A Distrofia Cristalina de Bietti (DCB) é uma doença genética rara e progressiva, de herança autossômica recessiva (o que significa que a pessoa precisa herdar um gene específico de cada um dos pais para desenvolvê-la), que causa a degeneração da retina e de suas camadas de suporte. Geralmente se manifesta entre os 20 e 30 anos de idade e é caracterizada por pequenos depósitos cristalinos brilhantes na parte de trás da retina e na borda da córnea, além do endurecimento (esclerose) dos vasos sanguíneos da coroide (uma camada de vasos que fica abaixo da retina). Os sintomas incluem cegueira noturna, diminuição da visão e pontos cegos próximos ao centro da visão, podendo levar à cegueira legal nos estágios finais da doença.
Introdução
O que você precisa saber de cara
A Distrofia Cristalina de Bietti (DCB) é uma doença genética rara e progressiva, de herança autossômica recessiva (o que significa que a pessoa precisa herdar um gene específico de cada um dos pais para desenvolvê-la), que causa a degeneração da retina e de suas camadas de suporte. Geralmente se manifesta entre os 20 e 30 anos de idade e é caracterizada por pequenos depósitos cristalinos brilhantes na parte de trás da retina e na borda da córnea, além do endurecimento (esclerose) dos vasos sanguíneos da coroide (uma camada de vasos que fica abaixo da retina). Os sintomas incluem cegueira noturna, diminuição da visão e pontos cegos próximos ao centro da visão, podendo levar à cegueira legal nos estágios finais da doença.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
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 28 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 recessive.
A cytochrome P450 monooxygenase involved in fatty acid metabolism in the eye. Catalyzes the omega-hydroxylation of polyunsaturated fatty acids (PUFAs) docosahexaenoate (DHA) and its precursor eicosapentaenoate (EPA), and may contribute to the homeostasis of these retinal PUFAs (PubMed:22772592). Omega hydroxylates saturated fatty acids such as laurate, myristate and palmitate, the catalytic efficiency decreasing in the following order: myristate > laurate > palmitate (C14>C12>C16) (PubMed:196612
Endoplasmic reticulum membrane
Bietti crystalline corneoretinal dystrophy
An autosomal recessive ocular disease characterized by retinal degeneration and marginal corneal dystrophy. Typical features include multiple glistening intraretinal crystals scattered over the fundus, a characteristic degeneration of the retina, and sclerosis of the choroidal vessels, ultimately resulting in progressive night blindness and constriction of the visual field. Most patients have similar crystals at the corneoscleral limbus. Patients develop decreased vision, nyctalopia, and paracentral scotomata between the 2nd and 4th decade of life. Later, they develop peripheral visual field loss and marked visual impairment, usually progressing to legal blindness by the 5th or 6th decade of life.
Variantes genéticas (ClinVar)
226 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas 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 — Distrofia cristalina de Bietti
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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
12 ensaios clínicos encontrados, 7 ativos.
Publicações mais relevantes
Exploration and Application of Multiluminance Mobility Test in Bietti Crystalline Dystrophy.
This study evaluated the multiluminance mobility test (MLMT) as a functional vision assessment tool for Bietti crystalline dystrophy (BCD) and explored its relationship with structural and visual function parameters. A retrospective study of 34 BCD patients (67 eyes) incorporated 2 additional low light levels (0.1 and 0.5 lux) into the MLMT. Visual function assessments included best-corrected visual acuity, visual field (VF), and microperimetry (MP). Macular structure was evaluated via spectral-domain optical coherence tomography. MLMT performance was correlated with these parameters using Spearman's rank correlation tests. Despite severe global photoreceptor dysfunction, a notable proportion of participants (38.8%) passed the MLMT at 1 lux or less, with 23.9% reaching the lowest luminance (0.1 lux). MLMT lux scores correlated significantly with best-corrected visual acuity (ρ = -0.5322; P = 0.0012), mean defect of VF (ρ = -0.5919; P = 0.0005), and mean macular sensitivity of MP (MS-MP; ρ = 0.7175; P < 0.0001). Subgroup analysis revealed that subjects with preserved foveal ellipsoid zone had significantly higher MLMT lux scores and better MS-MP (both P < 0.05) than those with ellipsoid zone atrophy. Although visual function parameters were markedly impaired in certain patients, their MLMT performance remained relatively favorable. The standardized MLMT has a limited range for assessing advanced BCD. Preservation of central macular structure, rather than visual acuity alone, appears to be critical for mobility performance in BCD patients. Disease-specific adaptations of functional end points are needed for BCD clinical trials. To assess functional vision for BCD, the MLMT requires adaptation, and clinical trials should incorporate macular structural parameters.
