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Bestrofinopatia autossômica recessiva
ORPHA:139455CID-10 · H35.5CID-11 · 9B71.YOMIM 611809DOENÇA RARA

A bestrofinopatia autossômica recessiva (ARB) é uma doença genética ocular que causa a degeneração da retina e se caracteriza pela perda da visão central nos primeiros 20 anos de vida. Exames como o eletro-oculograma (EOG), que mede a atividade elétrica de algumas células do olho, não mostram a resposta normal à luz; e o eletroretinograma (ERG), que avalia a função elétrica da retina, apresenta resultados reduzidos.

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Introdução

O que você precisa saber de cara

📋

A bestrofinopatia autossômica recessiva (ARB) é uma doença genética ocular que causa a degeneração da retina e se caracteriza pela perda da visão central nos primeiros 20 anos de vida. Exames como o eletro-oculograma (EOG), que mede a atividade elétrica de algumas células do olho, não mostram a resposta normal à luz; e o eletroretinograma (ERG), que avalia a função elétrica da retina, apresenta resultados reduzidos.

Pesquisas ativas
1 ensaio
1 total registrados no ClinicalTrials.gov
Publicações científicas
135 artigos
Último publicado: 2026 Apr 15

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
20
pacientes catalogados
Início
All ages
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: H35.5
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Sinais e sintomas

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

Características mais comuns

Acuidade visual reduzida
Hipermetropia
Manchas retinianas
Amplitude diminuída do eletrorretinograma adaptado ao claro e ao escuro
Atrofia do epitélio pigmentar da retina
Herança autossômica recessiva
6sintomas
Sem dados (6)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 6 características clínicas mais associadas, ordenadas por frequência.

Acuidade visual reduzidaReduced visual acuity
HipermetropiaHypermetropia
Manchas retinianasRetinal flecks
Amplitude diminuída do eletrorretinograma adaptado ao claro e ao escuroDecreased light- and dark-adapted electroretinogram amplitude
Atrofia do epitélio pigmentar da retinaRetinal pigment epithelial atrophy

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico135PubMed
Últimos 10 anos107publicações
Pico202017 papers
Linha do tempo
2026Hoje · 2026📈 2020Ano de pico🧪 2025Primeiro ensaio clínico
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 recessive.

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

Classificação de variantes (ClinVar)

Distribuição de 66 variantes classificadas pelo ClinVar.

52
14
Patogênica (78.8%)
VUS (21.2%)
VARIANTES MAIS SIGNIFICATIVAS
BEST1: NM_004183.4(BEST1):c.481+1G>T [Pathogenic]
BEST1: NM_004183.4(BEST1):c.698del (p.Pro233fs) [Pathogenic]
BEST1: NM_004183.4(BEST1):c.948+1del [Pathogenic]
BEST1: NM_004183.4(BEST1):c.488T>G (p.Met163Arg) [Likely pathogenic]
BEST1: NM_004183.4(BEST1):c.551_552delinsT (p.Pro184fs) [Pathogenic]

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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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 21
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — Bestrofinopatia autossômica recessiva

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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

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Publicações mais relevantes

Timeline de publicações
111 papers (10 anos)
#1

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.

#2

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

Acta ophthalmologica2026 Feb 02

BEST1 variants are the third leading cause of inherited retinal dystrophies in Norway. The purpose of this study was to describe the BEST1-associated retinal dystrophy (BEST1-RD) population genetically and clinically, and to determine the prevalence of BEST1-RD in Southern and Eastern Norway. This registry-based study used the Oslo University Hospital Inherited Retinal Disease registry for genetic data and extracted clinical data from medical records. Sixty patients were included. The prevalence of BEST1-RD in Southern and Eastern Norway was between 1:64 600 and 1:43 700. Forty-one patients were diagnosed with Best's vitelliform macular dystrophy (BVMD), 15 with autosomal recessive bestrophinopathy (ARB) and 4 with autosomal dominant vitreoretinochoroidopathy (ADVIRC). The two most common genotypes were c.403G>A and c.89A>G. These variants were associated with BVMD and a later age of onset compared with other BVMD-associated genotypes. The prevalence of BEST1-RD in Southern and Eastern Norway was between 1:64 600 and 1:43 700. BVMD patients carrying c.403G>A or c.89A>G had a later age of onset than BVMD patients carrying other variants.

#3

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.

