Raras
Buscar doenças, sintomas, genes...
Doença de Best
ORPHA:1243CID-10 · H35.5CID-11 · 9B70OMIM 153700DOENÇA RARA

A melhor distrofia macular viteliforme (BVMD) é uma distrofia macular genética caracterizada por perda da acuidade visual central, metamorfopsia e diminuição da razão de Arden secundária a uma lesão semelhante a gema de ovo localizada na região foveal ou parafoveal.

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Introdução

O que você precisa saber de cara

📋

A melhor distrofia macular viteliforme (BVMD) é uma distrofia macular genética caracterizada por perda da acuidade visual central, metamorfopsia e diminuição da razão de Arden secundária a uma lesão semelhante a gema de ovo localizada na região foveal ou parafoveal.

Pesquisas ativas
2 ensaios
11 total registrados no ClinicalTrials.gov
Publicações científicas
230 artigos
Último publicado: 2026 Apr 16

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
20.0
Sweden
Início
Adolescent
+ childhood
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: H35.5
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Características mais comuns

90%prev.
Metamorfopsia
Muito frequente (99-80%)
90%prev.
Deficiência visual
Muito frequente (99-80%)
90%prev.
Degeneração macular cistoide
Muito frequente (99-80%)
55%prev.
Defeito da visão de cores
Frequente (79-30%)
17%prev.
Defeito do campo visual
Ocasional (29-5%)
17%prev.
Coroideremia
Ocasional (29-5%)
11sintomas
Muito frequente (3)
Frequente (1)
Ocasional (2)
Sem dados (5)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.

MetamorfopsiaMetamorphopsia
Muito frequente (99-80%)90%
Deficiência visualVisual impairment
Muito frequente (99-80%)90%
Degeneração macular cistoideCystoid macular degeneration
Muito frequente (99-80%)90%
Defeito da visão de coresColor vision defect
Frequente (79-30%)55%
Defeito do campo visualVisual field defect
Ocasional (29-5%)17%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico230PubMed
Últimos 10 anos151publicações
Pico202218 papers
Linha do tempo
2026Hoje · 2026🧪 2007Primeiro ensaio clínico📈 2022Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

Genes associados

1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.

BEST1Bestrophin-1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

Ligand-gated anion channel that allows the movement of anions across cell membranes when activated by calcium (Ca2+) (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Allows the movement of chloride and hydrogencarbonate (PubMed:11904445, PubMed:12907679, PubMed:18179881, PubMed:18400985, PubMed:19853238, PubMed:21330666, PubMed:26200502, PubMed:26720466, PubMed:35789156). Found in a partiall

LOCALIZAÇÃO

Cell membraneBasolateral cell membrane

VIAS BIOLÓGICAS (1)
Stimuli-sensing channels
MECANISMO DE DOENÇA

Macular dystrophy, vitelliform, 2

An autosomal dominant form of macular degeneration that usually begins in childhood or adolescence. VMD2 is characterized by typical 'egg-yolk' macular lesions due to abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. Progression of the disease leads to destruction of the retinal pigment epithelium and vision loss.

VIAS REACTOME (1)
OUTRAS DOENÇAS (8)
vitelliform macular dystrophy 2retinitis pigmentosa 50autosomal dominant vitreoretinochoroidopathyautosomal recessive bestrophinopathy
HGNC:12703UniProt:O76090

Variantes genéticas (ClinVar)

455 variantes patogênicas registradas no ClinVar.

🧬 BEST1: NM_004183.4(BEST1):c.895G>C (p.Gly299Arg) ()
🧬 BEST1: NM_004183.4(BEST1):c.242T>G (p.Val81Gly) ()
🧬 BEST1: NM_004183.4(BEST1):c.638A>T (p.Glu213Val) ()
🧬 BEST1: NM_004183.4(BEST1):c.943_948+26del ()
🧬 BEST1: NM_004183.4(BEST1):c.949-5_951del ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
2Fase 23
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 5 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Doença de Best

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

🟢 Recrutando agora

2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

11 ensaios clínicos encontrados, 2 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
155 papers (10 anos)
#1

Hsp70/CHIP E3 ligase complex triggers K149-linked ubiquitination and degradation of BEST1 mutants p.P233L and p.P346H, impairing chloride channel function and retinal integrity.