Gene therapy for Bietti crystalline corneoretinal dystrophy: A phase 1/2 clinical trial.
Bietti crystalline corneoretinal dystrophy (BCD) is an inherited retinal degeneration caused by bi-allelic variants in the CYP4V2 gene. Here, we report a phase 1/2, dose-escalation clinical study to assess the safety and efficacy of ZVS101e, an adeno-associated viral (AAV)-mediated gene-augmentation therapy (rAAV2/8-hCYP4V2), in 11 BCD patients with up to 365 days of follow-up (NCT05832684). ZVS101e showed a favorable safety profile, with no dose-limiting toxicities or drug-related serious adverse events. Inflammatory response was observed, primarily in the medium- and high-dose groups, which were effectively managed with corticosteroids. Efficacy was optimal in the low-dose group, with mean best-corrected visual acuity improvement of 14.0 letters and 50% of participants achieving clinically meaningful gains (≥15 letters). Functional assessments, including a multi-luminance mobility test and Visual Function Questionnaire-25, along with retinal structure, demonstrated consistent improvements. These results highlight ZVS101e's therapeutic potential for BCD, supporting further clinical development.
Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.
This study reports the rare co-occurrence of CYP4V2 (causing Bietti crystalline dystrophy, BCD) and LRTOMT (causing nonsyndromic hearing loss) variants within a single family and analyzes their clinical correlation. Exome sequencing was performed on three siblings with distinct clinical phenotypes. Sanger sequencing was used for variant confirmation. Although parental data was unavailable, the inheritance pattern was analyzed through co-segregation within the family. The proband, affected by both conditions, carried compound heterozygous variants in both CYP4V2 and LRTOMT genes. This correlated with more severe hearing loss compared to siblings carrying only LRTOMT variants. Siblings with isolated BCD or hearing loss carried variants only in the respective single gene. The findings suggest a double-compound heterozygous state in the proband. This case highlights the genetic complexity of multisensory disorders, where the co-inheritance of variants in distinct genes may lead to a more severe phenotype. It underscores the need for comprehensive genetic testing and counseling in affected families.
Intrascleral and Peripheral Retinal Crystals in Bietti Crystalline Dystrophy.
To report a case of intrascleral crystal deposition in a patient with genetically confirmed Bietti Crystalline Dystrophy (BCD). Case report of a 51-year-old Asian male with high myopia, nyctalopia since early adulthood and progressive visual decline. Clinical examination, fundus photography, infrared reflectance, spectral-domain OCT, and ultra-widefield swept-source (SS) OCT were performed. Genetic testing was performed to evaluate for pathogenic mutations in CYP4V2 . Pseudocolor fundus photography revealed yellow-white crystalline deposits primarily in the posterior pole with poor visualization of crystals more peripherally. Cross-sectional OCT localized hyperreflective deposits predominantly at the retinal pigment epithelium-Bruch's membrane complex, with additional foci in the outer and inner retina, accompanied by chorioretinal atrophy. Intrascleral crystals were also identified on spectral domain OCT. Ultra-widefield OCT extended the assessment beyond the vascular arcades, revealing peripheral zones of atrophy and scattered crystals not visible on standard field scans. Intrascleral crystal distribution may aid in broadening the phenotypic spectrum of BCD, supporting more accurate diagnosis and contributing to the understanding of its pathophysiology. UWF and multimodal imaging provide complementary insights into BCD extent and crystal localization. Infrared reflectance outperforms pseudocolor photography for crystal detection, while UWF-OCT expands structural evaluation into the periphery, potentially improving monitoring strategies.
The role of full-field stimulus threshold in evaluating Bietti crystalline dystrophy.
