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BEST1-Related Disorders

MedGen UID:
893530
•Concept ID:
CN239200
•
Disease or Syndrome

Professional guidelines

PubMed

Allele-specific antisense oligonucleotides for the treatment of BEST1-related dominantly inherited retinal diseases: An in vitro model.
Karaosmanoglu B, Imren G, Utine E, Taylan Sekeroglu H, Taskiran EZ
Exp Eye Res 2024 Apr;241:109833. Epub 2024 Feb 16 doi: 10.1016/j.exer.2024.109833. PMID: 38369231
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
Ophthalmology 2013 Apr;120(4):809-20. Epub 2013 Jan 3 doi: 10.1016/j.ophtha.2012.09.057. PMID: 23290749

Recent clinical studies

Etiology

Allele-specific antisense oligonucleotides for the treatment of BEST1-related dominantly inherited retinal diseases: An in vitro model.
Karaosmanoglu B, Imren G, Utine E, Taylan Sekeroglu H, Taskiran EZ
Exp Eye Res 2024 Apr;241:109833. Epub 2024 Feb 16 doi: 10.1016/j.exer.2024.109833. PMID: 38369231
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I
Retina 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041. PMID: 29370033
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
Khan KN, Mahroo OA, Islam F, Webster AR, Moore AT, Michaelides M
Retina 2017 Jul;37(7):1360-1370. doi: 10.1097/IAE.0000000000001357. PMID: 27764019
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
Ophthalmology 2013 Apr;120(4):809-20. Epub 2013 Jan 3 doi: 10.1016/j.ophtha.2012.09.057. PMID: 23290749
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article

Diagnosis

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
Mol Genet Genomic Med 2023 Jan;11(1):e2095. Epub 2022 Nov 15 doi: 10.1002/mgg3.2095. PMID: 36378562Free PMC Article
Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.
Chowdhury S, Duvesh R, Kumaran M, Anjanamurthy R, Kumar J, Vanniarajan A, Devarajan B, Sundaresan P
Ophthalmic Genet 2022 Apr;43(2):191-200. Epub 2021 Nov 9 doi: 10.1080/13816810.2021.1998553. PMID: 34751623
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
Invest Ophthalmol Vis Sci 2021 May 3;62(6):22. doi: 10.1167/iovs.62.6.22. PMID: 34015078Free PMC Article
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
Khan KN, Mahroo OA, Islam F, Webster AR, Moore AT, Michaelides M
Retina 2017 Jul;37(7):1360-1370. doi: 10.1097/IAE.0000000000001357. PMID: 27764019
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
Ophthalmology 2013 Apr;120(4):809-20. Epub 2013 Jan 3 doi: 10.1016/j.ophtha.2012.09.057. PMID: 23290749

Prognosis

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
Mol Genet Genomic Med 2023 Jan;11(1):e2095. Epub 2022 Nov 15 doi: 10.1002/mgg3.2095. PMID: 36378562Free PMC Article
AUTOSOMAL DOMINANT VITREORETINOCHOROIDOPATHY: When Molecular Genetic Testing Helps Clinical Diagnosis.
Boulanger-Scemama E, Sahel JA, Mohand-Said S, Antonio A, Condroyer C, Zeitz C, Audo I
Retina 2019 May;39(5):867-878. doi: 10.1097/IAE.0000000000002041. PMID: 29370033
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
Khan KN, Mahroo OA, Islam F, Webster AR, Moore AT, Michaelides M
Retina 2017 Jul;37(7):1360-1370. doi: 10.1097/IAE.0000000000001357. PMID: 27764019
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article

Clinical prediction guides

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
Mol Genet Genomic Med 2023 Jan;11(1):e2095. Epub 2022 Nov 15 doi: 10.1002/mgg3.2095. PMID: 36378562Free PMC Article
Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.
Chowdhury S, Duvesh R, Kumaran M, Anjanamurthy R, Kumar J, Vanniarajan A, Devarajan B, Sundaresan P
Ophthalmic Genet 2022 Apr;43(2):191-200. Epub 2021 Nov 9 doi: 10.1080/13816810.2021.1998553. PMID: 34751623
FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.
Khan KN, Mahroo OA, Islam F, Webster AR, Moore AT, Michaelides M
Retina 2017 Jul;37(7):1360-1370. doi: 10.1097/IAE.0000000000001357. PMID: 27764019
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
Ophthalmology 2013 Apr;120(4):809-20. Epub 2013 Jan 3 doi: 10.1016/j.ophtha.2012.09.057. PMID: 23290749
BEST1-related autosomal dominant vitreoretinochoroidopathy: a degenerative disease with a range of developmental ocular anomalies.
Vincent A, McAlister C, Vandenhoven C, Héon E
Eye (Lond) 2011 Jan;25(1):113-8. Epub 2010 Nov 12 doi: 10.1038/eye.2010.165. PMID: 21072067Free PMC Article

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