Um problema que acontece durante a formação dos olhos, onde uma estrutura inicial de gelatina que preenche o olho (o corpo vítreo primário) e os vasos sanguíneos que a nutriam não desaparecem como deveriam. Geralmente, afeta apenas um olho e se manifesta por: catarata; olhos menores que o normal (microftalmia); e um tecido fibroso com vasos sanguíneos que fica atrás da lente do olho.
Introdução
O que você precisa saber de cara
Um problema que acontece durante a formação dos olhos, onde uma estrutura inicial de gelatina que preenche o olho (o corpo vítreo primário) e os vasos sanguíneos que a nutriam não desaparecem como deveriam. Geralmente, afeta apenas um olho e se manifesta por: catarata; olhos menores que o normal (microftalmia); e um tecido fibroso com vasos sanguíneos que fica atrás da lente do olho.
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
+ 13 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 33 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
3 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
Transcription factor that binds to DNA at the consensus sequence 5'-CAG[GC]TG-3' (PubMed:31696227). Dimerization with TCF3 isoform E47 may be required in certain situations (PubMed:31696227). Binds to gene promoters and enhancer elements, and thereby regulates a transcriptional program of retinal ganglion cell (RGC) determinant genes (By similarity). Although the exact mechanism is not certain, retinal transcription regulation by ATOH7 has a role in RGC determination and survival, photoreceptor
NucleusPerikaryonCell projection, axon
Persistent hyperplastic primary vitreous, autosomal recessive
A developmental eye malformation associated with microphthalmia, cataract, glaucoma, and congenital retinal non-attachment. It is due to failure of the primary vitreous to regress in utero, resulting in the presence of a retrolental fibrovascular membrane with persistence of the posterior portion of the tunica vasculosa lentis and hyaloid artery. Disease manifestations range from a trivial remnant of hyaloid vessels to a dense fibrovascular mass causing lens opacity and retinal detachment.
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.
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.
Variantes genéticas (ClinVar)
404 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 9 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 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 — Vítreo primário hiperplásico persistente
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
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review.
Neonatal protein C (PC) deficiency, which presents with purpura fulminans or hemorrhagic infarction, has a poor prognosis. In a sporadic case of prenatal-onset purpura fulminans, preemptive intervention saved the patient but not her vision. Among 38 survivors from 47 cases with ocular lesions and biallelic PROC variants, 23 had total blindness and eight had unilateral blindness. Only one had intact vision. Prenatal-onset ocular lesions occurred in 11 cases (29% [corneal opacities, n = 7; bilateral persistent hyperplastic primary vitreous, n = 1; both, n = 3]). The eyes are the first organ affected by heritable severe PC deficiency. Prenatal intervention is needed to improve visual outcomes.
Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.
Persistent hyperplastic primary vitreous (PHPV), also known as persistent fetal vasculature, is a rare congenital ocular developmental anomaly that can lead to significant visual impairment if not promptly recognized and managed. We present a case of a one-month-old male infant who presented with decreased opening of the left eye and leukocoria. Clinical examination revealed a white pupillary reflex with absent visual fixation. Ophthalmoscopic evaluation demonstrated a grey retrolental mass with prominent vascular loops. B-scan ultrasonography identified a characteristic retrolental mass connected to the optic nerve head by a thin stalk. Magnetic resonance imaging confirmed the diagnosis, revealing microphthalmos with a V-shaped retrolental fibrovascular mass extending to the optic nerve head, accompanied by complete retinal detachment and vitreous hemorrhage. The absence of calcification helped differentiate this condition from retinoblastoma. Due to the severity of structural abnormalities and poor visual prognosis, enucleation with serial conformer placement was performed. This case highlights the importance of multimodal imaging in diagnosing PHPV and emphasizes the role of MRI in surgical planning and excluding associated intracranial anomalies.
Surgical treatment of a unilateral congenital cataract with persistent hyperplastic primary vitreous using double optic capture with a 20 year follow-up and review of the literature.
To describe the long term follow-up of surgical intervention with the technique of Double Optic Capture to surgically treat a unilateral congenital cataract with hyperplastic primary vitreous and the ability to perform intraocular lens exchange of a double captured intraocular lens 17 years after the initial procedure. An eight week old with unilateral cataract with persistent hyperplastic primary vitreous of the left eye had cataract surgery which included anterior capsulorhexis, a primary posterior capsulorhexis, anterior vitrectomy and placement of a posterior chamber intraocular lens implantation through both capsulotomy openings (double optic capture). Fourteen years later, patient was best corrected to 20/20 vision with a refraction of -14.75-2.00 x 100. Due to difficulties with anisometropia, the patient underwent successful intraocular lens exchange. The intraocular lens was able to be successfully removed from its double captured position and a new implant was successfully re-captured through the fused capsule. Two years follow-up after IOL exchange, the implant was well centered and clear of any secondary membranes or scar tissue with a best corrected visual acuity of 20/20-2. This represents one of the longest reported follow-up with not only unilateral cataract with persistent hyperplastic primary vitreous, but also of the technique of double optic capture and successful intraocular lens exchange following the technique of double optic capture.