Cellular signalling2026 Mar

The mechanisms underlying ubiquitination-mediated degradation of bestrophinopathy-causing mutants and their in vivo effects on retinal pigment epithelium (RPE) localization and retinal structure remain poorly understood. Furthermore, the upstream signaling cascade that induces degradation of these mutants and the detailed ubiquitination mechanism are unknown. Here, we report a c.1037C > A (p.P346H) mutation and a c.698C > T (p.P233L) mutation that co-segregate with the phenotypes of pedigrees affected by RP50 and Best vitelliform macular dystrophy (BVMD), respectively. The BEST1 mutants p.P233L and p.P346H reduced chloride channel activity and induced mislocalization of bestrophin-1 in polarized MDCK II cells, significantly affecting the channel activity of wild-type bestrophin-1. Lys149 was identified as the site responsible for ubiquitination of p.P346H- and p.P233L-bestrophin-1, mediated by Hsp70 and the C-terminal Hsp70-interacting protein (CHIP). Mutant bestrophin-1 proteins p.P346H and p.P233L undergo ubiquitination and degradation, preventing their localization to the cell membrane of MDCK II cells and the RPE of zebrafish, thereby reducing chloride channel activity. Mislocalization of mutant bestrophin-1 to the RPE impaired the multicellular layered structure of the retina. Our study reveals a ubiquitination signaling pathway mediated by Hsp70 and CHIP that depends on Lys149 of bestrophin-1. Aberrant activation of this pathway leads to loss of function in the p.P233L and p.P346H mutants and triggers retinopathy.

#2

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.

Ophthalmic genetics2026 Mar 11

We describe the phenotypic characteristics and genetic findings in two siblings with vitelliform macular dystrophy within the spectrum of bestrophinopathies caused by a previously unreported BEST1 variant. A 53-year-old woman and her 47-year-old brother with long-standing reduced visual acuity and hyperopia underwent comprehensive ophthalmic examination, including fundus imaging, optical coherence tomography (OCT), fundus autofluorescence (FAF), electrooculography (EOG), and genetic testing. The sister's best-corrected visual acuity (BCVA) was 0.62 and 0.66 logMAR, with +6.00 D and +4.50 D hyperopia. The brother showed more advanced disease, with hand motion vision and 0.74 logMAR BCVA, and +5.00 D and +6.25 D hyperopia. Fundus imaging revealed multiple small vitelliform lesions near the vascular arcades and macular retinal pigment epithelium changes without central deposits. OCT showed outer retinal atrophy and subretinal fluid, more severe in the brother. FAF demonstrated hyperautofluorescent vitelliform material surrounding a hypoautofluorescent macula. EOGs were markedly reduced. Genetic testing identified a novel BEST1 variant, c.911A>T (p.Asp304Val), predicted pathogenic. No family history was reported. This novel autosomal recessive BEST1 variant expands the clinical and genetic spectrum of bestrophinopathies.

#3

Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.

Documenta ophthalmologica. Advances in ophthalmology2026 Mar 08

The light-rise of the electro-oculogram (EOG) is used as a clinical marker for a collection of disorders known as the 'bestrophinopathies.' This review provides an overview of these conditions including Best Vitelliform Macular Dystrophy (BVMD, Autosomal Recessive Bestrophinopathy (ARB), Adult Onset Vitelliform Macular Dystrophy (AVMD) and Autosomal Dominant Vitreoretinalchoriodopathy (ADVIRC) and potential future therapies. One drawback of the EOG is the time to administer the test and shortened protocols that have been developed to improve the clinical testing of the EOG which include incorporating measures during recordings of the ERG or shortening the period of dark and light adaptation. The companion paper summarizes the cellular mechanism of the EOG, and this review is focused on the clinical applications of the EOG.

