A Vitreorretinopatia Exsudativa Familiar (FEVR) é uma doença rara e hereditária dos olhos que afeta o vítreo (o gel que preenche o olho) e a retina (a camada que capta a luz). Ela é caracterizada pela formação incompleta ou anormal de vasos sanguíneos na retina periférica (a parte mais externa da retina), o que pode levar a manifestações clínicas (sinais e sintomas) variadas. Essas manifestações podem ir desde a ausência total de sintomas ou pequenas alterações, até casos mais graves como o descolamento de retina, que pode levar à cegueira.
Introdução
O que você precisa saber de cara
A Vitreorretinopatia Exsudativa Familiar (FEVR) é uma doença rara e hereditária dos olhos que afeta o vítreo (o gel que preenche o olho) e a retina (a camada que capta a luz). Ela é caracterizada pela formação incompleta ou anormal de vasos sanguíneos na retina periférica (a parte mais externa da retina), o que pode levar a manifestações clínicas (sinais e sintomas) variadas. Essas manifestações podem ir desde a ausência total de sintomas ou pequenas alterações, até casos mais graves como o descolamento de retina, que pode levar à cegueira.
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
Partes do corpo afetadas
+ 43 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 145 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
7 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, X-linked recessive.
Receptor for Wnt proteins (PubMed:30135577). Most frizzled receptors are coupled to the beta-catenin (CTNNB1) canonical signaling pathway, which leads to the activation of disheveled proteins, inhibition of GSK-3 kinase, nuclear accumulation of beta-catenin (CTNNB1) and activation of Wnt target genes (PubMed:30135577). Plays a critical role in retinal vascularization by acting as a receptor for Wnt proteins and norrin (NDP) (By similarity). In retina, it can be activated by Wnt protein-binding a
Cell membrane
Vitreoretinopathy, exudative 1
An autosomal dominant disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.
Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules. Dynein has ATPase activity; the force-producing power stroke is thought to occur on release of ADP. Plays a role in mitotic spindle assembly and metaphase plate congression (PubMed:27462074)
Cytoplasm, cytoskeleton
Charcot-Marie-Tooth disease, axonal, type 2O
An axonal form of Charcot-Marie-Tooth disease, a disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. Charcot-Marie-Tooth disease is classified in two main groups on the basis of electrophysiologic properties and histopathology: primary peripheral demyelinating neuropathies (designated CMT1 when they are dominantly inherited) and primary peripheral axonal neuropathies (CMT2). Neuropathies of the CMT2 group are characterized by signs of axonal degeneration in the absence of obvious myelin alterations, normal or slightly reduced nerve conduction velocities, and progressive distal muscle weakness and atrophy.
Regulator of cell surface receptor signal transduction. Plays a central role in retinal vascularization by regulating norrin (NDP) signal transduction. Acts in concert with norrin (NDP) to promote FZD4 multimerization and subsequent activation of FZD4, leading to promote accumulation of beta-catenin (CTNNB1) and stimulate LEF/TCF-mediated transcriptional programs. Suprisingly, it only activates the norrin (NDP)-dependent activation of FZD4, while it does not activate the Wnt-dependent activation
Cell membrane
Vitreoretinopathy, exudative 5
An autosomal dominant form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
Key downstream component of the canonical Wnt signaling pathway (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:18957423, PubMed:21262353, PubMed:22155184, PubMed:22647378, PubMed:22699938). In the absence of Wnt, forms a complex with AXIN1, AXIN2, APC, CSNK1A1 and GSK3B that promotes phosphorylation on N-terminal Ser and Thr residues and ubiquitination of CTNNB1 via BTRC and its subsequent degradation by the proteasome (PubMed:17524503, PubMed:18077326, PubMed:18086858, PubMed:189574
CytoplasmNucleusCytoplasm, cytoskeletonCell junction, adherens junctionCell junctionCell membraneCytoplasm, cytoskeleton, microtubule organizing center, centrosomeCytoplasm, cytoskeleton, spindle poleSynapseCytoplasm, cytoskeleton, cilium basal body
Colorectal cancer
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history.
Activates the canonical Wnt signaling pathway through FZD4 and LRP5 coreceptor. Plays a central role in retinal vascularization by acting as a ligand for FZD4 that signals via stabilizing beta-catenin (CTNNB1) and activating LEF/TCF-mediated transcriptional programs. Acts in concert with TSPAN12 to activate FZD4 independently of the Wnt-dependent activation of FZD4, suggesting the existence of a Wnt-independent signaling that also promote accumulation the beta-catenin (CTNNB1). May be involved i
Secreted
Norrie disease
Recessive disorder characterized by very early childhood blindness due to degenerative and proliferative changes of the neuroretina. Approximately 50% of patients show some form of progressive mental disorder, often with psychotic features, and about one-third of patients develop sensorineural deafness in the second decade. In addition, some patients have more complex phenotypes, including growth failure and seizure.
