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.
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.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 11 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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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.
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
Cell membraneBasolateral cell membrane
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.
Variantes genéticas (ClinVar)
455 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
1 via biológica associada aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
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
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
11 ensaios clínicos encontrados, 2 ativos.
Publicações mais relevantes
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.
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.
Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.
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.
Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.
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.
The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.
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.
Acquired Torpedo-like Maculopathy Associated With Macular Neovascularization in Best Vitelliform Macular Dystrophy.
Publicações recentes
Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy.
Review of the clinical electrooculogram - Part 1: Mechanism of the Light-Rise.
Ultra-Widefield Examination of the Peripheral Retina in BEST1 -related retinopathy.
Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.
Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.
📚 EuropePMC117 artigos no totalmostrando 146
Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.
Ophthalmic geneticsReview of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.
Documenta ophthalmologica. Advances in ophthalmologyThe short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.
Documenta ophthalmologica. Advances in ophthalmologyHsp70/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 signallingCharacterization 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 ophthalmologyBest vitelliform macular dystrophy caused by a BEST1 p.(Ser246Asn) variant coexisting with diabetic retinopathy.
Documenta ophthalmologica. Advances in ophthalmologyAcquired Torpedo-like Maculopathy Associated With Macular Neovascularization in Best Vitelliform Macular Dystrophy.
Retina (Philadelphia, Pa.)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 researchBest Vitelliform Macular Dystrophy.
Advances in experimental medicine and biologyMultimodal Imaging and Dark-Adapted Chromatic Perimetry in BEST1 Vitelliform Macular Dystrophy: Identification of Outcome Measurements.
Ophthalmology scienceUnilateral maculopathy associated with autosomal dominant bestrophinopathy.
Ophthalmic geneticsA spontaneous nonhuman primate model of inherited retinal degeneration.
JCI insightBest 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 SurgeonsBest Vitelliform Macular Dystrophy Natural History Study Report 2: Fundus Autofluorescence and OCT.
Ophthalmology. RetinaUnilateral best vitelliform macular dystrophy- a case series.
Documenta ophthalmologica. Advances in ophthalmologyAdvancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
Journal of clinical medicineCanine Best disease as a translational model.
Eye (London, England)BEST1 VARIANT ASSOCIATED WITH AN ATYPICAL MACULAR AND PERIPHERAL RETINAL PHENOTYPE.
Retinal cases & brief reportsScreening electro-oculography protocol as a part of full-field electroretinography.
Documenta ophthalmologica. Advances in ophthalmologySubthreshold micropulse laser treatment for autosomal recessive bestrophinopathy complicated by macular neovascularization.
European journal of ophthalmologyBEST1 associated bestrophinopathies with angle closure and post-surgical malignant glaucoma.
Ophthalmic geneticsMultimodal imaging analysis of autosomal recessive bestrophinopathy: Case series.
MedicineOptical Coherence Tomography in Inherited Macular Dystrophies: A Review.
Diagnostics (Basel, Switzerland)Clinical features and possible pathogenesis of multiple evanescent white dot syndrome with different retinal diseases and events: a narrative review.
International journal of ophthalmologyArtificial Intelligence (AI) for Early Diagnosis of Retinal Diseases.
Medicina (Kaunas, Lithuania)Nationwide epidemiologic survey on incidence of macular dystrophy in Japan.
Japanese journal of ophthalmologyBest Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.
OphthalmologyApplication of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.
Stem cell research & therapyFixation Location and Stability in Best Vitelliform Macular Dystrophy.
Ophthalmology scienceScleral Thickness in Autosomal Dominant Best Vitelliform Macular Dystrophy.
Retinal cases & brief reportsVariants of BEST1 and CRYBB2 cause a complex ocular phenotype comprising microphthalmia, microcornea, cataract, and vitelliform macular dystrophy: case report.
BMC ophthalmologyThe pseudohypopyon stage in adult-onset foveomacular vitelliform dystrophy.
International ophthalmologyParadoxical autosomal recessive bestrophinopathy-like phenotypes shown in an autosomal dominant pedigree.
European journal of ophthalmologyMultimodal imaging in Best Vitelliform Macular Dystrophy: Literature review and novel insights.
European journal of ophthalmologyTypical best vitelliform dystrophy secondary to biallelic variants in BEST1.
Ophthalmic geneticsElaborate Evaluation of Farnsworth Dichotomous D-15 Panel Test Can Help Differentiate between Best Vitelliform Macular Dystrophy and Autosomal Recessive Bestrophinopathy.