#4

The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.

Documenta ophthalmologica. Advances in ophthalmology2026 Feb 02

The clinical electrooculogram (EOG) is used for the diagnosis of bestrophinopathies to evaluate the function of the retinal pigment epithelium. The current ISCEV test protocol uses a broad band white light with luminance of 100 cd/m2. An alternative monochromatic 448 nm short wavelength (SW-EOG) has been proposed but to date has not been evaluated in clinical cases where the standard EOG is abnormal. To evaluate the clinical potential of the SW-EOG four genetically confirmed cases of Best Vitelliform Macular Dystrophy were tested using the standard white (100 cd/m2) and SW-EOG (448 nm) at 30 cd/m2 to ascertain if the SW-EOG was also affected. In addition, a qualitative 5-point Likert survey was conducted to gauge overall patient comfort. In all four cases the SW-EOG was reduced and provided an equivalent clinical measure for RPE dysfunction. All four participants rated the SW-EOG as being more comfortable than the white standard EOG test. This is the first demonstration of an alternative stimulus for the EOG that provided clinically valid results with greater comfort than the current ISCEV protocol. Further studies are required to validate the SW-EOG as an alternative to the white broad band stimulus.

#5

Acquired Torpedo-like Maculopathy Associated With Macular Neovascularization in Best Vitelliform Macular Dystrophy.

Retina (Philadelphia, Pa.)2026 Apr 01

Publicações recentes

Ver todas no PubMed

📚 EuropePMC117 artigos no totalmostrando 146

2026

Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.

Ophthalmic genetics
2026

Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.

Documenta ophthalmologica. Advances in ophthalmology
2026

The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.

Documenta ophthalmologica. Advances in ophthalmology
2026

Hsp70/CHIP E3 ligase complex triggers K149-linked ubiquitination and degradation of BEST1 mutants p.P233L and p.P346H, impairing chloride channel function and retinal integrity.

Cellular signalling
2025

Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients.

Documenta ophthalmologica. Advances in ophthalmology
2025

Best vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.

Documenta ophthalmologica. Advances in ophthalmology
2026

Acquired Torpedo-like Maculopathy Associated With Macular Neovascularization in Best Vitelliform Macular Dystrophy.

Retina (Philadelphia, Pa.)
2025

Generation of the induced pluripotent stem cell line SJTUGHi004-A derived from a Best's disease patient with c.763C > T mutation in BEST1 gene.

Stem cell research
2025

Best Vitelliform Macular Dystrophy.

Advances in experimental medicine and biology
2025

Multimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements.

Ophthalmology science
2025

Unilateral maculopathy associated with autosomal dominant bestrophinopathy.

Ophthalmic genetics
2025

A spontaneous nonhuman primate model of inherited retinal degeneration.

JCI insight
2025

Best Vitelliform Macular Dystrophy Presenting with Choroidal Neovascular Membrane in an Adolescent: A Case Report and a Review of the Literature.

Journal of the West African College of Surgeons
2025

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

Ophthalmology. Retina
2025

Unilateral best vitelliform macular dystrophy- a case series.

Documenta ophthalmologica. Advances in ophthalmology
2025

Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.

Journal of clinical medicine
2025

Canine Best disease as a translational model.

Eye (London, England)
2025

BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.

Retinal cases &amp; brief reports
2024

Screening electro-oculography protocol as a part of full-field electroretinography.

Documenta ophthalmologica. Advances in ophthalmology
2025

Subthreshold micropulse laser treatment for autosomal recessive bestrophinopathy complicated by macular neovascularization.

European journal of ophthalmology
2024

BEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma.

Ophthalmic genetics
2024

Multimodal imaging analysis of autosomal recessive bestrophinopathy: Case series.

Medicine
2024

Optical Coherence Tomography in Inherited Macular Dystrophies: A Review.

Diagnostics (Basel, Switzerland)
2024

Clinical features and possible pathogenesis of multiple evanescent white dot syndrome with different retinal diseases and events: a narrative review.