Acts as a coreceptor with members of the frizzled family of seven-transmembrane spanning receptors to transduce signal by Wnt proteins (PubMed:11336703, PubMed:11448771, PubMed:11719191, PubMed:15778503, PubMed:15908424, PubMed:16252235). Activates the canonical Wnt signaling pathway that controls cell fate determination and self-renewal during embryonic development and adult tissue regeneration (PubMed:11336703, PubMed:11719191). In particular, may play an important role in the development of t
MembraneEndoplasmic reticulum
Vitreoretinopathy, exudative 1
An autosomal dominant disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery. In many ways the disease resembles retinopathy of prematurity but there is no evidence of prematurity or small birth weight in the patient history.
May be involved in transcriptional regulation
Nucleus
Vitreoretinopathy, exudative 6
An autosomal dominant form of exudative vitreoretinopathy, a form of exudative vitreoretinopathy, a disorder of the retinal vasculature characterized by an abrupt cessation of growth of peripheral capillaries, leading to an avascular peripheral retina. This may lead to compensatory retinal neovascularization, which is thought to be induced by hypoxia from the initial avascular insult. New vessels are prone to leakage and rupture causing exudates and bleeding, followed by scarring, retinal detachment and blindness. Clinical features can be highly variable, even within the same family. Patients with mild forms of the disease are asymptomatic, and their only disease related abnormality is an arc of avascular retina in the extreme temporal periphery.
Variantes genéticas (ClinVar)
1,101 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 17 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
60 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 — Vitreorretinopatia exsudativa familiar
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
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
3 ensaios clínicos encontrados, 1 ativos.
Publicações mais relevantes
KIF11 prevents retinal endothelial ferroptosis in familial exudative vitreoretinopathy by inhibiting phosphorylation-driven PRDX1 phase separation.
Familial exudative vitreoretinopathy is a hereditary disorder predominantly affecting infants and young children, often leading to severe vision loss. Approximately 40% of patients carry mutations in Norrin/β-catenin pathway genes. Nevertheless, the downstream pathogenic mechanisms remain unclear. Here, by using bulk RNA sequencing and single-cell RNA sequencing analyses, we identify KIF11 as a key downstream effector in retinal endothelial cells. Lentivirus-mediated KIF11 overexpression partially restores vascular defects in endothelial cell-specific Ctnnb1 knockout mice. Functional and multi-omics studies reveal that β-catenin/KIF11 deficiency induces autophagy-accompanied ferroptosis. Mechanistically, KIF11 binds PRDX1, and the disrupted β-catenin/KIF11 axis releases the competitive restraint of KIF11 on Src-mediated PRDX1 phosphorylation, triggering subsequent liquid-liquid phase separation. Treatment with the ferroptosis inhibitor ferrostatin-1 or lentiviral overexpression of non-phosphorylatable PRDX1 partially rescues vascular defects in familial exudative vitreoretinopathy-associated mice. Overall, we elucidate a β-catenin/KIF11/PRDX1 axis-dependent ferroptosis mechanism in familial exudative vitreoretinopathy, highlighting ferroptosis-targeting and antioxidant strategies as potential therapies.
An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy.
Familial exudative vitreoretinopathy (FEVR) is an inherited disease of retinal vascular development, and mutations in the LRP5 gene are associated with this disease. In this study, we generated a new induced pluripotent stem cell (iPSC) line, SJTUXHi003-A, from a patient with a novel copy number variation (CNV), exons 19-21 deletion in LRP5. This iPSC line exhibited a normal male karyotype with positive pluripotency markers, and could differentiate into three germ layers in vitro, providing a valuable model for studying the pathological mechanism of FEVR in vitro.
Novel nonsense variant of KIF11 in a patient with MCLMR.
Microcephaly with or without chorioretinopathy, lymphedema or mental retardation is a rare KIF11-related disorder. Here we report the case of a patient with microcephaly, lymphedema, nystagmus and familial exudative vitreoretinopathy carrying a novel de novo KIF11 nonsense variant (NM_004523.4:p.Glu123Ter), which is considered pathogenic. This case expands the phenotypic range of KIF11 pathogenic variants and highlights the importance of early ophthalmological evaluation, genetic counseling and family assessment.
A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).
Frizzled-4 (FZD4) gene mutation is a known mechanism of familial exudative vitreoretinopathy (FEVR). To establish the pathogenicity of the novel FZD4 mutation c.A749G, functional studies are needed to connect this mutation to the patient's FEVR phenotypes. Fluorescence microscopy and co-immunoprecipitation (Co-IP) techniques were employed to determine the effect of FZD4 mutation on sub-cellular localization and interaction with partners. The activity of Norrin (NDP)/β-catenin pathway was assessed through the western blot and luciferase assays. Western blot was performed to evaluate the spatial and temporal expressions of the Fzd4 across various mouse tissues. The mutated [c.A749G (p.Y250C)] forms of Frizzled 4 (FZD4) constructs were successfully conducted. Wild-type FZD4 predominantly located in the cytoplasm and plasma membrane, while the mutant exhibited a tendency to aggregate at nuclear membrane and within the nucleus. Co-IP revealed preserved mutant FZD4-LRP5 (low-density lipoprotein receptor-related protein 5) binding, suggesting the formation of receptor complex was likely unaffected by this mutation. Overexpression of mutant FZD4 and NDP or activation with agonist R-Spordin 1 (RSPO1) reduced downstream signaling proteins, including phosphorylated β-catenin (p-β-catenin), and vascular endothelial growth factor (VEGF-A). β-catenin report activity was significant lower in mutant group (P < 0.05), aligning with attenuated pathway activation. Fzd4 exhibited broad tissue expression, and it was notably present during the early developmental stages of retinal and ocular formation in mice. The novel missense mutation c.A749G in the FZD4 gene may impair the Norrin/β-catenin signaling pathway and alter subcellular localization, thereby driving FEVR pathogenesis.