Ophthalmic researchChoroidal Neovascularization Is Common in Best Vitelliform Macular Dystrophy and Plays a Role in Vitelliform Lesion Evolution.
Ophthalmology. RetinaPhotoreceptor Function and Structure in Autosomal Dominant Vitelliform Macular Dystrophy Caused by BEST1 Mutations.
Investigative ophthalmology & visual scienceBEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.
Molecular genetics & genomic medicineTemporary Vitelliform Regression After Intravitreal Ranibizumab Injection for Macular Neovascularization Complicating Best Disease.
International medical case reports journalCombination of Trabeculectomy and Primary Pars Plana Vitrectomy in the Successful Treatment of Angle-Closure Glaucoma with BEST1 Mutations: Self-Controlled Case Series.
Ophthalmology and therapyClinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.
Translational vision science & technologyOptical Coherence Tomography-Based Choroidal Structural Analysis and Vascularity Index in Best Vitelliform Macular Dystrophy.
Ophthalmology and therapyGenetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.
Experimental eye researchDeep learning to distinguish Best vitelliform macular dystrophy (BVMD) from adult-onset vitelliform macular degeneration (AVMD).
Scientific reportsImpaired 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 sciencesClinical and visual electrophysiological characteristics of vitelliform macular dystrophies in the first decade of life.
Indian journal of ophthalmologyBilateral consecutive choroidal neovascularization in Best vitelliform macular dystrophy.
Proceedings (Baylor University. Medical Center)Choroidal Neovascularization Associated with Best Vitelliform Macular Dystrophy.
Beyoglu eye journalPersistent macular oedema following Best vitelliform macular dystrophy undergoing anti-VEGF treatment.
International journal of ophthalmologyA 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 SocietyNovel mutations in the BEST1 gene cause distinct retinopathies in two Chinese families.
International journal of ophthalmologyCorrelation of features on OCT with visual acuity and Gass lesion type in Best vitelliform macular dystrophy.
BMJ open ophthalmologyBest Vitelliform Macular Dystrophy (BVMD) is a phenocopy of North Carolina Macular Dystrophy (NCMD/MCDR1).
Ophthalmic geneticsIntravitreal bevacizumab treatment for exudative choroidal neovascularisation in best vitelliform macular dystrophy.
European journal of ophthalmologyClinical 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 OphthalmologieMultimodal imaging and genetic analysis of adult-onset best vitelliform macular dystrophy in Chinese patients.
Experimental and therapeutic medicineDisease expression caused by different variants in the BEST1 gene: genotype and phenotype findings in bestrophinopathies.
Acta ophthalmologicaStage-dependent choriocapillaris impairment in Best vitelliform macular dystrophy characterized by optical coherence tomography angiography.
Scientific reportsMultimodal Imaging Characteristics of Quiescent Type 1 Neovascularization in Best Vitelliform Macular Dystrophy.
Turkish journal of ophthalmologyPhenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Investigative ophthalmology & visual scienceMultimodal imaging in a case of best vitelliform macular dystrophy.
European journal of ophthalmologyNovel BEST1 mutation in autosomal recessive bestrophinopathy in Japanese siblings.
Taiwan journal of ophthalmologyCustomized 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.)Macular neovascularization in AMD, CSC and best vitelliform macular dystrophy: quantitative OCTA detects distinct clinical entities.
Eye (London, England)Multimodal imaging in subclinical best vitelliform macular dystrophy.
The British journal of ophthalmologyPredominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy.
The British journal of ophthalmologySHORT-TERM MODIFICATIONS OF ELLIPSOID ZONE IN BEST VITELLIFORM MACULAR DYSTROPHY.
Retina (Philadelphia, Pa.)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 OphthalmologieBilateral, Solitary, Extramacular Vitelliform Retinal Lesions in a Patient With Best Disease.
Journal of vitreoretinal diseasesOptical Coherence Tomography Angiography Quantitative Assessment of Macular Neovascularization in Best Vitelliform Macular Dystrophy.
Investigative ophthalmology & visual scienceDisease-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 OphthalmologieSmall Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium.
Investigative ophthalmology & visual scienceAnti-VEGF and Retinal Dystrophies.
Current drug targetsA novel mutation of BEST1 gene in Best disease.
European journal of ophthalmologyThe Clinical Features and Genetic Spectrum of a Large Cohort of Chinese Patients With Vitelliform Macular Dystrophies.
