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Year Number of Results
2008 1
2009 2
2011 2
2012 2
2013 2
2014 1
2015 2
2016 2
2017 4
2018 7
2019 7
2020 8
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2022 10
2023 11
2024 4

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57 results

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Page 1
Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.
Birtel J, Gliem M, Herrmann P, MacLaren RE, Bolz HJ, Charbel Issa P. Birtel J, et al. Ophthalmol Retina. 2020 May;4(5):523-529. doi: 10.1016/j.oret.2019.12.008. Epub 2020 Mar 5. Ophthalmol Retina. 2020. PMID: 32147488
PURPOSE: To demonstrate that peripapillary sparing on autofluorescence images is a characteristic feature of autosomal recessive bestrophinopathy (ARB). DESIGN: Retrospective, cross-sectional case series and review of previous published cases. ...
PURPOSE: To demonstrate that peripapillary sparing on autofluorescence images is a characteristic feature of autosomal recessive …
Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.
Casalino G, Khan KN, Armengol M, Wright G, Pontikos N, Georgiou M, Webster AR, Robson AG, Grewal PS, Michaelides M. Casalino G, et al. Ophthalmology. 2021 May;128(5):706-718. doi: 10.1016/j.ophtha.2020.10.006. Epub 2020 Oct 8. Ophthalmology. 2021. PMID: 33039401 Free PMC article.
PURPOSE: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopathy (ARB) in a large cohort of children and adults. ...
PURPOSE: To investigate the clinical course, genetic findings, and phenotypic spectrum of autosomal recessive bestrophinopa …
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Pfister TA, Zein WM, Cukras CA, Sen HN, Maldonado RS, Huryn LA, Hufnagel RB. Pfister TA, et al. Invest Ophthalmol Vis Sci. 2021 May 3;62(6):22. doi: 10.1167/iovs.62.6.22. Invest Ophthalmol Vis Sci. 2021. PMID: 34015078 Free PMC article.
PURPOSE: Autosomal recessive bestrophinopathy (ARB) and vitelliform macular dystrophy (VMD) are distinct phenotypes, typically inherited through recessive and dominant patterns, respectively. ...
PURPOSE: Autosomal recessive bestrophinopathy (ARB) and vitelliform macular dystrophy (VMD) are distinct phenotypes, ty …
Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ. Boon CJ, et al. Ophthalmology. 2013 Apr;120(4):809-20. doi: 10.1016/j.ophtha.2012.09.057. Epub 2013 Jan 3. Ophthalmology. 2013. PMID: 23290749
OBJECTIVE: To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy (ARB). DESIGN: Retrospective case series. ...Seven different mutations were detected, including 4 novel mutations. CONCLUSIONS: Autosomal …
OBJECTIVE: To describe the clinical and genetic characteristics of patients with autosomal recessive bestrophinopathy ( …
Autosomal recessive bestrophinopathy with macular hole.
Hirawat RS, Nagesha CK, Divakar MM. Hirawat RS, et al. Indian J Ophthalmol. 2020 Jun;68(6):1173-1175. doi: 10.4103/ijo.IJO_1346_19. Indian J Ophthalmol. 2020. PMID: 32461465 Free PMC article. No abstract available.
Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
Habibi I, Falfoul Y, Todorova MG, Wyrsch S, Vaclavik V, Helfenstein M, Turki A, Matri KE, Matri LE, Schorderet DF. Habibi I, et al. Genes (Basel). 2019 Nov 21;10(12):953. doi: 10.3390/genes10120953. Genes (Basel). 2019. PMID: 31766397 Free PMC article.
In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal recessive Bestrophinopathy (ARB), although rare, can be recognized by its phenotype and should be validated by molecular analysis. ...
In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits. Autosomal reces …
NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY.
Khan KN, Islam F, Holder GE, Robson A, Webster AR, Moore AT, Michaelides M. Khan KN, et al. Retina. 2018 Feb;38(2):379-386. doi: 10.1097/IAE.0000000000001523. Retina. 2018. PMID: 28590961 Free article.
Patients with Best disease or autosomal recessive bestrophinopathy who, after electrophysiologic testing, had a normal or atypical EOG light rise were identified. ...CONCLUSION: The current work provides significant clinical evidence that the EOG phenotype in …
Patients with Best disease or autosomal recessive bestrophinopathy who, after electrophysiologic testing, had a normal …
Childhood-onset autosomal recessive bestrophinopathy.
Borman AD, Davidson AE, O'Sullivan J, Thompson DA, Robson AG, De Baere E, Black GC, Webster AR, Holder GE, Leroy BP, Manson FD, Moore AT. Borman AD, et al. Arch Ophthalmol. 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. Arch Ophthalmol. 2011. PMID: 21825197 No abstract available.
Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy.
Lee JH, Oh JO, Lee CS. Lee JH, et al. Yonsei Med J. 2020 Sep;61(9):816-825. doi: 10.3349/ymj.2020.61.9.816. Yonsei Med J. 2020. PMID: 32882766 Free PMC article.
PURPOSE: To understand the pathophysiology of Best disease (BD) and autosomal recessive bestrophinopathy (ARB) by establishing an in vitro model using human induced pluripotent stem cell (iPSC). ...
PURPOSE: To understand the pathophysiology of Best disease (BD) and autosomal recessive bestrophinopathy (ARB) by estab …
Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient.
Zhao B, Chen L, Zhang P, He K, Lei M, Zhang J. Zhao B, et al. BMC Ophthalmol. 2023 Apr 11;23(1):151. doi: 10.1186/s12886-023-02905-5. BMC Ophthalmol. 2023. PMID: 37041514 Free PMC article.
BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that may affect multiple systems of the body. Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by autosomal recessively mutations in bestrophin 1 (BEST1) …
BACKGROUND: Neurofibromatosis type 1 (NF1) is a multisystem genetic disorder that may affect multiple systems of the body. Autosomal …
57 results