Research & Literature

Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.

Matson ME, Ly SV, Monarrez JL

Optometry and vision science : official publication of the American Academy of Optometry 2015; (92(8)):e180-9 doi:10.1097/OPX.0000000000000639.

BEST1: the Best Target for Gene and Cell Therapies.

Yang T, Justus S, Li Y, Tsang SH

Molecular therapy : the journal of the American Society of Gene Therapy 2015; (23(12)):1805-9 doi:10.1038/mt.2015.177.

Contribution of Ion Channels in Calcium Signaling Regulating Phagocytosis: MaxiK, Cav1.3 and Bestrophin-1.

Strauß O, Reichhart N, Gomez NM, Müller C

Advances in experimental medicine and biology 2016; (854()):739-44 doi:10.1007/978-3-319-17121-0_98.

[Optical coherence tomography and fundus autofluorescence in Best macular dystrophy].

Chebil A, Charfi H, Largueche L, El Matri L

Journal francais d'ophtalmologie 2016; (39(6)):543-8.

Optical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.

Qian CX, Charran D, Strong CR, et al.

Ophthalmology 2017; (124(4)):456-463 doi:10.1016/j.ophtha.2016.11.022.

Optical coherence tomography in Best vitelliform macular dystrophy.

Battaglia Parodi M, Iacono P, Romano F, et al.

European journal of ophthalmology 2017; (27(2)):201-204 doi:10.5301/ejo.5000878.

OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY FOR THE DETECTION OF SECONDARY CHOROIDAL NEOVASCULARIZATION IN VITELLIFORM MACULAR DYSTROPHY.

Stattin M, Ahmed D, Glittenberg C, et al.

Retinal cases & brief reports 2020; (14(1)):49-52 doi:10.1097/ICB.0000000000000626.

BEST1 gene therapy corrects a diffuse retina-wide microdetachment modulated by light exposure.

Guziewicz KE, Cideciyan AV, Beltran WA, et al.

Proceedings of the National Academy of Sciences of the United States of America 2018; (115(12)):E2839-E2848 doi:10.1073/pnas.1720662115.

NOVEL BEST1 MUTATIONS DETECTED BY NEXT-GENERATION SEQUENCING IN A CHINESE POPULATION WITH VITELLIFORM MACULAR DYSTROPHY.

Guo J, Gao F, Tang W, et al.

Retina (Philadelphia, Pa.) 2019; (39(8)):1613-1622 doi:10.1097/IAE.0000000000002183.

Fibrotic pillar leads to focal choroidal excavation in Best vitelliform dystrophy.

Kumar V, Chatra K

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie 2018; (256(11)):2083-2087 doi:10.1007/s00417-018-4120-8.

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.

Gao T, Tian C, Hu Q, et al.

BioMed research international 2018; (2018()):4582816 doi:10.1155/2018/4582816.

Childhood-Onset Schizophrenia: Insights from Induced Pluripotent Stem Cells.

Hoffmann A, Ziller M, Spengler D

International journal of molecular sciences 2018; (19(12)) doi:10.3390/ijms19123829.

Best Vitelliform Macular Dystrophy.

Tsang SH, Sharma T

Advances in experimental medicine and biology 2018; (1085()):79-90 doi:10.1007/978-3-319-95046-4_16.

Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization.

Al-Abri M, Al-Hinai A, Al Zuhaibi S, et al.

Oman journal of ophthalmology 2019; (12(1)):37-41 doi:10.4103/ojo.OJO_74_2018.

Outer Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.

Augstburger E, Orès R, Mohand-Said S, et al.

American journal of ophthalmology 2019; (208()):429-437 doi:10.1016/j.ajo.2019.08.011.

A Case of Best Disease Accompanied by Pachychoroid Neovasculopathy

Batıoğlu F, Yanık Ö, Demirel S, et al.

Turkish journal of ophthalmology 2019; (49(4)):226-229 doi:10.4274/tjo.galenos.2019.38073.

Investigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.

Ji C, Li Y, Kittredge A, et al.

Scientific reports 2019; (9(1)):19026 doi:10.1038/s41598-019-54892-7.

Inhibition of Ca2+ channel surface expression by mutant bestrophin-1 in RPE cells.

Cordes M, Bucichowski P, Alfaar AS, et al.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology 2020; (34(3)):4055-4071 doi:10.1096/fj.201901202RR.

"Novel p.Tyr284Cys BEST1 genotype-phenotype correlations of Vitelliform Macular Dystrophy in a family with incomplete penetrance".

Garza-Garza LA, León-Cachón RBR, Aguirre-Garza M, Garza-Leon M

Ophthalmic genetics 2020; (41(2)):183-188 doi:10.1080/13816810.2020.1744020.

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Shah M, Broadgate S, Shanks M, et al.

JAMA ophthalmology 2020; (138(5)):544-551 doi:10.1001/jamaophthalmol.2020.0666.

SHORT-TERM MODIFICATIONS OF ELLIPSOID ZONE IN BEST VITELLIFORM MACULAR DYSTROPHY.

Romano F, Arrigo A, Leone PP, et al.

Retina (Philadelphia, Pa.) 2021; (41(5)):1010-1017 doi:10.1097/IAE.0000000000002977.

Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.

Carlson-Stevermer J, Das A, Abdeen AA, et al.

Nature communications 2020; (11(1)):6277 doi:10.1038/s41467-020-20065-8.