American journal of ophthalmologyAssociation of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.
JAMA ophthalmologyMutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.
International journal of molecular sciencesInhibition of Ca2+ channel surface expression by mutant bestrophin-1 in RPE cells.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologyOptical coherence tomography angiography in best vitelliform macular dystrophy.
Journal of current ophthalmologyInvestigation and Restoration of BEST1 Activity in Patient-derived RPEs with Dominant Mutations.
Scientific reportsOptical Coherence Tomography Angiography Imaging in Inherited Retinal Diseases.
Journal of clinical medicineClinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB).
GenesAppearance 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 OphthalmologieLarge, Spontaneous Macular Hole with Posterior Pole Detachment in a Patient with Best Vitelliform Macular Dystrophy.
Case reports in ophthalmologyPathogenicity of new BEST1 variants identified in Italian patients with best vitelliform macular dystrophy assessed by computational structural biology.
Journal of translational medicineMutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.
The British journal of ophthalmologyGeneration of Best disease-derived induced pluripotent stem cell line (FRIMOi006-A) carrying a novel dominant mutation in BEST1 gene.
Stem cell researchA Case of Best Disease Accompanied by Pachychoroid Neovasculopathy.
Turkish journal of ophthalmologyOuter Retinal Alterations Associated With Visual Outcomes in Best Vitelliform Macular Dystrophy.
American journal of ophthalmologyAltered ellipsoid zone reflectivity and deep capillary plexus rarefaction correlate with progression in Best disease.
The British journal of ophthalmologyNanomedicine-based Curcumin Approach Improved ROS Damage in Best Dystrophy-specific Induced Pluripotent Stem Cells.
Cell transplantationNovel BEST1 gene mutations associated with two different forms of macular dystrophy in Tunisian families.
Clinical & experimental ophthalmologyThe Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.
Biology openMultimodal Imaging in Best Vitelliform Macular Dystrophy.
Investigative ophthalmology & visual scienceChromatic pupilloperimetry for objective diagnosis of Best vitelliform macular dystrophy.
Clinical ophthalmology (Auckland, N.Z.)Normal electro-oculography in a young Omani male with genetically confirmed best disease complicated by choroidal neovascularization.
Oman journal of ophthalmologyBest vitelliform macular dystrophy in a large Brazilian family.
International journal of retina and vitreousClinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.
BioMed research internationalExpression and Purification of Mammalian Bestrophin Ion Channels.
Journal of visualized experiments : JoVENext generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.
Scientific reportsAtypical presentation of Best Disease.
Archivos de la Sociedad Espanola de OftalmologiaTreatment of Macular Degeneration with Sildenafil: Results of a Two-Year Trial.
Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift fur AugenheilkundeChoroidal Caverns: A Previously Unreported Optical Coherence Tomography Finding in Best Vitelliform Dystrophy.
Ophthalmic surgery, lasers & imaging retinaGeneration of induced pluripotent stem cells from a patient with Best Dystrophy carrying 11q12.3 (BEST1 (VMD2)) mutation.
Stem cell researchFindings of Optical Coherence Tomography Angiography in Best Vitelliform Macular Dystrophy.
Ophthalmic researchAssociation of Optic Nerve Head Drusen with Best Vitelliform Macular Dystrophy: A Case Series.
Case reports in ophthalmologyRetinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography.
American journal of ophthalmologyChoroidal neovascular membrane in paediatric patients: clinical characteristics and outcomes.
The British journal of ophthalmologyIMAGING OF VITELLIFORM MACULAR LESIONS USING POLARIZATION-SENSITIVE OPTICAL COHERENCE TOMOGRAPHY.
Retina (Philadelphia, Pa.)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 reportsINTRARETINAL HYPERREFLECTIVE FOCI IN BEST VITELLIFORM MACULAR DYSTROPHY.
Retina (Philadelphia, Pa.)Juvenile Macular Degenerations.
Seminars in pediatric neurologyAdult-Onset Vitelliform Macular Dystrophy caused by BEST1 p.Ile38Ser Mutation is a Mild Form of Best Vitelliform Macular Dystrophy.
Scientific reportsBestrophin 1 gene analysis and associated clinical findings in a Chinese patient with Best vitelliform macular dystrophy.
Molecular medicine reportsScreening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.
Investigative ophthalmology & visual scienceSPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY FEATURES IN DIFFERENT STAGES OF BEST VITELLIFORM MACULAR DYSTROPHY.