International journal of ophthalmology
2024

Artificial Intelligence (AI) for Early Diagnosis of Retinal Diseases.

Medicina (Kaunas, Lithuania)
2024

Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.

Japanese journal of ophthalmology
2024

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

Ophthalmology
2023

Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.

Stem cell research &amp; therapy
2023

Fixation Location and Stability in Best Vitelliform Macular Dystrophy.

Ophthalmology science
2023

Scleral Thickness in Autosomal Dominant Best Vitelliform Macular Dystrophy.

Retinal cases &amp; brief reports
2023

Variants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.

BMC ophthalmology
2023

The pseudohypopyon stage in adult-onset foveomacular vitelliform dystrophy.

International ophthalmology
2023

Paradoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.

European journal of ophthalmology
2024

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

European journal of ophthalmology
2024

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.

Ophthalmic genetics
2023

Elaborate Evaluation of Farnsworth Dichotomous D-15 Panel Test Can Help Differentiate between Best Vitelliform Macular Dystrophy and Autosomal Recessive Bestrophinopathy.

Ophthalmic research
2023

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

Ophthalmology. Retina
2022

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

Investigative ophthalmology &amp; visual science
2023

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.

Molecular genetics &amp; genomic medicine
2022

Temporary Vitelliform Regression After Intravitreal Ranibizumab Injection for Macular Neovascularization Complicating Best Disease.

International medical case reports journal
2022

Combination of Trabeculectomy and Primary Pars Plana Vitrectomy in the Successful Treatment of Angle-Closure Glaucoma with BEST1 Mutations: Self-Controlled Case Series.

Ophthalmology and therapy
2022

Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.

Translational vision science &amp; technology
2022

Optical Coherence Tomography-Based Choroidal Structural Analysis and Vascularity Index in Best Vitelliform Macular Dystrophy.

Ophthalmology and therapy
2022

Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.

Experimental eye research
2022

Deep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD).

Scientific reports
2022

Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.

International journal of molecular sciences
2022

Clinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life.

Indian journal of ophthalmology
2022

Bilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy.

Proceedings (Baylor University. Medical Center)
2022

Choroidal Neovascularization Associated with Best Vitelliform Macular Dystrophy.

Beyoglu eye journal
2022

Persistent macular oedema following Best vitelliform macular dystrophy undergoing anti-VEGF treatment.

International journal of ophthalmology
2021

A novel variant of autosomal recessive best vitelliform macular dystrophy and management of early-onset complications.

Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological Society
2022

Novel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families.

International journal of ophthalmology
2021

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

BMJ open ophthalmology
2022

Best Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1).

Ophthalmic genetics
2021

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

European journal of ophthalmology
2022

Clinical findings in eyes with BEST1-related retinopathy complicated by choroidal neovascularization.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2021

Multimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.

Experimental and therapeutic medicine
2022

Disease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.

Acta ophthalmologica
2021

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

Scientific reports
2021

Multimodal Imaging Characteristics of Quiescent Type 1 Neovascularization in Best Vitelliform Macular Dystrophy.

Turkish journal of ophthalmology
2021

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.

Investigative ophthalmology &amp; visual science
2021

Multimodal imaging in a case of best vitelliform macular dystrophy.

European journal of ophthalmology
2021

Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings.

Taiwan journal of ophthalmology
2021

Customized Slab-Segmentation Method for Projection-Artifact Elimination in Best Vitelliform Macular Dystrophy: A Swept-Source Optical Coherence Tomography Angiography Study.

Clinical ophthalmology (Auckland, N.Z.)
2021

Macular neovascularization in AMD, CSC and best vitelliform macular dystrophy: quantitative OCTA detects distinct clinical entities.

Eye (London, England)
2022

Multimodal imaging in subclinical best vitelliform macular dystrophy.

The British journal of ophthalmology
2022

Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy.

The British journal of ophthalmology
2021

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

Retina (Philadelphia, Pa.)
2021

Natural course of the vitelliform stage in best vitelliform macular dystrophy: a five-year follow-up study.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2020

Bilateral, Solitary, Extramacular Vitelliform Retinal Lesions in a Patient With Best Disease.