Visual functional testing methods are limited and cannot be well applied in all kinds of ocular diseases, especially those with low-vision. To determine whether full-field stimulus threshold (FST) is an effective method in evaluating Bietti crystalline dystrophy (BCD), with the capability in replacing other traditional visual functional methods, we designed the study. This study was a prospective cross-sectional observational study, conducted from September 2022 to March 2023. It was a sub-study of Beijing Tongren Eye Disease Clinical Database Biobank. The study was conducted in Beijing Tongren Hospital, Capital Medical University. BCD patients who were diagnosed based on clinical features, validated by whole-exome sequencing were included. The normal volunteers were included as control group. All BCD patients underwent comprehensive evaluations, including FST, best-corrected visual acuity (BCVA), color vision, microperimetry, full-field electroretinography (ffERG), optical coherence tomography (OCT), multimodal imaging system and 4 self-reported questionnaires. The normal control group subjects only conducted FST examination. The correlation between FST and BCVA, and the differences of FST values between disease severity groups, were evaluated. The BCVA logistic regression model, FST model and hybrid model's performance (area under the curve [AUC]) were tested in predicting disease severity. 43 BCD patients (40.60 ± 8.57 years, 22 female [51%]) and 36 normal volunteers (38.56 ± 12.42 years, 21 female [58%]) were included. FST showed a moderate correlation with BCVA scores. Stage 2 group exhibited notably lower FST values than the stage 3 group, while the severely diminished group showed remarkable lower FST values than the extinguished group. The hybrid model showed better performance (AUC = 0.9221 and 0.9496) than FST model (AUC = 0.9026 and 0.9429), better than BCVA model (AUC = 0.8549 and 0.8487) in predicting disease severity. The FST serves as a useful indicator for evaluating visual function and predicting the severity of disease in patients with BCD. The clinical implementation of FST value will serve as an important assay in various ocular diseases, necessitating further validation studies prior to its application.
Publicações recentes
Integrated transcriptomic and metabolomic analyses reveal distinct energy metabolic signatures and functional properties of RPE cells under two culture conditions.
Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.
Exploration and Application of Multiluminance Mobility Test in Bietti Crystalline Dystrophy.
Case Report: Clinical and genetic analysis of a Bietti crystalline dystrophy family with multisite crystalline deposits and a phenotype of macular hole combined with retinoschisis.
Intrascleral and Peripheral Retinal Crystals in Bietti Crystalline Dystrophy.
📚 EuropePMC107 artigos no totalmostrando 134
Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.
Ophthalmic geneticsExploration and Application of Multiluminance Mobility Test in Bietti Crystalline Dystrophy.
Translational vision science & technologyCase Report: Clinical and genetic analysis of a Bietti crystalline dystrophy family with multisite crystalline deposits and a phenotype of macular hole combined with retinoschisis.
Frontiers in medicineIntrascleral and Peripheral Retinal Crystals in Bietti Crystalline Dystrophy.
Retinal cases & brief reportsGene therapy for Bietti crystalline corneoretinal dystrophy: A phase 1/2 clinical trial.
Molecular therapy : the journal of the American Society of Gene TherapyA Very Early-Stage Case of Bietti Crystalline Dystrophy.
Ophthalmology. RetinaBietti crystalline corneoretinal dystrophy: Advances in understanding and gene therapeutic approaches.
Molecular visionBilateral retinal rescue through unilateral AAV8-CYP4V2 gene delivery in Bietti crystalline dystrophy.
Molecular therapy. Methods & clinical developmentThe role of full-field stimulus threshold in evaluating Bietti crystalline dystrophy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieAnti-vascular endothelial growth factor therapies in ophthalmology.
Medical hypothesis, discovery & innovation ophthalmology journalPreclinical studies of an AAV8-CYP4V2 gene therapy VGR-R01 for the treatment of Bietti crystalline dystrophy.
Molecular therapy. Methods & clinical developmentInborn Errors of Metabolism: Bietti Crystalline Dystrophy.
Advances in experimental medicine and biologyGeography, genes, and germs: An evolutionary entanglement.
Biomedical journalComprehensive genotypic and phenotypic analysis of Bietti crystalline dystrophy: insights from a large cohort study.
Science China. Life sciencesUnravelling CYP4V2: Clinical features, genetic insights, pathogenic mechanisms and therapeutic strategies in Bietti crystalline corneoretinal dystrophy.
Progress in retinal and eye researchIRE1α-mediated endoplasmic reticulum stress response regulates oxidative damage in CYP4V2 deficient human retinal pigment epithelial cells.
