Home / Deep Research / BEST1 Bestrophinopathies

BEST1 Bestrophinopathies

1. Disease Information

2026-04-04
Falcon MONDO:0000390 Model: Edison Scientific Literature 47 citations

1. Disease Information

1.1 What is the disease?

BEST1 bestrophinopathies are a group of autosomal dominant and autosomal recessive inherited retinal diseases (IRDs) caused by pathogenic variants in BEST1, most prominently manifesting as Best vitelliform macular dystrophy (BVMD; “Best disease”) and autosomal recessive bestrophinopathy (ARB), but also including ADVIRC, adult-onset vitelliform phenotypes, and BEST1‑associated retinitis pigmentosa. These conditions share a central theme of retinal pigment epithelium (RPE) dysfunction with characteristic subretinal material (vitelliform deposits and/or fluid) and frequent electro‑oculogram (EOG) abnormalities. (bianco2024multimodalimagingin pages 1-2, amato2023genetherapyin pages 2-3)

Concise overview (current understanding): BEST1 dysfunction perturbs RPE ion/fluid homeostasis and calcium‑regulated physiology; clinically this produces vitelliform lesions, subretinal/intraretinal fluid, abnormal EOG light rise, and progressive macular/retinal degeneration with variable severity and inheritance. (amato2023genetherapyin pages 1-2, khan2018normalelectrooculographyin pages 9-13)

1.2 Key identifiers (as available in evidence)

The retrieved evidence explicitly provides the following MIM/OMIM identifiers: - BVMD / Best disease: MIM #153700 (bianco2024multimodalimagingin pages 1-2) - BEST1 gene: MIM #607854 (bianco2024multimodalimagingin pages 1-2) - Autosomal recessive bestrophinopathy (ARB): OMIM 611809 (zhao2024clinicalandgenetic pages 1-2) - ADVIRC: MIM #193220 (bianco2024multimodalimagingin pages 1-2) - BEST1-associated retinitis pigmentosa: MIM #613194 (bianco2024multimodalimagingin pages 1-2) - Adult-onset vitelliform macular degeneration: OMIM 608161 (zhao2024clinicalandgenetic pages 1-2)

MONDO / Orphanet / ICD‑10/ICD‑11 / MeSH: Not available in the retrieved text evidence set; therefore, specific IDs cannot be asserted here without adding new database retrieval. (No relevant evidence found in provided corpus)

1.3 Synonyms and alternative names

1.4 Evidence source type

Information summarized here is derived from: - Aggregated disease-level resources in the form of cohort studies and reviews (e.g., imaging review, prevalence analysis) (bianco2024multimodalimagingin pages 1-2, beryozkin2024bestdiseaseglobal pages 1-2) - Primary human cohort/case series studies (e.g., ARB cohorts in China; BVMD/ARB clinical series) (zhao2024clinicalandgenetic pages 1-2, shi2023comprehensivegeneticanalysis pages 5-8) - Preclinical animal and in vitro models (canine models; iPSC‑RPE) (amato2023genetherapyin pages 6-7, khan2018normalelectrooculographyin pages 9-13)

2. Etiology

2.1 Disease causal factors

Primary cause: Germline pathogenic variants in BEST1. The BEST1 gene encodes bestrophin‑1, a homopentameric Ca2+-activated anion (chloride) channel expressed in RPE, and BEST1 pathogenic variants cause a phenotypic spectrum collectively termed “bestrophinopathies.” (amato2023genetherapyin pages 1-2, amato2023genetherapyin pages 2-3)

2.2 Risk factors

Genetic risk factors

Environmental/lifestyle risk factors

The retrieved evidence does not provide robust epidemiologic environmental risk factors (e.g., smoking/diet/exposures). The conditions are primarily genetic with variable expressivity; modifiers are suspected but not quantified here. (khan2018normalelectrooculographyin pages 9-13)

2.3 Protective factors

No specific genetic or environmental protective factors were identified in the retrieved evidence corpus.

2.4 Gene–environment interactions

The retrieved evidence supports the concept that phenotype is variable and may involve modifiers, but does not provide a specific, validated gene–environment interaction. (khan2018normalelectrooculographyin pages 9-13)

3. Phenotypes

3.1 Major phenotype domains (with suggested HPO terms)

Below are common clinical phenotypes across the BEST1 spectrum. HPO term suggestions are provided as likely mappings.

