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Autosomal recessive bestrophinopathy(ARB)

MedGen UID:
854806
•Concept ID:
C3888198
•
Disease or Syndrome
Synonyms: ARB; BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
SNOMED CT: Retinopathy Burgess Black type (723828008); Autosomal recessive bestrophinopathy (723828008)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (Orphanet)
 
Gene (location): BEST1 (11q12.3)
 
Monarch Initiative: MONDO:0012733
OMIM®: 611809
Orphanet: ORPHA139455

Authors:

Clinical features

From HPO
Hypermetropia
MedGen UID:
43780
•Concept ID:
C0020490
•
Disease or Syndrome
An abnormality of refraction characterized by the ability to see objects in the distance clearly, while objects nearby appear blurry.
See: Feature record | Search on this feature
Reduced visual acuity
MedGen UID:
65889
•Concept ID:
C0234632
•
Finding
Diminished clarity of vision.
See: Feature record | Search on this feature
Retinal flecks
MedGen UID:
602327
•Concept ID:
C0423414
•
Finding
Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.
See: Feature record | Search on this feature
Decreased light- and dark-adapted electroretinogram amplitude
MedGen UID:
326793
•Concept ID:
C1839025
•
Finding
Decreased amplitude of eletrical response upon electroretinography.
See: Feature record | Search on this feature
Retinal pigment epithelial atrophy
MedGen UID:
333564
•Concept ID:
C1840457
•
Finding
Atrophy (loss or wasting) of the retinal pigment epithelium observed on fundoscopy or fundus imaging.
See: Feature record | Search on this feature

Professional guidelines

PubMed

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Nowomiejska K, Nasser F, Stingl K, Schimpf-Linzenbold S, Biskup S, Brzozowska A, Rejdak R, Kohl S, Zrenner E
Acta Ophthalmol 2022 May;100(3):e847-e858. Epub 2021 Jul 29 doi: 10.1111/aos.14958. PMID: 34327816Free PMC Article
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

Curated

Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).
Ramsden SC, Davidson AE, Leroy BP, Moore AT, Webster AR, Black GC, Manson FD
Eur J Hum Genet 2012 May;20(5) Epub 2012 Jan 11 doi: 10.1038/ejhg.2011.251. PMID: 22234150Free PMC Article

Recent clinical studies

Etiology

Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.
Zhao D, Gu VY, Wang Y, Peng J, Lyu J, Fei P, Xu Y, Zhang X, Zhao P
BMC Ophthalmol 2024 Jul 24;24(1):308. doi: 10.1186/s12886-024-03574-8. PMID: 39048936Free PMC Article
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
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
Ophthalmology 2021 May;128(5):706-718. Epub 2020 Oct 8 doi: 10.1016/j.ophtha.2020.10.006. PMID: 33039401Free PMC Article
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy.
Witsberger E, Marmorstein A, Pulido J
Asia Pac J Ophthalmol (Phila) 2019 Nov-Dec;8(6):469-475. doi: 10.1097/APO.0000000000000261. PMID: 31789649Free PMC Article
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

Diagnosis

Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.
Hemptinne C, Willermain F, de Jong C, Postolache L, Postelmans L
Ophthalmic Genet 2023 Jun;44(3):318-320. Epub 2022 Sep 4 doi: 10.1080/13816810.2022.2116649. PMID: 36062537
Macular Hole-Associated Retinal Detachment in Autosomal Recessive Bestrophinopathy.
Surve A, Pradeep P, Kumar V
Ophthalmol Retina 2021 Mar;5(3):278. doi: 10.1016/j.oret.2020.12.001. PMID: 33678430
Autosomal recessive bestrophinopathy with macular hole.
Hirawat RS, Nagesha CK, Divakar MM
Indian J Ophthalmol 2020 Jun;68(6):1173-1175. doi: 10.4103/ijo.IJO_1346_19. PMID: 32461465Free PMC Article
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
Arch Ophthalmol 2011 Aug;129(8):1088-93. doi: 10.1001/archophthalmol.2011.197. PMID: 21825197