Biomedical journalCatering to the Era of Gene Therapy: An Objective Staging Strategy for Bietti Crystalline Dystrophy using Principal Component Regression.
American journal of ophthalmologyEnhanced genotype-phenotype analysis using multimodal adaptive optics and 3D protein structure in Bietti Crystalline Dystrophy.
American journal of ophthalmology case reportsNatural history of progressive vision loss in Bietti crystalline dystrophy: a model-based meta-analysis.
BMJ open ophthalmologyA 30-year-old man with Bietti crystalline dystrophy:a rare case report from Syria.
Annals of medicine and surgery (2012)Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.
European journal of human genetics : EJHGLongitudinal quantitative assessment of retinal crystalline deposits in bietti crystalline dystrophy.
BMC ophthalmologyRelationship between outer retinal tubulation, retinal volume, and visual field in Bietti crystalline dystrophy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieQuantitative swept-source optical coherence tomography angiography (SS-OCTA) analysis of macular microvascular alterations in Bietti crystalline dystrophy.
Photodiagnosis and photodynamic therapySafety and Vision Outcomes Following Gene Therapy for Bietti Crystalline Dystrophy: A Nonrandomized Clinical Trial.
JAMA ophthalmologyInvestigating Microperimetric Features in Bietti Crystalline Dystrophy Patients: A Cross-Sectional Longitudinal Study in a Large Cohort.
Investigative ophthalmology & visual scienceA multimodal imaging approach to investigate retinal oxygen and vascular dynamics, and neural dysfunction in bietti crystalline dystrophy.
Microvascular researchQuickly diagnosing Bietti crystalline dystrophy with deep learning.
iScienceOuter Retinal Tubulations in Bietti Crystalline Dystrophy.
Ophthalmology. RetinaEvaluating precision medicine approaches for gene therapy in patient-specific cellular models of Bietti crystalline dystrophy.
JCI insightDISCREPANCY BETWEEN FUNDUS AUTOFLUORESCENCE ABNORMALITY AND VISUAL FIELD LOSS IN BIETTI CRYSTALLINE DYSTROPHY.
Retina (Philadelphia, Pa.)Uncovering the role of ferroptosis in Bietti crystalline dystrophy and potential therapeutic strategies.
Cell communication and signaling : CCSTargeted lipidomics uncovers oxylipin perturbations and potential circulation biomarkers in Bietti's crystalline dystrophy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieCrystalline Hepatopathy Associated With Bietti Crystalline Dystrophy: A Striking Manifestation of Disordered Fatty Acid Metabolism.
The American journal of surgical pathologyIn vivo genome editing via CRISPR/Cas9-mediated homology-independent targeted integration for Bietti crystalline corneoretinal dystrophy treatment.
Nature communicationsGene replacement therapy in Bietti crystalline corneoretinal dystrophy: an open-label, single-arm, exploratory trial.
Signal transduction and targeted therapySustained Release Formulation of Hydroxypropyl-β-cyclodextrin Eye Drops Using Xanthan Gum.
Chemical & pharmaceutical bulletinLongitudinal Natural History Study of Visual Function in Bietti Crystalline Dystrophy: Implications for Early Intervention.
Investigative ophthalmology & visual sciencePhenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.
Progress in retinal and eye researchHighly efficient capture approach for the identification of diverse inherited retinal disorders.
NPJ genomic medicineEn face OCT analysis of Bietti's crystalline dystrophy.
American journal of ophthalmology case reportsBietti's crystalline dystrophy: genotyping and deep qualitative and quantitative phenotyping in preparation for clinical trials.
The British journal of ophthalmologyApplication of Electrophysiology in Non-Macular Inherited Retinal Dystrophies.
Journal of clinical medicineLongitudinal structure-function analysis of molecularly-confirmed CYP4V2 Bietti Crystalline Dystrophy.
Eye (London, England)Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologiePrevalence and optical coherence tomography analyses of outer retinal tubulations in Chinese population with inherited retinal diseases.
Eye (London, England)Unilateral macular neovascularization formation during the follow-up of a 15-year-old boy with Bietti crystalline dystrophy and the successful treatment outcome with a single intravitreal ranibizumab injection.