Journal of vitreoretinal diseases
2020

Optical Coherence Tomography Angiography Quantitative Assessment of Macular Neovascularization in Best Vitelliform Macular Dystrophy.

Investigative ophthalmology &amp; visual science
2020

Disease-causing mutations associated with bestrophinopathies promote apoptosis in retinal pigment epithelium cells.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2020

Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.

Investigative ophthalmology &amp; visual science
2020

Anti-VEGF and Retinal Dystrophies.

Current drug targets
2021

A novel mutation of BEST1 gene in Best disease.

European journal of ophthalmology
2020

The Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.

American journal of ophthalmology
2020

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

JAMA ophthalmology
2020

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

International journal of molecular sciences
2020

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

FASEB journal : official publication of the Federation of American Societies for Experimental Biology
2019

Optical coherence tomography angiography in best vitelliform macular dystrophy.

Journal of current ophthalmology
2019

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

Scientific reports
2019

Optical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases.

Journal of clinical medicine
2019

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).

Genes
2020

Appearance of pediatric choroidal neovascular membranes on optical coherence tomography angiography.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2019

Large, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy.

Case reports in ophthalmology
2019

Pathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.

Journal of translational medicine
2020

Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.

The British journal of ophthalmology
2019

Generation of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene.

Stem cell research
2019

A Case of Best Disease Accompanied by Pachychoroid Neovasculopathy.

Turkish journal of ophthalmology
2019

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

American journal of ophthalmology
2020

Altered ellipsoid zone reflectivity and deep capillary plexus rarefaction correlate with progression in Best disease.

The British journal of ophthalmology
2019

Nanomedicine-based Curcumin Approach Improved ROS Damage in Best Dystrophy-specific Induced Pluripotent Stem Cells.

Cell transplantation
2019

Novel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.

Clinical &amp; experimental ophthalmology
2019

The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.

Biology open
2019

Multimodal Imaging in Best Vitelliform Macular Dystrophy.

Investigative ophthalmology &amp; visual science
2019

Chromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy.

Clinical ophthalmology (Auckland, N.Z.)
2019

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

Oman journal of ophthalmology
2019

Best vitelliform macular dystrophy in a large Brazilian family.

International journal of retina and vitreous
2018

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

BioMed research international
2018

Expression and Purification of Mammalian Bestrophin Ion Channels.

Journal of visualized experiments : JoVE
2018

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.

Scientific reports
2018

Atypical presentation of Best Disease.

Archivos de la Sociedad Espanola de Oftalmologia
2018

Treatment of Macular Degeneration with Sildenafil: Results of a Two-Year Trial.

Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur Augenheilkunde
2018

Choroidal Caverns: A Previously Unreported Optical Coherence Tomography Finding in Best Vitelliform Dystrophy.

Ophthalmic surgery, lasers &amp; imaging retina
2018

Generation of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation.

Stem cell research
2018

Findings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy.

Ophthalmic research
2018

Association of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series.

Case reports in ophthalmology
2018

Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography.

American journal of ophthalmology
2018

Choroidal neovascular membrane in paediatric patients: clinical characteristics and outcomes.

The British journal of ophthalmology
2019

IMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.

Retina (Philadelphia, Pa.)
2018

Genetic variations in Bestrophin‑1 and associated clinical findings in two Chinese patients with juvenile‑onset and adult‑onset best vitelliform macular dystrophy.

Molecular medicine reports
2018

INTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY.

Retina (Philadelphia, Pa.)
2017

Juvenile Macular Degenerations.

Seminars in pediatric neurology
2017

Adult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.

Scientific reports
2017

Bestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.

Molecular medicine reports
2017

Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.

Investigative ophthalmology &amp; visual science
2018

SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY.

Retina (Philadelphia, Pa.)
2018

MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY.

Retina (Philadelphia, Pa.)
2017

Optical coherence tomography in Best vitelliform macular dystrophy.

European journal of ophthalmology
2017

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

Ophthalmology
2017

Bestrophin 1 and retinal disease.