Therapy

Subthreshold micropulse laser treatment for autosomal recessive bestrophinopathy complicated by macular neovascularization.
Buonamassa R, Palumbo F, Boscia G, Scotti G, Ferrara A, De Vitis F, Pignataro M, Termite AC, Landini L, Alessio G, Boscia F, Viggiano P
Eur J Ophthalmol 2025 Jan;35(1):NP50-NP53. Epub 2024 Oct 15 doi: 10.1177/11206721241291100. PMID: 39403020
Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.
Cideciyan AV, Jacobson SG, Sumaroka A, Swider M, Krishnan AK, Sheplock R, Garafalo AV, Guziewicz KE, Aguirre GD, Beltran WA, Matsui Y, Kondo M, Heon E
Vision Res 2023 Feb;203:108157. Epub 2022 Nov 28 doi: 10.1016/j.visres.2022.108157. PMID: 36450205Free PMC Article
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
Ophthalmology 2021 May;128(5):706-718. Epub 2020 Oct 8 doi: 10.1016/j.ophtha.2020.10.006. PMID: 33039401Free PMC Article
Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.
Hussain RN, Shahid FL, Empeslidis T, Ch'ng SW
Ophthalmic Genet 2015;36(3):265-9. doi: 10.3109/13816810.2014.962706. PMID: 25265375
Autosomal recessive bestrophinopathy associated with angle-closure glaucoma.
Crowley C, Paterson R, Lamey T, McLaren T, De Roach J, Chelva E, Khan J
Doc Ophthalmol 2014 Aug;129(1):57-63. Epub 2014 May 24 doi: 10.1007/s10633-014-9444-z. PMID: 24859690Free PMC Article

Prognosis

Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.
Zhao D, Gu VY, Wang Y, Peng J, Lyu J, Fei P, Xu Y, Zhang X, Zhao P
BMC Ophthalmol 2024 Jul 24;24(1):308. doi: 10.1186/s12886-024-03574-8. PMID: 39048936Free PMC Article
Macular neovascularization in inherited retinal diseases: A review.
Heath Jeffery RC, Chen FK
Surv Ophthalmol 2024 Jan-Feb;69(1):1-23. Epub 2023 Aug 6 doi: 10.1016/j.survophthal.2023.07.007. PMID: 37544613
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
Ophthalmology 2021 May;128(5):706-718. Epub 2020 Oct 8 doi: 10.1016/j.ophtha.2020.10.006. PMID: 33039401Free PMC Article
Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization.
Introini U, Casalino G, Khan KN, Eandi C, Alovisi C, Michaelides M, Bandello F
Ophthalmic Surg Lasers Imaging Retina 2018 Nov 1;49(11):888-892. doi: 10.3928/23258160-20181101-10. PMID: 30457648
Use of Intravitreal Bevacizumab in a 9-Year-Old Child with Choroidal Neovascularization Associated with Autosomal Recessive Bestrophinopathy.
Hussain RN, Shahid FL, Empeslidis T, Ch'ng SW
Ophthalmic Genet 2015;36(3):265-9. doi: 10.3109/13816810.2014.962706. PMID: 25265375

Clinical prediction guides

Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.
Tekin K, Dulger SC, Horozoglu Ceran T, Inanc M, Ozdal PC, Teke MY
J Fr Ophtalmol 2024 Jun;47(6):104097. Epub 2024 Mar 21 doi: 10.1016/j.jfo.2024.104097. PMID: 38518704
Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
Wang Y, Jiang Y, Li X, Xiao X, Li S, Sun W, Wang P, Zhang Q
Exp Eye Res 2022 Oct;223:109217. Epub 2022 Aug 13 doi: 10.1016/j.exer.2022.109217. PMID: 35973442
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
Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.
Hufendiek K, Hufendiek K, Jägle H, Stöhr H, Book M, Spital G, Rustambayova G, Framme C, Weber BHF, Renner AB, Kellner U
Int J Mol Sci 2020 Dec 8;21(24) doi: 10.3390/ijms21249353. PMID: 33302512Free PMC Article
Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy.
Witsberger E, Marmorstein A, Pulido J
Asia Pac J Ophthalmol (Phila) 2019 Nov-Dec;8(6):469-475. doi: 10.1097/APO.0000000000000261. PMID: 31789649Free PMC Article

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Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • EuroGentest, 2012
      Clinical utility gene card for: BEST1-related dystrophies (Bestrophinopathies).

    Reviews

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