GMS ophthalmology casesBietti crystalline dystrophy complicated by choroidal neovascularization treated with a single dose of aflibercept.
Oman journal of ophthalmologyDiagnostic and Management Strategies of Bietti Crystalline Dystrophy: Current Perspectives.
Clinical ophthalmology (Auckland, N.Z.)An In-Depth Single-Gene Worldwide Carrier Frequency and Genetic Prevalence Analysis of CYP4V2 as the Cause of Bietti Crystalline Dystrophy.
Translational vision science & technologyCorneal deposits and nerve alterations in Bietti Corneoretinal Crystalline Dystrophy imaged using in vivo confocal microscopy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieCHARACTERIZATION OF MACULAR NEOVASCULARIZATION IN BIETTI CRYSTALLINE DYSTROPHY USING MULTIMODAL IMAGING MODALITIES.
Retina (Philadelphia, Pa.)OUTER RETINAL TUBULATION IN BIETTI CRYSTALLINE DYSTROPHY ASSOCIATED WITH THE RETINAL PIGMENT EPITHELIUM ATROPHY.
Retina (Philadelphia, Pa.)A patient advocating for transparent science in rare disease research.
Orphanet journal of rare diseasesOptical coherence tomography angiography in Bietti crystalline dystrophy.
European journal of ophthalmologyA Bietti Crystalline Dystrophy Mouse Model Shows Increased Sensitivity to Light-Induced Injury.
International journal of molecular sciencesVessel density and choroidal vascularity index in patients with Bietti crystalline dystrophy and retinitis pigmentosa.
Photodiagnosis and photodynamic therapyPresumed Bietti crystalline dystrophy with optic nerve head drusen: a case report.
Journal of medical case reportsCrystals lens deposits: a rare occurrence in Bietti corneo-retinal dystrophy.
The Pan African medical journalFoveolar thickness as potential standardized structural outcome measurement in studies of Bietti crystalline dystrophy.
Scientific reportsNon-vasogenic cystoid maculopathies.
Progress in retinal and eye researchAAV-mediated gene-replacement therapy restores viability of BCD patient iPSC derived RPE cells and vision of Cyp4v3 knockout mice.
Human molecular geneticsA novel mutation of CYP4V2 gene associated with Bietti crystalline dystrophy complicated by choroidal neovascularization.
International journal of ophthalmologyWhole-exome sequencing identified genes known to be responsible for retinitis pigmentosa in 28 Chinese families.
Molecular visionStructural and functional phenotypic features and molecular analysis of Indian patients with Bietti crystalline dystrophy.
Indian journal of ophthalmologyAsymptomatic Unilateral Full-Thickness Macular Hole in a Patient with Bietti Crystalline Dystrophy During 13-Year Follow-up with Optical Coherence Tomography.
Turkish journal of ophthalmologyAAV2-mediated gene therapy for Bietti crystalline dystrophy provides functional CYP4V2 in multiple relevant cell models.
Scientific reportsMultimodal Imaging Observation in Different Progressive Types of Bietti Crystalline Dystrophy.
Journal of ophthalmologyAccumulation of Lipid Droplets in a Novel Bietti Crystalline Dystrophy Zebrafish Model With Impaired PPARα Pathway.
Investigative ophthalmology & visual scienceMultimodal imaging of a rare cause of diffuse chorioretinal atrophy: Bietti crystalline dystrophy.
Journal francais d'ophtalmologieA novel and efficient murine model of Bietti crystalline dystrophy.
Disease models & mechanismsAnalysis of Radial Peripapillary Capillary Density in Patients with Bietti Crystalline Dystrophy by Optical Coherence Tomography Angiography.
Biomedical and environmental sciences : BESBietti crystalline dystrophy: Role of multimodal imaging and optical coherence tomography angiography.
Journal francais d'ophtalmologiePREDICTED PROTEIN STRUCTURE VARIATIONS INDICATE THE CLINICAL PRESENTATION OF CYP4V2-RELATED BIETTI CRYSTALLINE DYSTROPHY.
Retina (Philadelphia, Pa.)[Generation and characterization of Cyp4v3 gene knockout mice].
Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciencesA case of Bietti crystalline dystrophy with clinical, electrophysiological, and imaging findings.
Northern clinics of IstanbulA convenient test system for the identification of CYP4V2 inhibitors.