  1. Vitelliform subretinal lesions / deposits (fundus “egg‑yolk” lesion; multifocal yellow deposits)
  2. Evidence: classic BVMD “egg‑yolk” lesion; ARB multifocal deposits throughout posterior pole/peripapillary region. (beryozkin2024bestdiseaseglobal pages 1-2, zhao2024clinicalandgenetic pages 1-2)

  3. Suggested HPO: Vitelliform macular dystrophy (HP:0007757); Macular lesion (HP:0001103); Retinal flecks (HP:0001086)

  4. Subretinal fluid and intraretinal cystic/schitic spaces (especially ARB)

  5. Evidence: ARB OCT findings include subretinal fluid and intraretinal cystic/schitic spaces; changes may fluctuate longitudinally. (shakeel2024phenotypeandgenetic pages 2-3, cideciyan2023photoreceptorfunctionand pages 6-8)

  6. Suggested HPO: Subretinal fluid (HP:0031889); Cystoid macular edema (HP:0000605); Retinoschisis (HP:0000579)

  7. Abnormal electro‑oculogram (EOG) Arden ratio / reduced light peak

  8. Evidence: EOG abnormality is a hallmark in BVMD/ARB; however normal EOG can occur in a minority (e.g., Arden ratio >1.65 in 8% in one large series). (amato2023genetherapyin pages 2-3)

  9. Suggested HPO: Abnormal electrooculogram (HP:0025206) (term may vary by HPO release)

  10. Visual acuity impairment / central vision loss

  11. Evidence: BVMD can progress from normal fundus to lesion disruption and atrophy with visual decline; ARB can range broadly in acuity. (beryozkin2024bestdiseaseglobal pages 1-2, zhao2024clinicalandgenetic pages 1-2)

  12. Suggested HPO: Reduced visual acuity (HP:0007663); Central scotoma (HP:0000603)

  13. Macular neovascularization / choroidal neovascularization (CNV/CNVM)

  14. Evidence: OCTA detects CNVs in many BVMD eyes; nonexudative CNVs are often reported. Real-world anti‑VEGF treatment for CNV is described in cohorts/case series. (amato2023genetherapyin pages 2-3, shakeel2024phenotypeandgenetic pages 2-3)

  15. Suggested HPO: Choroidal neovascularization (HP:0007701)

  16. Angle-closure glaucoma predisposition (especially ARB with short axial length/narrow angles)

  17. Evidence: ARB cohort shows frequent shallow anterior chamber/narrow angles; misdiagnosis as angle-closure glaucoma common; preventive iridotomy and glaucoma surgeries used. (zhao2024clinicalandgenetic pages 1-2)
  18. Suggested HPO: Angle-closure glaucoma (HP:0001132); Shallow anterior chamber (HP:0000594); Short axial length (HP:0000568)

3.2 Phenotype characteristics (age of onset, severity, progression)

3.3 Quality of life impact

The retrieved evidence does not provide formal QoL instrument results (e.g., EQ‑5D, VFQ‑25). However, progressive central vision loss and macular atrophy logically impair reading/driving and daily functioning; this should be confirmed with disease-specific QoL studies not present in the current corpus. (No direct QoL evidence in retrieved texts)

4. Genetic / Molecular Information

4.1 Causal gene

4.2 Pathogenic variant spectrum and classification

Variant types

Mechanistic classes (current understanding)

BEST1 pathogenic variants are described in mechanistic categories: - Loss-of-function (LOF) - Dominant-negative (DN) (enabled by pentameric co-assembly, “poisoning” WT complexes) - Gain-of-function (GOF) (less common; may require silencing + augmentation) Gene therapy design implications follow from this classification. (amato2023genetherapyin pages 4-6, amato2023genetherapyin pages 1-2)

4.3 Allele frequency / founder variants (examples)

4.4 Modifier genes / epigenetics / chromosomal abnormalities

No validated modifier genes, epigenetic alterations, or chromosomal abnormalities were identified in the retrieved evidence set.

5. Environmental Information

No clear non-genetic causal environmental exposures were identified in the retrieved evidence. BEST1 bestrophinopathies are primarily genetic. (amato2023genetherapyin pages 2-3)

6. Mechanism / Pathophysiology

6.1 Molecular function and causal chain

Upstream trigger: pathogenic BEST1 variant → altered bestrophin‑1 channel quantity/function.