American journal of ophthalmology2026 Mar

To describe the clinical characteristics, natural history, and genotype-phenotype correlations of autosomal recessive bestrophinopathy (ARB). Retrospective cohort study including data collected for clinical practice. Thirty-four consecutive patients (68 eyes) affected by ARB who had a molecularly confirmed diagnosis followed at a single referral center for inherited retinal diseases (REFERET, Quinze-Vingts Hospital, Paris, France). We collected data from medical records, including genetic data, ophthalmologic history, clinical examinations, retinal imaging, and full-field electroretinograms (ERG). Disease severity graded on short-wavelength autofluorescence (SW-AF), and the presence of primary angle closure (PAC) was evaluated as candidate risk factors for clinical outcomes. Longitudinal outcome analysis was performed using mixed-effects linear modeling and Kaplan-Meier survival curves. ERG amplitudes; best-corrected visual acuity and degree of visual impairment according to World Health Organization criteria; central subfield thickness measured on optical coherence tomography. The median age at baseline was 32 years (interquartile range, 18.3-46.9), and 29% (10/34) of patients had PAC. On SW-AF, 21% (7/34) had isolated macular lesions (grade 1), 44% (15/34) had multifocal lesions or diffuse alterations at the posterior pole with zonal sparing (grade 2), and 35% (12/34) had panretinal alterations (grade 3). Marked attenuation of ERG amplitudes was found only in patients with grade 3 disease. Of 32 unique BEST1 variants, 11 (34%) were novel, and the p.(Thr363Pro) occurred only in grade 1 disease. The median age at onset of severe visual impairment was lower in patients with PAC (47 years) compared with those without (68 years; P = .01), whereas no such association was observed with SW-AF grade. No significant linear annual change in best-corrected visual acuity could be demonstrated over a median follow-up of 3 years. ARB encompasses a wide phenotypic spectrum, ranging from mild, isolated macular involvement to severe panretinal degeneration with abnormal ERG. However, the risk of visual impairment appears to be driven primarily by the presence of PAC rather than by the severity of fundus lesions, representing an important confounding factor for future clinical trials. The very slow rate of visual acuity decline further underscores the need for more sensitive functional outcome measures in bestrophinopathies.

#4

Vitelliform lesions and choroidal changes in chorioretinal disorders: pathophysiological insights and clinical implications.

Eye (London, England)2026 Jan

This narrative review aims to explore the correlation between choroidal thickness (CT), broader choroidal changes, and the development and progression of vitelliform lesions, with a focus on their potential modulatory role-whether primary or secondary- through mechanisms involving choriocapillaris (CC) and retinal pigment epithelium (RPE) dysfunction. CT was found to be significantly increased in various vitelliform maculopathies, including adult-onset foveomacular vitelliform dystrophy (AOFVD), Best disease, autosomal recessive bestrophinopathy, age-related macular degeneration (AMD), and pachychoroid disease spectrum (PDS) disorders. Notably, increased subfoveal CT was associated with the presence and progression of subretinal hyperreflective material and subretinal fluid in AOFVD and Best disease. In PDS disorders, choroidal thickening, pachyvessels, and choroidal vascular hyperpermeability were identified as key contributors to RPE dysfunction and vitelliform lesion formation. Conversely, leptovitelliform maculopathy was characterised by thinner choroid in association with reticular pseudodrusen or subretinal drusenoid deposits. An important feature is CC dysfunction, which is often associated with pachyvessels, even in the absence of a clear pachychoroid-related phenotype or choroidal thickening. These findings underscore the importance of CT evaluation in clinical practice and highlight the need for further research to elucidate the complex relationship between CT and vitelliform maculopathies.

#5

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.