Molecular visionCYP4V2 fatty acid omega hydroxylase, a druggable target for the treatment of metabolic associated fatty liver disease (MAFLD).
Biochemical pharmacologyGenotype and Ocular Phenotype in Sixteen Chinese Patients with Bietti Corneoretinal Crystalline Dystrophy.
Current eye researchTargeted lipidomics reveals plasmalogen phosphatidylethanolamines and storage triacylglycerols as the major systemic lipid aberrations in Bietti crystalline corneoretinal dystrophy.
Journal of genetics and genomics = Yi chuan xue baoUtilizing Advanced Technology to Facilitate Diagnosis of Rare Retinal Disorders: A Case of Bietti Crystalline Dystrophy.
Optometry and vision science : official publication of the American Academy of OptometryNear-Infrared Reflectance Imaging in Retinal Diseases Affecting Young Patients.
Journal of ophthalmologyCrystals deposits in the anterior and posterior lens cortex in Bietti corneo-retinal dystrophy.
Ophthalmic geneticsIntereye Symmetry in Bietti Crystalline Dystrophy.
American journal of ophthalmologyExpanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy.
GenesObservation of the characteristics of the natural course of Bietti crystalline dystrophy by fundus fluorescein angiography.
BMC ophthalmologyNew compound heterozygous CYP4V2 mutations in bietti crystalline corneoretinal dystrophy.
GeneGeneration of a human induced pluripotent stem cell line from a Bietti crystalline corneoretinal dystrophy patient with CYP4V2 mutations.
Stem cell researchRETINAL AND CHOROIDAL BLOOD PERFUSION IN PATIENTS WITH BIETTI CRYSTALLINE DYSTROPHY.
Retina (Philadelphia, Pa.)Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
BMC medical genomicsGenotype and Long-term Clinical Course of Bietti Crystalline Dystrophy in Korean and Japanese Patients.
Ophthalmology. RetinaPredicting visual acuity in Bietti crystalline dystrophy: evaluation of image parameters.
BMC ophthalmology[Analysis of phenotype and CYP4V2 gene variants in two pedigrees affected with Bietti crystalline corneoretinal dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsRole of red free imaging, retinal reflectance and fundus autofluorescence in Bietti crystalline dystrophy: case report.
Therapeutic advances in rare disease[A late onset of Bietty crystalline dystrophy].
Journal francais d'ophtalmologieMultimodal imaging features and genetic findings in Bietti crystalline dystrophy.
BMC ophthalmologyPSCs Reveal PUFA-Provoked Mitochondrial Stress as a Central Node Potentiating RPE Degeneration in Bietti's Crystalline Dystrophy.
Molecular therapy : the journal of the American Society of Gene TherapyTreating Bietti crystalline dystrophy in a high-fat diet-exacerbated murine model using gene therapy.
Gene therapyOptical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy.
Ophthalmic geneticsNovel mutations in CYP4V2 in Bietti corneoretinal crystalline dystrophy: Next-generation sequencing technology and genotype-phenotype correlations.
Molecular visionPresence of corneal crystals confirms an unusual presentation of Bietti's retinal dystrophy.
Ophthalmic geneticsBietti crystalline dystrophy and choroidal neovascularization in childhood.
International journal of ophthalmologyBietti's crystalline dystrophy in Nepalese patients: when genetic analysis supports clinical diagnosis.
Ophthalmic geneticsCurrent perspectives in Bietti crystalline dystrophy.
Clinical ophthalmology (Auckland, N.Z.)CYP4V2 mutation screening in an Iranian Bietti crystalline dystrophy pedigree and evidence for clustering of CYP4V2 mutations.
Journal of current ophthalmologySwept-source Optical Coherence Tomography Angiography in a Patient with Bietti Crystalline Dystrophy Followed for Ten Years.
Turkish journal of ophthalmologyMultimodal Imaging for Differential Diagnosis of Bietti Crystalline Dystrophy.
Ophthalmology. RetinaLongitudinal adaptive optics fluorescence microscopy reveals cellular mosaicism in patients.
JCI insightComprehensive screening of CYP4V2 in a cohort of Chinese patients with Bietti crystalline dystrophy.
Molecular visionChoroidal structural analysis and vascularity index in retinal dystrophies.