Core molecular role: bestrophin‑1 is a Ca2+-activated anion (Cl−) channel in RPE; its activity contributes to RPE electrophysiology and the EOG light rise. (amato2023genetherapyin pages 2-3, khan2018normalelectrooculographyin pages 9-13)

Proposed downstream steps (integrated from human and iPSC‑RPE evidence): 1. BEST1 dysfunction perturbs RPE chloride conductance and Ca2+-dependent physiology, including ER calcium handling/store-dependent signaling. (khan2018normalelectrooculographyin pages 9-13, amato2023genetherapyin pages 7-8) 2. Altered Ca2+ homeostasis affects multiple RPE processes (reported/implicated): photoreceptor outer segment (POS) phagocytosis, pigment granule migration, and membrane potential dynamics. (khan2018normalelectrooculographyin pages 9-13) 3. RPE support failure contributes to accumulation of subretinal material, fluid dysregulation (subretinal/intraretinal fluid), and progressive outer retinal disruption leading to photoreceptor dysfunction/degeneration and macular atrophy. (boon2009clinicalandmolecular pages 11-13, pfister2021phenotypicandgenetic pages 1-2)

6.2 Structural biology and pharmacologic modulation (2024 development)

Owji et al. (Nature Communications, Dec 2024) solved ligand-bound bestrophin structures and identified an extracellular positive allosteric site where PABA (4-aminobenzoic acid) binds (same site as GABA in Best2). PABA activates Best1 with EC50 ~192 nM and can rescue currents of multiple patient-derived dominant LOF Best1 mutants (A10T, R218H, L234P, A243T, Q293K, D302A) in co-expression experiments. This provides a mechanistically grounded small-molecule strategy complementary to gene therapy approaches. (owji2024neurotransmitterboundbestrophinchannel pages 5-6, owji2024neurotransmitterboundbestrophinchannel pages 1-2)

6.3 Suggested ontology terms

GO Biological Process (suggested): - Chloride transmembrane transport (GO:1902476) - Calcium ion homeostasis (GO:0055074) - Phagocytosis (GO:0006909) - Visual perception (GO:0007601)

GO Cellular Component (suggested): - Basolateral plasma membrane (GO:0016323) - Endoplasmic reticulum membrane (GO:0005789)

Cell types (CL terms, suggested): - Retinal pigment epithelial cell (CL:0002584) - Rod photoreceptor cell (CL:0000740) - Cone photoreceptor cell (CL:0000742)

7. Anatomical Structures Affected

7.1 Organ/system level

Primary system: Eye / visual system, with disease centered on: - Retina, especially macula (BVMD) and broader posterior pole involvement (ARB). (beryozkin2024bestdiseaseglobal pages 1-2, zhao2024clinicalandgenetic pages 1-2)

7.2 Tissue/cell level

  • Retinal pigment epithelium (RPE) is the key primary affected tissue/cell type (BEST1 expression and electrophysiologic signature). (amato2023genetherapyin pages 1-2)

7.3 Subcellular localization

Suggested UBERON terms: - Retina (UBERON:0000966) - Macula lutea (UBERON:0001807) - Retinal pigment epithelium (UBERON:0001994) - Anterior chamber of eye (UBERON:0001769) (relevant to ARB angle closure predisposition)

8. Temporal Development

8.1 Onset

8.2 Progression

  • Generally slowly progressive, with central photoreceptors often viable for decades, supporting a long interventional window. (amato2023genetherapyin pages 2-3)

9. Inheritance and Population

9.1 Inheritance patterns

9.2 Epidemiology (statistics from recent sources)

10. Diagnostics

10.1 Core clinical tests and typical findings

10.2 Differential diagnosis and diagnostic pitfalls

11. Outcome / Prognosis

11.1 Vision outcomes

  • BVMD prognosis is variable; many younger patients retain good acuity, but later stages with atrophy/fibrosis reduce acuity. Quantitative visual outcomes in one review: 75% <40 years retain ≥20/40 (≥1 eye) while 75% >30 years have ≤20/100 (≥1 eye). (bianco2024multimodalimagingin pages 1-2)

11.2 Prognostic factors

Specific prognostic biomarkers are not established in the retrieved evidence; however, multimodal imaging (OCT staging, ellipsoid zone integrity, neovascularization status) is emphasized for monitoring and prognostication. (bianco2024multimodalimagingin pages 1-2)

12. Treatment

12.1 Current real-world management

No approved disease-modifying pharmacotherapy is established in the retrieved evidence; management focuses on monitoring and treating complications.