Orphanet journal of rare diseases2025 May 25

Autosomal recessive bestrophinopathy (ARB) is a rare retinal dystrophy caused by homozygous or compound heterozygous null variants in the BEST1 gene. Clinically, ARB presents with variable features including central visual impairment, global photoreceptor dysfunction (as indicated by abnormal full-field ERG), and a significantly reduced electro-oculogram (EOG) light rise, a hallmark of bestrophinopathy. Fundus examination reveals widespread retinal pigment epithelial (RPE) disturbance, vitelliform deposits in the posterior pole (more clearly visualized with fundus autofluorescence), and macular fluid accumulation. Angle-closure glaucoma, secondary to anterior chamber dysgenesis, is a potential complication. This work aims at documenting the founder effect of a novel variant in the BEST1 gene causing autosomal recessive bestrophinopathy and determining its variable clinical features. Twelve members of nine unrelated, consanguineous Egyptian families with a history of impaired central vision underwent comprehensive ophthalmological examination, fundus color photography, fundus autofluorescence (FAF), spectral-domain optical coherence tomography (SD-OCT) of the macula, and electrophysiological studies. Variant screening of coding exons of the BEST1 gene and some flanking regions was performed using the Sanger sequencing technique. The pathogenicity of the variants was tested using different in silico functional analysis tools. The clinical examination and investigations confirmed the ARB phenotype. All twelve patients exhibited (c.365 G > C, p. Arg122Pro) a novel BEST1 gene variant in a homozygous form. On top of the classical retinal phenotype of ARB, some patients had other ocular associations: four patients were found to have angle-closure glaucoma, one patient had associated corneal dystrophy, one developed a macular hole, and one patient developed uveitis. The identification of the same, novel homozygous BEST1 missense variant in twelve patients from nine unrelated, consanguineous families of Egyptian origin, suggests a founder effect. Angle-closure glaucoma was the most commonly associated ocular abnormality (30%). Our finding expands the molecular spectrum of ARB-associated variants, and identification of this founder variant can simplify genetic testing in the presence of limited resources and lead to better counseling.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC86 artigos no totalmostrando 104

2026

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

Documenta ophthalmologica. Advances in ophthalmology
2026

Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.

Acta ophthalmologica
2026

Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.

American journal of ophthalmology
2025

Surgical treatment of autosomal recessive bestrophinopathy with angle-closure glaucoma: vitreous liquefaction as the key to correcting postoperative malignant glaucoma-three case reports.

Frontiers in medicine
2026

Vitelliform lesions and choroidal changes in chorioretinal disorders: pathophysiological insights and clinical implications.

Eye (London, England)
2025

Anti-vascular endothelial growth factor therapies in ophthalmology.

Medical hypothesis, discovery &amp; innovation ophthalmology journal
2025

Micropulse transscleral cyclophotocoagulation in the treatment of autosomal recessive bestrophinopathy combined with angle closure glaucoma: a case report.

Frontiers in medicine
2025

Best Vitelliform Macular Dystrophy.

Advances in experimental medicine and biology
2025

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

Biomedicines
2025

A unique genotype-phenotype relationship between a novel BEST1 mutation and a case of severe autosomal recessive bestrophinopathy.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2025

A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.

Orphanet journal of rare diseases
2025

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

European journal of ophthalmology
2025

MACULAR HOLE ASSOCIATED RETINAL DETACHMENT IN PRESUMED AUTOSOMAL RECESSIVE BESTROPHINOPATHY: A RETROSPECTIVE OBSERVATIONAL SERIES OF TWO CASES.

Retinal cases &amp; brief reports
2024

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

Ophthalmic genetics
2025

Perfection in Imperfection: A Case of Autosomal Recessive Bestrophinopathy.

Ophthalmic surgery, lasers &amp; imaging retina
2024

Clinical and genetic features in autosomal recessive bestrophinopathy in Chinese cohort.

BMC ophthalmology
2024

Multimodal imaging analysis of autosomal recessive bestrophinopathy: Case series.

Medicine
2024

Detection of Novel BEST1 Variations in Autosomal Recessive Bestrophinopathy Using Third-generation Sequencing.

Current medical science
2024

Multimodal imaging and genetic characteristics of autosomal recessive bestrophinopathy.

Journal francais d'ophtalmologie
2023

Prevalence of inherited retinal diseases in a large Egyptian cohort.

BMC ophthalmology
2023

Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.

Investigative ophthalmology &amp; visual science
2024

The Retinal Phenotype Associated with the p.Pro101Thr BEST1 Variant.

Ophthalmology. Retina
2024

Macular neovascularization in inherited retinal diseases: A review.

Survey of ophthalmology
2023

[A case report of autosomal recessive bestrophinopathy].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2024

Non-vasogenic cystoid maculopathy in autosomal recessive bestrophinopathy: novel insights from NIR-FAF and OCTA imaging.

Ophthalmic genetics
2023

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

BMC ophthalmology
2023

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

European journal of ophthalmology
2022

Autosomal Recessive Bestrophinopathy Presenting With a Macular Hole Retinal Detachment.

Journal of vitreoretinal diseases
2024

Typical best vitelliform dystrophy secondary to biallelic variants in BEST1.

Ophthalmic genetics
2024

ANATOMICAL AND FUNCTIONAL OUTCOMES OF BEVACIZUMAB TREATMENT IN PEDIATRIC AUTOSOMAL RECESSIVE BESTROPHINOPATHY.

Retinal cases &amp; brief reports
2023

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

Ophthalmic research
2022

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathy.