Acta ophthalmologicaTOPICAL DORZOLAMIDE FOR CYSTOID MACULAR EDEMA IN BIETTI CRYSTALLINE RETINAL DYSTROPHY.
Retinal cases & brief reportsMultimodal imaging of Bietti's crystalline dystrophy.
Indian journal of ophthalmologyIdentification of novel CYP4V2 genotypes associated with Bietti crystalline dystrophy and atypical anterior segment phenotypes in Spanish patients.
Acta ophthalmologicaReduction of lipid accumulation rescues Bietti's crystalline dystrophy phenotypes.
Proceedings of the National Academy of Sciences of the United States of AmericaChoriocapillaris flow deficit in Bietti crystalline dystrophy detected using optical coherence tomography angiography.
The British journal of ophthalmologyOutcome of Macular Hole Surgery in Bietti Crystalline Dystrophy.
Journal of ophthalmic & vision researchChoroidal Vasculature in Bietti Crystalline Dystrophy With CYP4V2 Mutations and in Retinitis Pigmentosa With EYS Mutations.
Investigative ophthalmology & visual scienceLongitudinal characterisation of function and structure of Bietti crystalline dystrophy: report on a novel homozygous mutation in CYP4V2.
The British journal of ophthalmologyNovel gene mutation in a patient with Bietti crystalline dystrophy without corneal deposits.
Clinical & experimental ophthalmologyIdentification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy.
European journal of human genetics : EJHGDetailed functional and structural phenotype of Bietti crystalline dystrophy associated with mutations in CYP4V2 complicated by choroidal neovascularization.
Ophthalmic geneticsObjective Determination of Retinal Function in Bietti Crystalline Retinopathy.
Turkish journal of ophthalmologyA CASE OF CONE DYSTROPHY ASSOCIATED WITH CHOROIDAL NEOVASCULARIZATION.
Retinal cases & brief reportsCHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS.
Retina (Philadelphia, Pa.)Genetics of Bietti Crystalline Dystrophy.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.
Experimental eye researchAdaptive optics imaging of the outer retinal tubules in Bietti's crystalline dystrophy.
Eye (London, England)Bietti Crystalline Retinopathy Confirmed by Mutation of CYP4V2 Gene in a Korean Patient.
Korean journal of ophthalmology : KJOChoroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities.
Investigative ophthalmology & visual scienceEvaluation of Photoreceptors in Bietti Crystalline Dystrophy with CYP4V2 Mutations Using Adaptive Optics Scanning Laser Ophthalmoscopy.
American journal of ophthalmologyUTILIZATION OF FUNDUS AUTOFLUORESCENCE, SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY, AND ENHANCED DEPTH IMAGING IN THE CHARACTERIZATION OF BIETTI CRYSTALLINE DYSTROPHY IN DIFFERENT STAGES.
Retina (Philadelphia, Pa.)Re: Halford et al.: Detailed phenotypic and genotypic characterization of Bietti crystalline dystrophy (Ophthalmology 2014;121:1174-84).
OphthalmologyBietti crystalline dystrophy in a young woman.
JAMA ophthalmologyIdentification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti's crystalline corneoretinal dystrophy.
Molecular visionAssociações
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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.
- Exploration and Application of Multiluminance Mobility Test in Bietti Crystalline Dystrophy.
- Gene therapy for Bietti crystalline corneoretinal dystrophy: A phase 1/2 clinical trial.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41520174mais citado
- Compound heterozygous variants in CYP4V2 and LRTOMT coinciding in a single family: a rare case of combined Bietti crystalline dystrophy and nonsyndromic hearing loss.
- Intrascleral and Peripheral Retinal Crystals in Bietti Crystalline Dystrophy.
- The role of full-field stimulus threshold in evaluating Bietti crystalline dystrophy.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie· 2026· PMID 41258201mais citado
- Integrated transcriptomic and metabolomic analyses reveal distinct energy metabolic signatures and functional properties of RPE cells under two culture conditions.
- Case Report: Clinical and genetic analysis of a Bietti crystalline dystrophy family with multisite crystalline deposits and a phenotype of macular hole combined with retinoschisis.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:41751(Orphanet)
- OMIM OMIM:210370(OMIM)
- MONDO:0008865(MONDO)
- GARD:10050(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q4904691(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