Comparative analysis of activation of macrophages/microglia in diabetic retinopathy and Familial Exudative Vitreoretinopathy.
Familial Exudative Vitreoretinopathy (FEVR) and Diabetic Retinopathy (DR) are two prominent retinal diseases. The role of macrophages/microglia in the vascular dynamics of FEVR and DR is unknown and thus addressed in this study. FZD4 knockout mouse, a model for FEVR in human characterized by genetic mutations affecting angiogenesis, exhibited reduced b-wave amplitudes and decreased vascular density, replicating human FEVR symptoms. Conversely, STZ-treated C57/BL6 mouse developed heightened fasting glucose levels, reduced insulin content, and increased retinal vasculature, aligning with DR features. Further analysis revealed significant differences in macrophage/microglia populations between the two diseases. In DR, a marked increase in both number and M2-like polarization of retinal macrophages/microglia was observed, contrasting with FEVR. Moreover, DR induced substantial proinflammatory differentiation of macrophages/microglia, evidenced by elevated cytokines such as IL-1β, TNF-α, and IFNɣ. Both conditions significantly upregulated Ang-1 and IL-10, with a more pronounced IL-10 increase in DR, suggesting a more active role in tissue and vessel remodeling. Notably, DR induced higher levels of anti-inflammatory factors like bFGF, TIMP-1, TGFβ1, and VEGF-A compared to FEVR, suggesting a balance of inflammation initiation, progression and resolution. These findings highlight the distinct roles of macrophages/microglia in FEVR and DR, providing insights into their contributions to disease pathogenesis and potential therapeutic strategies through reprogramming macrophages/microglia.
Publicações recentes
Novel variant c.428T>C in FZD4 gene in a pedigree affected by familial exudative vitreoretinopathy: clinical, functional, and structural characterization.
Surgical outcomes of familial exudative vitreoretinopathy-associated retinal detachment: a systematic review and meta-analysis.
Predicting mild familial exudative vitreoretinopathy with autosomal dominant inheritance using deep learning.
Complex Retinal Detachment in an Adult Patient With Familial Exudative Vitreoretinopathy: Challenges in Diagnosis and Management.
Outcomes of vitreoretinal surgery for familial exudative vitreoretinopathy: a systematic review and meta-analysis of the current literature.
📚 EuropePMC405 artigos no totalmostrando 200
KIF11 prevents retinal endothelial ferroptosis in familial exudative vitreoretinopathy by inhibiting phosphorylation-driven PRDX1 phase separation.
Nature communicationsDragging the macula: a comet‑like falciform retinal fold in NDP‑related familial exudative vitreoretinopathy in a child.
Eye (London, England)Novel nonsense variant of KIF11 in a patient with MCLMR.
Human genome variationMisdiagnosis in Referrals for Advanced Retinopathy of Prematurity.
Ophthalmology. RetinaA novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).
Scientific reportsAn induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy.
Stem cell researchEarly Onset High Myopia and Severe Anisometropia Associated With Familial Exudative Vitreoretinopathy of Irregular Dominant Inheritance in 11 Chinese Families: Analysis of Refraction Features and Pathogenic Variations.
Genetics researchComparative analysis of activation of macrophages/microglia in diabetic retinopathy and Familial Exudative Vitreoretinopathy.
Biochemistry and biophysics reportsSphingosine-1-phosphate receptor 2 inhibition ameliorates familial exudative vitreoretinopathy models.
The Journal of biological chemistryEncircling scleral buckling as sole therapy for retinal detachment and neovascularization in familial exudative vitreo retinopathy.
European journal of ophthalmologyAnalysis of familial exudative vitreoretinopathy (FEVR) cases in the UK 100 000 genomes project increases diagnostic rate and implicates heterozygous CTNND1 mutations in FEVR.
Journal of medical geneticsA Novel Frameshift Variant in KIF11 Causes Autosomal Dominant Familial Exudative Vitreoretinopathy in a Chinese Family.
Genetic testing and molecular biomarkersA novel TSPAN12 mutation causing retinitis pigmentosa-like appearance of familial exudative vitreoretinopathy.
Ophthalmic geneticsLate Reactivation of Retinopathy in a Treatment-Naive Female Adult Patient With History of Prematurity and ZNF408 Mutation.
Journal of vitreoretinal diseasesKIF11 variants in familial exudative vitreoretinopathy leading to mTORC1 overactivation and impaired cell cycle progression.
Human genomicsAnalysis of full-term neonatal eye disease screening results and trends from 2016 to 2023.