BMC ophthalmology
2022

Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up.

Frontiers in genetics
2023

Photoreceptor function and structure in retinal degenerations caused by biallelic BEST1 mutations.

Vision research
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

Microstructural changes of photoreceptor layers detected by ultrahigh-resolution SD-OCT in patients with autosomal recessive bestrophinopathy.

American journal of ophthalmology case reports
2023

Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.

Ophthalmic genetics
2022

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

Experimental eye research
2022

Clinical Features and Genetic Findings of Autosomal Recessive Bestrophinopathy.

Genes
2022

Angle-closure glaucoma associated with autosomal recessive bestrophinopathy.

Indian journal of ophthalmology
2022

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

Indian journal of ophthalmology
2022

Branch retina vein occlusion combined with angle-closure glaucoma is associated with a mutation in BEST1: a case report.

BMC 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

Heterozygote MTHFR A1298C mutation in a case of autosomal recessive bestrophinopathy with branch retinal vein occlusion.

Ophthalmic genetics
2023

Twelve-year follow up of a case of autosomal recessive bestrophinopathy with transient resolution of retinal edema in one eye.

European journal of ophthalmology
2022

[Clinical features of young inpatients with angle-closure glaucoma].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2022

Clinical reassessments and whole-exome sequencing uncover novel BEST1 mutation associated with bestrophinopathy phenotype.

Ophthalmic genetics
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
2022

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

Acta ophthalmologica
2021

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

Investigative ophthalmology &amp; visual science
2021

Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases.

Journal of ophthalmology
2022

Novel BEST1 mutations and clinical characteristics of autosomal recessive bestrophinopathy in a Spanish patient.

European journal of ophthalmology
2021

Novel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings.

Taiwan journal of ophthalmology
2021

Macular Hole-Associated Retinal Detachment in Autosomal Recessive Bestrophinopathy.

Ophthalmology. Retina
2020

Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene.

International journal of molecular sciences
2023

MACULAR HOLE-RELATED RETINAL DETACHMENT COMPLICATING AUTOSOMAL RECESSIVE BESTROPHINOPATHY: CLINICAL FEATURES, MULTIMODAL IMAGING, AND SURGICAL OUTCOME.

Retinal cases &amp; brief reports
2021

Autosomal Recessive Bestrophinopathy: Clinical Features, Natural History, and Genetic Findings in Preparation for Clinical Trials.

Ophthalmology
2020

Induced Pluripotent Stem Cell Modeling of Best Disease and Autosomal Recessive Bestrophinopathy.

Yonsei medical journal
2020

Pathogenic role of the vitreous in angle-closure glaucoma with autosomal recessive bestrophinopathy: a case report.

BMC ophthalmology
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

Autosomal recessive bestrophinopathy with macular hole.

Indian 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

Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.

Ophthalmology. Retina
2020

[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].

Klinische Monatsblatter fur Augenheilkunde
2020

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.

International journal of molecular sciences
2020

Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile.

BMC medical genetics
2020

Visual Acuity and Foveal Structure in Eyes with Fragmented Foveal Avascular Zones.

Ophthalmology. Retina
2019

Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
2019

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

Genes
2020

Bilateral Choroidal Neovascularization and Chorioretinal Anastomosis in Autosomal Recessive Bestrophinopathy.

Journal of vitreoretinal diseases
2019

Neovascularized Best Disease in Child: Contribution of Optical Coherence Tomography Angiography.

Ophthalmic surgery, lasers &amp; imaging retina
2020

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

The British journal of ophthalmology
2019

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

Clinical &amp; experimental ophthalmology
2019

Novel Missense Mutations in BEST1 Are Associated with Bestrophinopathies in Lebanese Patients.

Genes
2019

Novel BEST1 mutations and special clinical characteristics of autosomal recessive bestrophinopathy in Chinese patients.

Acta ophthalmologica
2018

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

BioMed research international
2018

Clinical Course of Autosomal Recessive Bestrophinopathy Complicated by Choroidal Neovascularization.

Ophthalmic surgery, lasers &amp; imaging retina
2020

CHANGES OF CONE PHOTORECEPTOR MOSAIC IN AUTOSOMAL RECESSIVE BESTROPHINOPATHY.

Retina (Philadelphia, Pa.)
2018

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

Scientific reports
2018

[Analysis on the clinical and retinal imaging characteristics of autosomal recessive bestrophinopathy].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2018

BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes.

Human molecular genetics
2018

Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.