Progress in retinal and eye research
2017

Bestrophinopathy: An RPE-photoreceptor interface disease.

Progress in retinal and eye research
2017

Choroidal neovascularization secondary to Best vitelliform macular dystrophy detected by optical coherence tomography angiography.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2016

Clinical and genetic heterogeneity in Slovenian patients with BEST disease.

Acta ophthalmologica
2017

PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY.

Retina (Philadelphia, Pa.)
2016

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

Journal francais d'ophtalmologie
2016

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.

American journal of ophthalmology
2016

Novel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.

Ophthalmic research
2016

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.

Documenta ophthalmologica. Advances in ophthalmology
2016

Best Vitelliform Macular Dystrophy In Afghan Twins.

Journal of Ayub Medical College, Abbottabad : JAMC
2017

Bilateral macular holes and a new onset vitelliform lesion in Best disease.

Ophthalmic genetics
2016

A NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.

Retina (Philadelphia, Pa.)
2016

Functional assessment of the fundus autofluorescence pattern in Best vitelliform macular dystrophy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2016

CHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY.

Retina (Philadelphia, Pa.)
2016

Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.

Advances in experimental medicine and biology
2016

RECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY.

Retinal cases &amp; brief reports
2015

Focal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report.

Journal of clinical and diagnostic research : JCDR
2015

Using Stem Cells to Model Diseases of the Outer Retina.

Computational and structural biotechnology journal
2015

Novel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.

Optometry and vision science : official publication of the American Academy of Optometry
2015

Transepithelial resistance in human bestrophin-1 stably transfected Madin-Darby canine kidney cells.

Biotechnology, biotechnological equipment
2016

Retinal structure in young patients aged 10 years or less with Best vitelliform macular dystrophy.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2015

Two novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.

Molecular medicine reports
2015

The causes of hyperreflective dots in optical coherence tomography excluding diabetic macular edema and retinal venous occlusion§.

The open ophthalmology journal
2015

Bestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.

Molecular vision
2015

Long-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy.

Ophthalmic genetics
2015

A 5-year-old girl with decreased vision in the left eye.

Digital journal of ophthalmology : DJO

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. Hsp70/CHIP E3 ligase complex triggers K149-linked ubiquitination and degradation of BEST1 mutants p.P233L and p.P346H, impairing chloride channel function and retinal integrity.
    Cellular signalling· 2026· PMID 41456629mais citado
  2. Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.
    Ophthalmic genetics· 2026· PMID 41813572mais citado
  3. Review of the clinical electrooculogram&#xa0;- Part 2: the bestrophinopathies and modified protocols.
    Documenta ophthalmologica. Advances in ophthalmology· 2026· PMID 41795754mais citado
  4. The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.
    Documenta ophthalmologica. Advances in ophthalmology· 2026· PMID 41629643mais citado
  5. Acquired Torpedo-like Maculopathy Associated With Macular Neovascularization in Best Vitelliform Macular Dystrophy.
    Retina (Philadelphia, Pa.)· 2026· PMID 40924902mais citado
  6. Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy.
    Ophthalmic Genet· 2026· PMID 41991505recente
  7. Review of the clinical electrooculogram - Part 1: Mechanism of the Light-Rise.
    Doc Ophthalmol· 2026· PMID 41986808recente
  8. Ultra-Widefield Examination of the Peripheral Retina in BEST1 -related retinopathy.
    Retina· 2026· PMID 41914891recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:1243(Orphanet)
  2. OMIM OMIM:153700(OMIM)
  3. MONDO:0007931(MONDO)
  4. GARD:182(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q55950252(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Doença de Best
Compêndio · Raras BR

Doença de Best

ORPHA:1243 · MONDO:0007931
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
H35.5 · Distrofias hereditárias da retina
CID-11
Ensaios
2 ativos
Início
Adolescent, Childhood
Prevalência
20.0 (Sweden)
MedGen
UMLS
C0339510
EuropePMC
Wikidata
Papers 10a
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