Scientific reportsSchisis-Like Presentations of Familial Exudative Vitreoretinopathy Caused by FZD4 Mutations.
Journal of vitreoretinal diseasesFeasibility of Multimodal Deep Learning for Automated Staging of Familial Exudative Vitreoretinopathy Using Color Fundus Photographs and Fluorescein Angiography.
Diagnostics (Basel, Switzerland)Refractive Error Correction With Glasses in Congenital Ocular Fundus Anomalies: A Retrospective Series of 18 Children With Different Disease Entities Followed Up for More Than 10 Years.
CureusA novel variant in the FZD4 gene leading to familial exudative vitreoretinopathy: A case report and literature review.
MedicineSevere Exudative Vitreoretinopathy Secondary to Homozygous PCDH12 Mutations.
Retinal cases & brief reportsEFFICACY AND VASCULAR REDEVELOPMENT OF ANTI-VASCULAR ENDOTHELIAL GROWTH FACTOR THERAPY FOR STAGE 2 EARLY-DIAGNOSED FAMILIAL EXUDATIVE VITREORETINOPATHY.
Retina (Philadelphia, Pa.)5' UTR variant in the NDP gene leads to incorrect splicing and familial exudative vitreoretinopathy.
Orphanet journal of rare diseasesRigid gas permeable contact lens correction for young children with special refractive errors.
Clinical & experimental optometryUnveiling Endothelial Cell Expression Profiles in FEVR: Identification of Key Genes Associated With Pathological Neovascularisation in a FZD4M105V Mouse Model.
Clinical & experimental ophthalmologyFive novel pathogenic FZD4 variants identified in familial exudative vitreoretinopathy.
Advances in ophthalmology practice and researchKIF11-related MCLMR presenting with FEVR-like retinopathy: first report in an Indian child.
Ophthalmic geneticsA genotype to phenotype relationship of exudative vitreoretinopathy in Loeys-Dietz syndrome due to a pathogenic variant in TGFBR2.
Ophthalmic geneticsClinical Characteristics and Long-term Visual Prognosis of Familial Exudative Vitreoretinopathy.
American journal of ophthalmologyCellular-Level Assessment of Macular Development in Patients With Familial Exudative Vitreoretinopathy Using Multimodal Imaging: A Prospective Cohort Study.
American journal of ophthalmologyEXCISION OF EXTENSIVE SUBRETINAL FIBROSIS ASSOCIATED WITH RHEGMATOGENOUS RETINAL DETACHMENTS IN PATIENTS WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
Retina (Philadelphia, Pa.)Familial Exudative Vitreoretinopathy in a Patient with Jacobsen Syndrome: A Case Report.
Korean journal of ophthalmology : KJOBilateral tractional retinal detachments complicating hemolytic-uremic syndrome.
American journal of ophthalmology case reportsRetinal parameter analysis and diagnostic potentail exploration in familial exudative vitreoretinopathy using ultra-widefield fundus photography.
International journal of retina and vitreousFamilial Exudative Vitreoretinopathy-Like Retinal Findings in Adams-Oliver Syndrome Type 2.
Clinical & experimental ophthalmologyAn analysis of LRP5 gene frequencies in infants with familial exudative vitreoretinopathy in Chongqing and Urumqi.
MedicineDiagnostic Accuracy of AI Models in Detecting Different Inherited Retinal Diseases: A Systematic Review and Meta-Analysis.
Translational vision science & technologyThe MDM2-p53 axis regulates norrin/frizzled4 signaling and blood-CNS barrier function.
Science signalingThe diagnostic value of ultra-widefield fundus imaging technology in early familial exudative vitreoretinopathy.
Ophthalmic geneticsDistinct structural mechanisms of LGR4 modulation by Norrin and RSPOs in Wnt/β-catenin signaling.
Nature communicationsPhenotyping and genotyping FEVR: Molecular genetics, clinical and imaging features, and therapeutics.
Progress in retinal and eye researchGenotypic Distribution and Clinical Correlations in Familial Exudative Vitreoretinopathy: A Single-Center Study.
Ophthalmology scienceNovel KIF11 Mutation Associated with Microcephaly, Chorioretinopathy and Impaired Intellectual Development: 20 Years of Follow-Up.
Children (Basel, Switzerland)A case of congenital heart defects and familial exudative vitreoretinopathy caused by activation of a cryptic splice donor in NOTCH1.
BMC medical genomicsRetinal vascularization from a new angle: A systematic review of temporal retinal vessel angles in familial exudative vitreoretinopathy.
Retina (Philadelphia, Pa.)DYRK1A syndrome presenting with a familial exudative vitreoretinopathy (FEVR)-like retinovascular phenotype.
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Retina (Philadelphia, Pa.)Ultra-Widefield Swept-Source OCTA Findings in Coats Plus Syndrome.
Ophthalmic surgery, lasers & imaging retinaRare pediatric retinal diseases: A review.
Indian journal of ophthalmologyImpact of neonatal family screening in early-onset management of TSPAN 12 positive Familial Exudative Vitreoretinopathy- a case report.
Retinal cases & brief reportsMacular Morphological Changes in Familial Exudative Vitreoretinopathy with Macular Traction on OCT.
