. Post, Matthew Carrigan, Rachel Nixon, Marian M. Humphries, Pete Humphries, Paul F. Kenna, Arpad Palfi, G. Jane Farrar
Int J Mol Sci. 2023 Feb; 24(4): 3847. Published online 2023 Feb 14. doi: 10.3390/ijms24043847
PMCID:
PMC9968062
AbstractArticlePDF–3.1M
10.
BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity
Shangying Yang, Zhen Li, Wanyu Cheng, Meijiao Ma, Rui Qi, Xue Rui, Yinghua Ren, Xunlun Sheng, Weining Rong
Mol Genet Genomic Med. 2023 Jan; 11(1): e2095. Published online 2022 Nov 15. doi: 10.1002/mgg3.2095
PMCID:
PMC9834154
AbstractArticlePDF–10M
11.
Photoreceptor and Retinal Pigment Epithelium Relationships in Eyes With Vitelliform Macular Dystrophy Revealed by Multimodal Adaptive Optics Imaging
Tao Liu, Nancy Aguilera, Andrew J. Bower, Joanne Li, Ehsan Ullah, Alfredo Dubra, Catherine Cukras, Brian P. Brooks, Brett G. Jeffrey, Robert B. Hufnagel, Laryssa A. Huryn, Wadih M. Zein, Johnny Tam
Invest Ophthalmol Vis Sci. 2022 Jul; 63(8): 27. Published online 2022 Jul 28. doi: 10.1167/iovs.63.8.27
PMCID:
PMC9344216
AbstractArticlePDF–5.2M
12.
Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies
Katarzyna Nowomiejska, Fadi Nasser, Katarina Stingl, Simone Schimpf-Linzenbold, Saskia Biskup, Agnieszka Brzozowska, Robert Rejdak, Susanne Kohl, Eberhart Zrenner
Acta Ophthalmol. Author manuscript; available in PMC 2022 Jul 27.
Published in final edited form as: Acta Ophthalmol. 2022 May; 100(3): e847–e858. Published online 2021 Jul 29. doi: 10.1111/aos.14958
PMCID:
PMC9328113
AbstractArticlePDF–830K
13.
Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD)
Emanuele Crincoli, Zhanlin Zhao, Giuseppe Querques, Riccardo Sacconi, Matteo Maria Carlà, Federico Giannuzzi, Silvia Ferrara, Nicolò Ribarich, Gaia L’Abbate, Stanislao Rizzo, Eric H. Souied, Alexandra Miere
Sci Rep. 2022; 12: 12745. Published online 2022 Jul 26. doi: 10.1038/s41598-022-16980-z
PMCID:
PMC9325755
AbstractArticlePDF–1.7M
14.
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration
Dae Joong Ma, Hyun-Seob Lee, Kwangsoo Kim, Seongmin Choi, Insoon Jang, Seo-Ho Cho, Chang Ki Yoon, Eun Kyoung Lee, Hyeong Gon Yu
BMC Med Genomics. 2021; 14: 74. Published online 2021 Mar 10. doi: 10.1186/s12920-021-00874-6
PMCID:
PMC7945660
AbstractArticlePDF–4.5M
15.
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene
Karsten Hufendiek, Katerina Hufendiek, Herbert Jägle, Heidi Stöhr, Marius Book, Georg Spital, Günay Rustambayova, Carsten Framme, Bernhard H. F. Weber, Agnes B. Renner, Ulrich Kellner
Int J Mol Sci. 2020 Dec; 21(24): 9353. Published online 2020 Dec 8. doi: 10.3390/ijms21249353
PMCID:
PMC7763028
AbstractArticlePDF–4.4M
16.
Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium
Jingshu Liu, Rachel L. Taylor, Richard A. Baines, Lisa Swanton, Sally Freeman, Barbara Corneo, Achchhe Patel, Alan Marmorstein, Travis Knudsen, Graeme C. Black, Forbes Manson
Invest Ophthalmol Vis Sci. 2020 May; 61(5): 28. Published online 2020 May 18. doi: 10.1167/iovs.61.5.28
PMCID:
PMC7405785
AbstractArticlePDF–1.3M
17.
Proteoglycan IMPG2 Shapes the Interphotoreceptor Matrix and Modulates Vision
Ezequiel M. Salido, Visvanathan Ramamurthy
J Neurosci. 2020 May 13; 40(20): 4059–4072. doi: 10.1523/JNEUROSCI.2994-19.2020
Correction in:
J Neurosci. 2020 Aug 19; 40(34): 6660.
PMCID:
PMC7219290
AbstractArticlePDF–18M
18.
Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations
Mital Shah, Suzanne Broadgate, Morag Shanks, Penny Clouston, Jing Yu, Robert E. MacLaren, Andrea H. Németh, Stephanie Halford, Susan M. Downes
JAMA Ophthalmol. 2020 May; 138(5): 544–551. Published online 2020 Apr 2. doi: 10.1001/jamaophthalmol.2020.0666
PMCID:
PMC7118667
AbstractArticle
19.
Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies
Anna-Lena Nachtigal, Andrea Milenkovic, Caroline Brandl, Heidi L. Schulz, Lisa M. J. Duerr, Gabriele E. Lang, Charlotte Reiff, Philipp Herrmann, Ulrich Kellner, Bernhard H.F. Weber
Int J Mol Sci. 2020 Mar; 21(5): 1597. Published online 2020 Feb 26. doi: 10.3390/ijms21051597
PMCID:
PMC7084480
AbstractArticlePDF–4.8M
20.
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)
Imen Habibi, Yosra Falfoul, Margarita G. Todorova, Stefan Wyrsch, Veronika Vaclavik, Maria Helfenstein, Ahmed Turki, Khaled El Matri, Leila El Matri, Daniel F. Schorderet
Genes (Basel) 2019 Dec; 10(12): 953. Published online 2019 Nov 21. doi: 10.3390/genes10120953
Correction in:
Genes (Basel). 2020 May; 11(5): 503.
PMCID:
PMC6947566
AbstractArticlePDF–2.5M

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