Distinct expression requirements and rescue strategies for BEST1 loss- and gain-of-function mutations.

Zhao Q, Kong Y, Kittredge A, et al.

eLife 2021; (10()).

Stage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.

Jauregui R, Parmann R, Nuzbrokh Y, et al.

Scientific reports 2021; (11(1)):14300 doi:10.1038/s41598-021-93316-3.

Intravitreal bevacizumab treatment for exudative choroidal neovascularisation in best vitelliform macular dystrophy.

Jarc-Vidmar M, Sega R, Jaki-Mekjavic P

European journal of ophthalmology 2021; 11206721211057684 doi:10.1177/11206721211057684.

Correlation of features on OCT with visual acuity and Gass lesion type in Best vitelliform macular dystrophy.

Coussa RG, Fortenbach CR, Critser DB, et al.

BMJ open ophthalmology 2021; (6(1)):e000860 doi:10.1136/bmjophth-2021-000860.

First Pediatric Case of Autosomal Recessive Homozygotic Bestrophinopathy due to Homozygous Mutation c.187G>C p. in Two Brothers.

Bittmann S, Luchter E, Villalon G, et al.

Journal of clinical medicine research 2022; (14(4)):174-176 doi:10.14740/jocmr4709.

Choroidal Neovascularization Associated with Best Vitelliform Macular Dystrophy.

Adiyeke SK, Ture G

Beyoglu eye journal 2022; (7(2)):103-108 doi:10.14744/bej.2022.54376.

A pathogenic in-frame deletion-insertion variant in BEST1 phenocopies Stargardt disease.

Kolesnikova M, Oh JK, Wang J, et al.

JCI insight 2022; (7(23)).

Photoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations.

Cideciyan AV, Jacobson SG, Swider M, et al.

Investigative ophthalmology & visual science 2022; (63(13)):12 doi:10.1167/iovs.63.13.12.

Choroidal Neovascularization Is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution.

Han IC, Coussa RG, Mansoor M, et al.

Ophthalmology. Retina 2023; (7(5)):441-449 doi:10.1016/j.oret.2022.11.014.

Multimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.

Bianco L, Arrigo A, Antropoli A, et al.

European journal of ophthalmology 2024; (34(1)):39-51 doi:10.1177/11206721231166434.

Autosomal recessive bestrophinopathy combined with neurofibromatosis type 1 in a patient.

Zhao B, Chen L, Zhang P, et al.

BMC ophthalmology 2023; (23(1)):151 doi:10.1186/s12886-023-02905-5.

The pseudohypopyon stage in adult-onset foveomacular vitelliform dystrophy.

Shmueli O, Lender R, Shwartz Y, et al.

International ophthalmology 2023; (43(9)):3107-3113 doi:10.1007/s10792-023-02710-5.

Fixation Location and Stability in Best Vitelliform Macular Dystrophy.

Bianco L, Arrigo A, Marchese A, et al.

Ophthalmology science 2023; (3(4)):100329 doi:10.1016/j.xops.2023.100329.

Modeling Retinitis Pigmentosa with Patient-Derived iPSCs.

Leong YC, Sowden JC

Advances in experimental medicine and biology 2023; (1415()):555-563 doi:10.1007/978-3-031-27681-1_81.

Vitreoretinal Procedures in Patients with Inherited Retinal Disease.

Fenner BJ, Jamshidi F, Bhuyan R, et al.

Ophthalmology. Retina 2024; (8(3)):307-309 doi:10.1016/j.oret.2023.10.020.

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.

Laich Y, Georgiou M, Fujinami K, et al.

Ophthalmology 2024; (131(7)):845-854 doi:10.1016/j.ophtha.2024.01.027.

Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.

Tekin K, Dulger SC, Horozoglu Ceran T, et al.

Journal francais d'ophtalmologie 2024; (47(6)):104097 doi:10.1016/j.jfo.2024.104097.

Canine Best disease as a translational model.

Aguirre GD, Beltran WA

Eye (London, England) 2025; (39(3)):412-417 doi:10.1038/s41433-024-03578-0.

Phenotype and genetic spectrum of six Indian patients with bestrophinopathy.

Shakeel A, Bhatt DM, Gopal L, et al.

Taiwan journal of ophthalmology 2024; (14(4)):602-608 doi:10.4103/tjo.TJO-D-24-00080.

Best Vitelliform Macular Dystrophy Natural History Study Report 2: Fundus Autofluorescence and OCT.

Laich Y, Georgiou M, Fujinami K, et al.

Ophthalmology. Retina 2025; (9(9)):899-907 doi:10.1016/j.oret.2025.03.004.

The pentameric chloride channel BEST1 is activated by extracellular GABA.

Pant S, Tam SW, Long SB

Proceedings of the National Academy of Sciences of the United States of America 2025; (122(16)):e2424474122 doi:10.1073/pnas.2424474122.

A spontaneous nonhuman primate model of inherited retinal degeneration.

Yi W, Xu M, Xue Y, et al.

JCI insight 2025; (10(12)).

Clinical and Genetic Features of Autosomal Recessive Bestrophinopathy: A Case Series from a Vietnamese Cohort.

Nguyen TTT, Tran VK, Nguyen NL, et al.

Biomedicines 2025; (13(7)) doi:10.3390/biomedicines13071625.

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

Bitan J, Poncet AF, Lecigne C, et al.

Investigative ophthalmology & visual science 2025; (66(12)):4 doi:10.1167/iovs.66.12.4.