Complication-directed care: - Anti-VEGF therapy for CNV/CNVM (e.g., bevacizumab, conbercept) is used when neovascular complications occur. (shakeel2024phenotypeandgenetic pages 2-3, zhao2024clinicalandgenetic pages 2-4) - Angle-closure risk management in ARB: preventive laser peripheral iridotomy and glaucoma surgery (trabeculectomy + iridotomy) were used in a 2024 cohort. (zhao2024clinicalandgenetic pages 1-2, zhao2024clinicalandgenetic pages 2-4)

Suggested MAXO terms (examples): - Anti-VEGF therapy (MAXO:0001298) (term label may vary) - Laser peripheral iridotomy (MAXO term not confirmed in evidence) - Trabeculectomy (MAXO term not confirmed in evidence) - Genetic counseling (MAXO:0000079) (term label may vary)

12.2 Advanced therapeutics and latest research (2023–2024 prioritized)

Gene therapy / gene augmentation (preclinical → clinical)

Preclinical gene augmentation in canine models shows lesion reversal after subretinal AAV delivery with sustained effects up to 245 weeks and no inflammatory response in reported experiments, supporting a translational basis for human trials. (amato2023genetherapyin pages 6-7)

Small-molecule channel activation (Dec 2024)

PABA and related small molecules activate Best1 and can rescue currents for multiple dominant LOF mutants in vitro, suggesting a potential pharmacologic approach for dominant LOF bestrophinopathies. (owji2024neurotransmitterboundbestrophinchannel pages 5-6)

12.3 Clinical trials and real-world implementations

  • NCT05809635 (started 2021-03-30; recruiting): Prospective natural history study for BEST1 vitelliform macular dystrophy; endpoints include OCT, FAF, NIR-AF, qAF, EOG, ERG, perimetry, etc., to define sensitive outcome measures for future clinical trials. (NCT05809635 chunk 1)
  • NCT07185256 (Opus Genetics; 2025; recruiting): Interventional study of subretinal OPGx-BEST1 in BVMD or ARB; includes patient-reported outcomes and genetic eligibility criteria. (NCT07185256 chunk 2)
  • NCT02162953 (Mayo Clinic; completed 2022-12-31): Observational study collecting samples to generate iPSC models of Best disease and other BEST1-related diseases (disease modeling resource). (NCT02162953 chunk 1)

13. Prevention

Primary prevention is not generally possible for monogenic inherited retinal diseases, but genetic counseling, cascade testing, and reproductive options are key.

14. Other Species / Natural Disease

  • Naturally occurring disease models are described in dogs (canine multifocal retinopathy due to biallelic cBEST1 mutations), which recapitulate many human features and have been used for preclinical AAV gene augmentation studies. (amato2023genetherapyin pages 6-7)

15. Model Organisms

15.1 Canine model

Canine multifocal retinopathy (cmr) caused by biallelic BEST1 mutations reproduces clinical/molecular/histologic features and has enabled long-term AAV augmentation studies. (amato2023genetherapyin pages 6-7)

15.2 Mouse models

BEST1 knockout mice reportedly show no retinal phenotype, whereas a knock-in model with W93C recapitulates BVMD-like features with dominant inheritance/incomplete penetrance and reduced EOG light peak. (amato2023genetherapyin pages 6-7)

15.3 iPSC-RPE models (human)

Patient-derived iPSC‑RPE models demonstrate reduced phagocytosis and stress-dependent autofluorescent material accumulation, plus altered ER-dependent Ca2+ currents; these systems have been used to test rescue strategies including augmentation and silencing+augmentation for GOF/DN contexts. (khan2018normalelectrooculographyin pages 9-13, amato2023genetherapyin pages 7-8)

Expert opinions and analysis (from authoritative sources)

  • Reviews emphasize that bestrophinopathies are slowly progressive with a wide therapeutic window, and that the presence of quantifiable subretinal material makes them attractive for clinical-trial endpoints. (amato2023genetherapyin pages 1-2)
  • Genetic testing is emphasized as essential/gold standard because phenotypes are variable and can overlap with other maculopathies. (beryozkin2024bestdiseaseglobal pages 1-2)

Direct abstract quotes (where available in retrieved evidence)

Gaps / not available in current evidence set

  • MONDO, Orphanet, ICD‑10/11, MeSH identifiers were not present in retrieved texts.
  • Formal QoL metrics and systematic environmental risk/protective factors were not present.
  • Modifier genes and epigenetic signatures were not established in the retrieved evidence corpus.