Case reports in ophthalmologyTwo Cases of Rubinstein-Taybi Syndrome With Retinal Detachment.
CureusVessels Spanning Avascular Retina in Familial Exudative Vitreoretinopathy.
Ophthalmology. RetinaFluorescein Angiography May Predict Surgical Outcomes of Tractional Retinal Detachment in Familial Exudative Vitreoretinopathy.
Ophthalmology. RetinaFamilial exudative vitreoretinopathy caused by CTNNB1 gene de novo mutation in a Chinese family: a case report.
BMC pediatricsUnderlying Disease in Atypical Retinopathy of Prematurity.
American journal of ophthalmologyPediatric Eye Screening: Current Standards and Gaps in Care.
Ophthalmic surgery, lasers & imaging retinaINTRAOPERATIVE 3-DIMENSIONAL FLUORESCEIN ANGIOGRAPHY-GUIDED PARS PLANA VITRECTOMY FOR THE TREATMENT OF MULTIPLE RETINAL DISEASES.
Retina (Philadelphia, Pa.)Gene Variant Spectrum in Probands With Familial Exudative Vitreoretinopathy Using an Expanded Panel.
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Clinical & experimental ophthalmologyUtility of Fluorescein Angiography for Early Detection of Familial Exudative Vitreoretinopathy in Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects Due to CTNNB1 Variants.
Journal of pediatric ophthalmology and strabismusThe Evaluation of Ocular Posterior Segment Findings in 5527 Term Infants Using Smartphone-Based Fundus Imaging.
Journal of ophthalmologyLONG-TERM FUNCTIONAL AND CLINICAL OUTCOMES IN FAMILIAL EXUDATIVE VITREORETINOPATHY.
Retina (Philadelphia, Pa.)Optic Disc Drusen and Familial Exudative Vitreoretinopathy Phenotype: A Multimodal Imaging Perspective on a Rare Association.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyHighly asymmetric early presentation of FEVR requiring enucleation.
Ophthalmic geneticsAngiographic features of pediatric stage 4 familial exudative vitreoretinopathy with radial retinal folds.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieSURGICAL OUTCOMES OF TRACTIONAL MACULOPATHY ASSOCIATED WITH FAMILIAL EXUDATIVE VITREORETINOPATHY IN CHILDREN.
Retina (Philadelphia, Pa.)Clinical Profiles of Retinal Vasoproliferative Tumors.
Journal of vitreoretinal diseasesImprovement in Cystoid Macular Edema Secondary to Systemic Bevacizumab in a Patient With Coats Plus Syndrome.
Journal of vitreoretinal diseasesMidperipheral Microvascular Defects and Their Associations With Vitreoretinal Abnormalities in Early-Stage Familial Exudative Vitreoretinopathy.
Investigative ophthalmology & visual scienceDysfunction of Calcyphosine-Like gene impairs retinal angiogenesis through the MYC axis and is associated with familial exudative vitreoretinopathy.
eLifeFEVR combined with macular heterotopia in children presenting as pseudo-exotropia: a case report and literature review.
Frontiers in medicineAngiographic Characteristics in Mild Familial Exudative Vitreoretinopathy with Genetically Confirmed Autosomal Dominant Inheritance.
Ophthalmology. RetinaPRETERM FAMILIAL EXUDATIVE VITREORETINOPATHY: A NOVEL NONSENSE LRP5 MUTATION.
Retinal cases & brief reportsANATOMIC OUTCOMES OF LENS-SPARING VITRECTOMY FOR STAGE 3 OR 4 FAMILIAL EXUDATIVE VITREORETINOPATHY.
Retina (Philadelphia, Pa.)Aggressive Onset of a Progressive FEVR Phenotype in a Child With Novel Mutations in LRP5 and TSPAN12.
Journal of vitreoretinal diseasesLoss of ZNF408 attenuates STING-mediated immune surveillance in breast carcinogenesis.
iScienceThe Red Reflex Test and Leukocoria in Childhood.
Acta medica portuguesaCyanoacrylate glue for iatrogenic retinal breaks during vitrectomy in stage 5 familial exudative vitreoretinopathy.
Frontiers in medicineRevision of Initial Referral Diagnosis after Genotypic Confirmation of Familial Exudative Vitreoretinopathy.
Ophthalmology. RetinaFamilial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Ophthalmology scienceWide-field optical coherence tomography-angiography in familial exudative vitreoretinopathy.
Journal francais d'ophtalmologieFamilial exudative vitreoretinopathy (FEVR) in a child with a Jagged 1 variant identified on genetic testing.
Ophthalmic geneticsFluorescein Angiography of Floating Retinal Veins.
JAMA ophthalmologyCoats-Like Presentation of Familial Exudative Vitreoretinopathy Associated With a Novel LRP5 Variant.
Ophthalmic surgery, lasers & imaging retinaUnveiling novel LRP5 pathogenic variant in familial exudative vitreoretinopathy: Diverse phenotypic expressions in a mother-daughter duo.
European journal of ophthalmologyDiagnostic Role of Oral Fluorescein Angiography in Pediatric Ambulatory Clinics.