Scientific reports
2018

AUTOSOMAL RECESSIVE BESTROPHINOPATHY: MULTIMODAL IMAGING UPDATE.

Retinal cases &amp; brief reports
2019

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

Retina (Philadelphia, Pa.)
2018

Idiopathic Acute Exudative Polymorphous Vitelliform Maculopathy: Clinical Spectrum and Multimodal Imaging Characteristics.

Ophthalmology
2017

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

Scientific 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

NORMAL ELECTROOCULOGRAPHY IN BEST DISEASE AND AUTOSOMAL RECESSIVE BESTROPHINOPATHY.

Retina (Philadelphia, Pa.)
2017

Ten-Year Follow-Up after Bilateral Submacular Neovascular Membrane Removal in a Case of Autosomal Recessive Bestrophinopathy.

Case reports in ophthalmology
2017

A unique case series of autosomal recessive bestrophinopathy exhibiting multigenerational inheritance.

Ophthalmic genetics
2017

[Multimodal Approaches for the Analysis of Retinal Functional Disorders―Focusing on Retinal Detachment].

Nippon Ganka Gakkai zasshi
2017

Bestrophin 1 and retinal disease.

Progress in retinal and eye research
2017

Flat Anterior Chamber after Trabeculectomy in Secondary Angle-Closure Glaucoma with BEST1 Gene Mutation: Case Series.

PloS one
2017

FUNCTIONAL AND ANATOMICAL OUTCOMES OF CHOROIDAL NEOVASCULARIZATION COMPLICATING BEST1-RELATED RETINOPATHY.

Retina (Philadelphia, Pa.)
2016

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model.

Disease models &amp; mechanisms
2017

[Extensive yellowish fundus changes in a 6-year-old child].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2016

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

American journal of ophthalmology
2016

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

Documenta ophthalmologica. Advances in ophthalmology
2016

Retinitis pigmentosa associated with a mutation in BEST1.

American journal of ophthalmology case reports
2015

A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy.

Investigative ophthalmology &amp; visual science
2016

BESTROPHINOPATHY: A Spectrum of Ocular Abnormalities Caused by the c.614T>C Mutation in the BEST1 Gene.

Retina (Philadelphia, Pa.)
2016

Biallelic Mutations in the BEST1 Gene: Additional Families with Autosomal Recessive Bestrophinopathy.

Ophthalmic genetics
2015

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

Investigative ophthalmology &amp; visual science

Associações

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Bestrofinopatia autossômica recessiva

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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. Review of the clinical electrooculogram&#xa0;- Part 2: the bestrophinopathies and modified protocols.
    Documenta ophthalmologica. Advances in ophthalmology· 2026· PMID 41795754mais citado
  2. Clinical and genetic characterization of BEST1-associated retinal dystrophies in the Norwegian population.
    Acta ophthalmologica· 2026· PMID 41627933mais citado
  3. Autosomal Recessive Bestrophinopathy-Phenotypic Variability, Natural History, and Genotype-Phenotype Correlations.
    American journal of ophthalmology· 2026· PMID 41421761mais citado
  4. Vitelliform lesions and choroidal changes in chorioretinal disorders: pathophysiological insights and clinical implications.
    Eye (London, England)· 2026· PMID 41198979mais citado
  5. A novel founder variant in BEST1 gene causing autosomal recessive bestrophinopathy.
    Orphanet journal of rare diseases· 2025· PMID 40414863mais citado
  6. Central retinal vein occlusion in BEST1-related angle-closure glaucoma in autosomal recessive bestrophinopathy: a case report.
    Ophthalmic Genet· 2026· PMID 41987504recente
  7. Ultra-Widefield Examination of the Peripheral Retina in BEST1 -related retinopathy.
    Retina· 2026· PMID 41914891recente
  8. Characterization of ARB in twins: in-trans frameshift and deep intronic BEST1 variants.
    Ophthalmic Genet· 2026· PMID 41888027recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:139455(Orphanet)
  2. OMIM OMIM:611809(OMIM)
  3. MONDO:0012733(MONDO)
  4. GARD:10301(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. Q18553385(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

Bestrofinopatia autossômica recessiva
Compêndio · Raras BR

Bestrofinopatia autossômica recessiva

ORPHA:139455 · MONDO:0012733
Prevalência
<1 / 1 000 000
Casos
20 casos conhecidos
Herança
Autosomal recessive
CID-10
H35.5 · Distrofias hereditárias da retina
CID-11
Ensaios
1 ativos
Início
All ages
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C2678493
EuropePMC
Wikidata
Papers 10a
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