Key references (URLs and publication dates)

References

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  2. (beryozkin2024bestdiseaseglobal pages 1-2): Avigail Beryozkin, Ifat Sher, Miriam Ehrenberg, Dinah Zur, Hadas Newman, Libe Gradstein, Francis Simaan, Ygal Rotenstreich, Nitza Goldenberg-Cohen, Irit Bahar, Anat Blumenfeld, Antonio Rivera, Boris Rosin, Iris Deitch-Harel, Ido Perlman, Hadas Mechoulam, Itay Chowers, Rina Leibu, Tamar Ben-Yosef, Eran Pras, Eyal Banin, Dror Sharon, and Samer Khateb. Best disease: global mutations review, genotype–phenotype correlation, and prevalence analysis in the israeli population. Investigative Opthalmology & Visual Science, 65:39, Feb 2024. URL: https://doi.org/10.1167/iovs.65.2.39, doi:10.1167/iovs.65.2.39. This article has 6 citations.

  3. (amato2023genetherapyin pages 2-3): Alessia Amato, Nida Wongchaisuwat, Andrew Lamborn, Ryan Schmidt, Lesley Everett, Paul Yang, and Mark E. Pennesi. Gene therapy in bestrophinopathies: insights from preclinical studies in preparation for clinical trials. Saudi Journal of Ophthalmology, 37:287-295, Oct 2023. URL: https://doi.org/10.4103/sjopt.sjopt_175_23, doi:10.4103/sjopt.sjopt_175_23. This article has 8 citations.

  4. (owji2024neurotransmitterboundbestrophinchannel pages 5-6): Aaron P. Owji, Jingyun Dong, Alec Kittredge, Jiali Wang, Yu Zhang, and Tingting Yang. Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment. Nature Communications, Dec 2024. URL: https://doi.org/10.1038/s41467-024-54938-z, doi:10.1038/s41467-024-54938-z. This article has 6 citations and is from a highest quality peer-reviewed journal.

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  23. (owji2024neurotransmitterboundbestrophinchannel pages 1-2): Aaron P. Owji, Jingyun Dong, Alec Kittredge, Jiali Wang, Yu Zhang, and Tingting Yang. Neurotransmitter-bound bestrophin channel structures reveal small molecule drug targeting sites for disease treatment. Nature Communications, Dec 2024. URL: https://doi.org/10.1038/s41467-024-54938-z, doi:10.1038/s41467-024-54938-z. This article has 6 citations and is from a highest quality peer-reviewed journal.

  24. (pfister2021phenotypicandgenetic pages 2-3): Tyler A. Pfister, Wadih M. Zein, Catherine A. Cukras, Hatice N. Sen, Ramiro S. Maldonado, Laryssa A. Huryn, and Robert B. Hufnagel. Phenotypic and genetic spectrum of autosomal recessive bestrophinopathy and best vitelliform macular dystrophy. Investigative Opthalmology & Visual Science, 62:22, May 2021. URL: https://doi.org/10.1167/iovs.62.6.22, doi:10.1167/iovs.62.6.22. This article has 22 citations.

  25. (zhao2024clinicalandgenetic pages 2-4): Dongsheng Zhao, Victoria Y. Gu, Yafu Wang, Jie Peng, Jiao Lyu, Ping Fei, Yu Xu, Xiang Zhang, and Peiquan Zhao. Clinical and genetic features in autosomal recessive bestrophinopathy in chinese cohort. BMC Ophthalmology, Jul 2024. URL: https://doi.org/10.1186/s12886-024-03574-8, doi:10.1186/s12886-024-03574-8. This article has 4 citations and is from a peer-reviewed journal.

  26. (NCT05809635 chunk 1): Stephen H. Tsang. Study of BEST1 Vitelliform Macular Dystrophy. Columbia University. 2021. ClinicalTrials.gov Identifier: NCT05809635

  27. (NCT07185256 chunk 2): Safety and Tolerability of Subretinally Injected OPGx-BEST1 in Patients With Best Vitelliform Macular Dystrophy (BVMD) or Autosomal-Recessive Bestrophinopathy (ARB). Opus Genetics, Inc. 2025. ClinicalTrials.gov Identifier: NCT07185256

  28. (NCT02162953 chunk 1): Alan D. Marmorstein, Ph.D.. Stem Cell Models of Best Disease and Other Retinal Degenerative Diseases.. Mayo Clinic. 2014. ClinicalTrials.gov Identifier: NCT02162953