Ophthalmology. RetinaClinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.
Acta ophthalmologicaMultimodal imaging of white preretinal lesions in atypical familial exudative vitreoretinopathy: Case report and literature review.
American journal of ophthalmology case reportsIdentification of Novel FZD4 Mutations in Familial Exudative Vitreoretinopathy and Investigating the Pathogenic Mechanisms of FZD4 Mutations.
Investigative ophthalmology & visual scienceInvestigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Investigative ophthalmology & visual scienceCharacterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.
Molecular genetics and genomics : MGGMutations in TSPAN12 gene causing familial exudative vitreoretinopathy.
Human genomicsRetinopathy With Variant of Unknown Significance and Atypical Chorioretinal Coloboma in the Setting of Prematurity.
Ophthalmic surgery, lasers & imaging retinaDeciphering a crucial dimeric interface governing Norrin dimerization and the pathogenesis of familial exudative vitreoretinopathy.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologySevere isolated exudative vitreoretinopathy caused by biallelic FZD4 variants.
Clinical geneticsSuccessful Management of Familial Exudative Vitreoretinopathy with a Large Macular Hole Using Inverted Internal Limiting Membrane Flap Technique.
Case reports in ophthalmologyGenetic Characteristics and Clinical Manifestations of Foveal Hypoplasia in Familial Exudative Vitreoretinopathy.
American journal of ophthalmologyClinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Clinical geneticsIntra-Anterior Chamber Injection of Ranibizumab in Advanced Pediatric Vitreoretinal Diseases.
JAMA ophthalmologyWound healing and postoperative management in paediatric patients following 27-Gauge Transconjunctival Sutureless Vitrectomy for vitreoretinal conditions.
International wound journalPediatric retinal vascular disorders: From translational sciences to clinical practice.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyA Literary Pediatric Retina Fellowship With Michael T. Trese, MD.
Ophthalmic surgery, lasers & imaging retinaDe novel heterozygous copy number deletion on 7q31.31-7q31.32 involving TSPAN12 gene with familial exudative vitreoretinopathy in a Chinese family.
International journal of ophthalmologyFrameshift variants in the C-terminal of CTNNB1 cause familial exudative vitreoretinopathy by AXIN1-mediated ubiquitin-proteasome degradation condensation.
International journal of biological macromoleculesGenetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.
BMC ophthalmologyFamilial Exudative Vitreoretinopathy Initially Diagnosed as Incontinentia Pigmenti in an Asymptomatic Teenager: A Case Report.
Case reports in ophthalmologyEARLY-ONSET OF FAMILIAL EXUDATIVE VITREORETINOPATHY: Clinical Characteristics, Management, and Outcomes.
Retina (Philadelphia, Pa.)Patients With Dragged Optic Disc Vessels and Retinal Folds: Clinical Features, Multimodal Imaging, and Histopathology.
Ophthalmic surgery, lasers & imaging retinaWhole genome sequencing for inherited retinal diseases in the Korean National Project of Bio Big Data.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieMechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Cells[The role of endothelin-1 in the pathogenesis of familial exudative vitreoretinopathy].
Vestnik oftalmologiiFamilial Exudative Vitreoretinopathy-Like Phenotype in a Patient With Microcephaly and TUBGCP6 Mutations.
Journal of vitreoretinal diseasesFAMILIAL EXUDATIVE VITREORETINOPATHY WITH NASAL RETINAL INVOLVEMENT: A RARE PRESENTATION.
Retinal cases & brief reportsAN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.
Retina (Philadelphia, Pa.)Refractive Status and Biometric Characteristics of Children With Familial Exudative Vitreoretinopathy.
Investigative ophthalmology & visual scienceVessels characteristics in familial exudative vitreoretinopathy and retinopathy of prematurity based on deep convolutional neural networks.
Frontiers in pediatricsGenetic and clinical characteristics of ZNF408-related familial exudative vitreoretinopathy.
The Journal of international medical researchFamilial exudative vitreoretinopathy complicated with macular hole retinal detachment.
Oman journal of ophthalmologyPeripheral and central retinal vascular changes in asymptomatic family members of patients with familial exudative vitreoretinopathy.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieDefective EMC1 drives abnormal retinal angiogenesis via Wnt/β-catenin signaling and may be associated with the pathogenesis of familial exudative vitreoretinopathy.
Genes & diseasesPattern of choroidal thickness in early-onset high myopia.
Frontiers in medicineTwo types of childhood glaucoma secondary to familial exudative vitreoretinopathy.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusFive novel dysfunctional variants in the TSPAN12 gene in familial exudative vitreoretinopathy.
Experimental eye researchRapid Improvement in Lipid Maculopathy Following Faricimab Therapy in Recalcitrant Familial Exudative Vitreoretinopathy.
Ophthalmic surgery, lasers & imaging retinaCTNNB1-related neurodevelopmental disorder mimics cerebral palsy: case report.
Frontiers in pediatricsLONG-TERM CLINICAL OUTCOMES AND GENOTYPE-PHENOTYPE CORRELATION IN FAMILIAL EXUDATIVE VITREORETINOPATHY IN A TERTIARY REFERRAL CENTER.