Retina (Philadelphia, Pa.)MICROPERIMETRY IN BEST VITELLIFORM MACULAR DYSTROPHY.
Retina (Philadelphia, Pa.)Optical coherence tomography in Best vitelliform macular dystrophy.
European journal of ophthalmologyOptical Coherence Tomography Examination of the Retinal Pigment Epithelium in Best Vitelliform Macular Dystrophy.
OphthalmologyBestrophin 1 and retinal disease.
Progress in retinal and eye researchBestrophinopathy: An RPE-photoreceptor interface disease.
Progress in retinal and eye researchChoroidal 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 StrabismusClinical and genetic heterogeneity in Slovenian patients with BEST disease.
Acta ophthalmologicaPHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY.
Retina (Philadelphia, Pa.)[Optical coherence tomography and fundus autofluorescence in Best macular dystrophy].
Journal francais d'ophtalmologieClinical and Genetic Findings of Autosomal Recessive Bestrophinopathy in Japanese Cohort.
American journal of ophthalmologyNovel BEST1 Mutations and Special Clinical Features of Best Vitelliform Macular Dystrophy.
Ophthalmic researchDetailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.
Documenta ophthalmologica. Advances in ophthalmologyBest Vitelliform Macular Dystrophy In Afghan Twins.
Journal of Ayub Medical College, Abbottabad : JAMCBilateral macular holes and a new onset vitelliform lesion in Best disease.
Ophthalmic geneticsA NOVEL P.ASP304GLY MUTATION IN BEST1 GENE ASSOCIATED WITH ATYPICAL BEST VITELLIFORM MACULAR DYSTROPHY PHENOTYPE AND HIGH INTRAFAMILIAL VARIABILITY.
Retina (Philadelphia, Pa.)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 OphthalmologieCHOROIDAL THICKNESS IN BEST VITELLIFORM MACULAR DYSTROPHY.
Retina (Philadelphia, Pa.)Quantitative Fundus Autofluorescence in Best Vitelliform Macular Dystrophy: RPE Lipofuscin is not Increased in Non-Lesion Areas of Retina.
Advances in experimental medicine and biologyRECURRENCE OF VITELLIFORM LESIONS ASSOCIATED WITH TEMPORARY VISION LOSS IN BEST VITELLIFORM MACULAR DYSTROPHY.
Retinal cases & brief reportsFocal Choroidal Excavation in Best Vitelliform Macular Dystrophy: Case Report.
Journal of clinical and diagnostic research : JCDRUsing Stem Cells to Model Diseases of the Outer Retina.
Computational and structural biotechnology journalNovel Mutation in BEST1 Associated with Atypical Best Vitelliform Dystrophy.
Optometry and vision science : official publication of the American Academy of OptometryTransepithelial resistance in human bestrophin-1 stably transfected Madin-Darby canine kidney cells.
Biotechnology, biotechnological equipmentRetinal 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 OphthalmologieTwo novel mutations in the bestrophin-1 gene and associated clinical observations in patients with best vitelliform macular dystrophy.
Molecular medicine reportsThe causes of hyperreflective dots in optical coherence tomography excluding diabetic macular edema and retinal venous occlusion§.
The open ophthalmology journalBestrophin-1 influences transepithelial electrical properties and Ca2+ signaling in human retinal pigment epithelium.
Molecular visionLong-Term Results of Photodynamic Therapy for Choroidal Neovascularization in Pediatric Patients with Best Vitelliform Macular Dystrophy.
Ophthalmic geneticsA 5-year-old girl with decreased vision in the left eye.
Digital journal of ophthalmology : DJOAssociações
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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.
- 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.
- Novel BEST1 variant associated with atypical vitelliform macular dystrophy in two siblings: phenotypic and genetic characterization.
- Review of the clinical electrooculogram - Part 2: the bestrophinopathies and modified protocols.
- The short wavelength electro-oculogram (SW-EOG) in best disease: preliminary results.
- Acquired Torpedo-like Maculopathy Associated With Macular Neovascularization in Best Vitelliform Macular Dystrophy.
- Gain of function in BEST1: photoreceptor changes and myopia in autosomal dominant vitreoretinochoroidopathy.
- Review of the clinical electrooculogram - Part 1: Mechanism of the Light-Rise.
- Ultra-Widefield Examination of the Peripheral Retina in BEST1 -related retinopathy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:1243(Orphanet)
- OMIM OMIM:153700(OMIM)
- MONDO:0007931(MONDO)
- GARD:182(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- 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