Retina (Philadelphia, Pa.)The Characteristic of Optical Coherence Tomography Angiography and Retinal Arteries Angle in Familial Exudative Vitreoretinopathy with Inner Retinal Layer Persistence.
Current eye researchIdentification of Five Novel Variants in the TSPAN12 Gene in Chinese Families With Familial Exudative Vitreoretinopathy.
Translational vision science & technologyOptical Coherence Tomography and Optical Coherence Tomography Angiography in Pediatric Retinal Diseases.
Diagnostics (Basel, Switzerland)Loss of Tbx3 in Mouse Eye Causes Retinal Angiogenesis Defects Reminiscent of Human Disease.
Investigative ophthalmology & visual scienceWhole exome sequencing revealed novel pathogenic variants in Vietnamese patients with FEVR.
Molecular visionAn SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis.
JCI insight18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.
Ophthalmic surgery, lasers & imaging retinaVascular features around the optic disc in familial exudative vitreoretinopathy: findings and their relationship to disease severity.
BMC ophthalmologyOptical Coherence Tomography Angiography in Pediatric Retinal Disorders.
Journal of vitreoretinal diseasesOsteoporosis, Fractures, and Blindness Due to a Missense Mutation in the LRP5 Receptor.
Orthopedic research and reviewsMolecular and Cellular Regulations in the Development of the Choroidal Circulation System.
International journal of molecular sciencesNovel Exon 7 Deletions in TSPAN12 in a Three-Generation FEVR Family: A Case Report and Literature Review.
GenesAsymmetric familial exudative vitreoretinopathy in a premature infant misdiagnosed as retinopathy of prematurity.
Clinical & experimental optometryQuantitative Analysis of Vascular Abnormalities in Full-Term Infants With Mild Familial Exudative Vitreoretinopathy.
Translational vision science & technologyAvascular Peripheral Retina in Infants.
Turkish journal of ophthalmologyULTRA-WIDEFIELD OPTICAL COHERENCE TOMOGRAPHY ANGIOGRAPHY IN MILD FAMILIAL EXUDATIVE VITREORETINOPATHY.
Retina (Philadelphia, Pa.)Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.
Investigative ophthalmology & visual scienceSingle-cell transcriptomics-based multidisease analysis revealing the molecular dynamics of retinal neurovascular units under inflammatory and hypoxic conditions.
Experimental neurologyXp11.3 microdeletion causing Norrie disease and X-linked Kabuki syndrome.
American journal of ophthalmology case reportsPhenotype-Based Genetic Analysis Reveals Missing Heritability of KIF11-Related Retinopathy: Clinical and Genetic Findings.
GenesThe Diagnostic Yield of Next Generation Sequencing in Inherited Retinal Diseases: A Systematic Review and Meta-analysis.
American journal of ophthalmologyAbnormalities of the contralateral eye in unilateral congenital anophthalmic or blind microphthalmic patients.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusBiometric Variations in High Myopia Associated with Different Underlying Ocular and Genetic Conditions.
Ophthalmology scienceA comprehensive functional analysis on the pathogenesis of novel TSPAN12 and NDP variants in familial exudative vitreoretinopathy.
Clinical geneticsFamilial exudative vitreoretinopathy (FEVR) in a child with novel microarray-defined deletion of 11q14 previously diagnosed as retinopathy of prematurity (ROP).
Ophthalmic geneticsDual phenotype: co-occurring Leber congenital amaurosis and familial exudative vitreoretinopathy: a case report.
Ophthalmic geneticsClinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.
Annals of medicineMultimodal Retinal Imaging Findings in Two Cousins With VCAN-Related Vitreoretinopathy or Wagner Disease.
Ophthalmic surgery, lasers & imaging retinaSignal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series.
International journal of molecular sciencesDecrease of FZD4 exon 1 methylation in probands from FZD4-associated FEVR family of phenotypic heterogeneity.
Frontiers in medicineA novel splicing variant of VCAN identified in a Chinese family initially diagnosed with familial exudative vitreoretinopathy.
Molecular genetics & genomic medicineA boy with amblyopia and familial exudative vitreoretinopathy harboring a new mutation of LRP5 and OPA1: A case report.
Frontiers in geneticsGenetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.
Molecular genetics & genomic medicineGenomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Genetics in medicine : official journal of the American College of Medical GeneticsLRP5 BIALLELIC MUTATIONS CAUSE A HIGHER INCIDENCE OF SEVERE PHENOTYPE COMPARED WITH LRP5 MONOALLELIC MUTATION.
Retina (Philadelphia, Pa.)Atypical Adams-Oliver syndrome with typical ocular signs of familial exudative vitreoretinopathy.
International journal of ophthalmologyRETINAL MANIFESTATIONS OF WALKER-WARBURG SYNDROME IN TWO SIBLINGS WITH RXYLT1 MUTATIONS.
Retinal cases & brief reportsFamilial exudative vitreoretinopathy with total retinal detachment: Treatment for scleral buckling.
Asian journal of surgerySevere Familial Exudative Vitreoretinopathy, Congenital Hearing Loss, and Developmental Delay in a Child With Biallelic Variants in FZD4.
JAMA ophthalmologyLong-term clinical prognosis of 335 infant single-gene positive FEVR cases.
BMC ophthalmologyNoninvasive fetal genotyping of single nucleotide variants and linkage analysis for prenatal diagnosis of monogenic disorders.
Human genomicsNovel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report.
American journal of medical genetics. Part AMutation spectrum in a cohort with familial exudative vitreoretinopathy.
Molecular genetics & genomic medicineCombined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Ophthalmic geneticsGenotype-phenotype associations in familial exudative vitreoretinopathy: A systematic review and meta-analysis on more than 3200 individuals.
PloS oneCommentary: Familial exudative vitreoretinopathy-The masquerade in pediatric retinal disorders.
Indian journal of ophthalmologyManagement and surgical outcomes of pediatric retinal detachment associated with familial exudative vitreoretinopathy - Our experience at a tertiary care ophthalmic center in North India.
Indian journal of ophthalmologyHedgehog Signal Defect Leading to Familial Exudative Vitreoretinopathy-Like Disease and Gastrointestinal Malformation.
Turkish journal of ophthalmologyCTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis.
JCI insightOcular manifestations of Chinese patients with copy number variants in the NDP gene.
Molecular visionSpectrum of Mutations in NDP Resulting in Ocular Disease; a Systematic Review.
Frontiers in geneticsFamilial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del).
International journal of retina and vitreousDry-Lensectomy Assisted Lensectomy in the Management for End-Stage Familial Exudative Vitreoretinopathy Complicated With Anterior Segment Abnormalities.
Frontiers in medicinePseudoretinoblastoma: Distribution based on gender, age, and laterality.
European journal of ophthalmologyFoveal hypoplasia and characteristics of optical components in patients with familial exudative vitreoretinopathy and retinopathy of prematurity.
Scientific reportsChanging trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom.
European journal of ophthalmologyUpdate on the Phenotypic and Genotypic Spectrum of KIF11-Related Retinopathy.
GenesWide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions.
Journal of pediatric ophthalmology and strabismusPlanned Preterm Delivery and Treatment of Severe Infantile FEVR With Osteoporosis-Pseudoglioma Syndrome.
Ophthalmic surgery, lasers & imaging retinaA novel frameshift variant in the TSPAN12 gene causes autosomal dominant FEVR.
Molecular genetics & genomic medicineCoats plus in prematurity.
Ophthalmic geneticsFZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.
Investigative ophthalmology & visual scienceOCULAR FEATURES ASSOCIATED WITH MUTATIONS IN ATOH7 GENE OVERLAP THOSE WITH FAMILIAL EXUDATIVE VITREORETINOPATHY.
Retinal cases & brief reportsSevere retinal complications in Knobloch Syndrome - Three siblings without clinically apparent occipital defects and a review of the literature.
Ophthalmic geneticsNovel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy.
Journal of medical geneticsNDP-related retinopathies: clinical phenotype of female carriers.
The British journal of ophthalmologyWhole exome sequencing revealed 14 variants in NDP, FZD4, LRP5, and TSPAN12 genes for 20 families with familial exudative vitreoretinopathy.
BMC medical genomicsIdentification of Two Novel Variants in the LRP5 Gene that Cause Familial Exudative Vitreoretinopathy.
Genetic testing and molecular biomarkersOcular findings associated with FADD deficiency resemble familial exudative vitreoretinopathy.
American journal of ophthalmology case reportsUnfolding falciform folds and their consequences - To touch or not to touch.
Indian journal of ophthalmologyStructure and function of the retina of low-density lipoprotein receptor-related protein 5 (Lrp5)-deficient rats.
Experimental eye researchAssociações
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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.
- KIF11 prevents retinal endothelial ferroptosis in familial exudative vitreoretinopathy by inhibiting phosphorylation-driven PRDX1 phase separation.
- An induced pluripotent stem cell line (SJTUXHi003-A) derived from a patient with copy number variation in the gene LRP5 causing familial exudative vitreoretinopathy.
- Novel nonsense variant of KIF11 in a patient with MCLMR.
- A novel variant p.Y250C of FZD4 influences Norrine/β-catenin signaling pathway that associates with familial exudative vitreoretinopathy (FEVR).
- Comparative analysis of activation of macrophages/microglia in diabetic retinopathy and Familial Exudative Vitreoretinopathy.
- Novel variant c.428T>C in FZD4 gene in a pedigree affected by familial exudative vitreoretinopathy: clinical, functional, and structural characterization.
- Surgical outcomes of familial exudative vitreoretinopathy-associated retinal detachment: a systematic review and meta-analysis.
- Predicting mild familial exudative vitreoretinopathy with autosomal dominant inheritance using deep learning.
- Complex Retinal Detachment in an Adult Patient With Familial Exudative Vitreoretinopathy: Challenges in Diagnosis and Management.
- Outcomes of vitreoretinal surgery for familial exudative vitreoretinopathy: a systematic review and meta-analysis of the current literature.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:891(Orphanet)
- MONDO:0019516(MONDO)
- GARD:1613(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q5432936(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