Choroidal Neovascularization in Peripapillary Persistent Fetal Vasculature Syndrome: A Possible Sequela of Nonsurgical Management.
Persistent fetal vasculature (PFV) refers to a spectrum of developmental ocular anomalies due to incomplete regression of embryonic vasculature. PFV may present with a wide range of manifestations and visual consequences. We report a rare manifestation of PFV wherein an exudative choroidal neovascular membrane formed in association with the posterior origin of the fibrovascular stalk. While most PFV stalks arise from the optic disc, the stalk in this case originated away from the disc in the inferonasal peripapillary area and had not undergone surgical transection. The patient was treated with intravitreal anti-vascular endothelial growth factor injections with sustained improvement in vision and exudation.
Refractive changes after cataract removal in infancy: comparing eyes with and without persistent fetal vasculature.
To evaluate the refractive changes after congenital cataract surgery in persistent fetal vasculature (PFV) vs. non-PFV eyes. Retrospective study of 75 eyes with PFV or non-PFV congenital cataract, who underwent surgery before age 7 months (unilateral/first operated eye), during 2007-2018 at a tertiary referral center, with follow-up ≥ one-year. 27 eyes (36%) had PFV, 48 were non-PFV cataracts. Mean age (± SD) at surgery in children with PFV was 2.24 ± 1.23 months and 2.44 ± 1.51 months in the non-PFV group. Mean post-operative follow-up was 64.94 ± 34.67 months. 60% of the eyes remained aphakic for the entire follow-up. In aphakic children, the mean post-operative spherical equivalent (SE) in the PFV eye was + 18.74D, + 15.73D, + 13.88D, + 12.51D, + 11.29D at one-month, one-year, two-years, three-years and five-years respectively. In the non-PFV eye the SE was + 23.00D, + 20.44D, + 17.84D, + 17.52D, + 18.48D at one-month, one-year, two-years, three-years and five-years respectively. During the entire post-operative course, the SE remained less hyperopic in the PFV eyes (p < 0.01). The rate of emmetropization was similar for PFV and non-PFV eyes. Five-years after surgery the mean myopic shift was -6.82 ± 4.32 D in the PFV eyes and -5.47 ± 2.44D in the non-PFV eyes (p > 0.05). The changes in refraction error did not correlate with either presence of glaucoma, secondary cataract, amblyopia or strabismus. Eyes with PFV have a similar rate of emmetropization as other pediatric congenital cataracts. Interestingly, aphakic PFV eyes have a less hyperopic refraction during one-month and up to five-years after surgery as compared to non-PFV eyes.
Publicações recentes
Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.
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A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review.
Histopathologic findings of the lens capsule and persistent hyperplastic primary vitreous in Korean pediatric cataract patients.
📚 EuropePMC203 artigos no totalmostrando 194
Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.
CureusSurgical treatment of a unilateral congenital cataract with persistent hyperplastic primary vitreous using double optic capture with a 20 year follow-up and review of the literature.
American journal of ophthalmology case reportsChoroidal Neovascularization in Peripapillary Persistent Fetal Vasculature Syndrome: A Possible Sequela of Nonsurgical Management.
Ophthalmic surgery, lasers & imaging retinaRefractive changes after cataract removal in infancy: comparing eyes with and without persistent fetal vasculature.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieA novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
Ophthalmic geneticsOnset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review.
Pediatric blood & cancerClinical Classification and Management Outcomes of Anterior Segment-Dominated Persistent Fetal Vasculature: The CCPMOH Report.
American journal of ophthalmologyHistopathologic findings of the lens capsule and persistent hyperplastic primary vitreous in Korean pediatric cataract patients.
Scientific reportsA persistent fetal vasculature: A case report.
Radiology case reportsWagner Syndrome-like fundus presentation of atypical Persistent Fetal Vasculature.
European journal of ophthalmologyOverlapping clinical features of persistent fetal vasculature and combined hamartoma of the retina and retinal pigment epithelium.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusMicrocephaly with or without chorioretinopathy, lymphedema, or mental retardation (MCLMR)- the new lacunae: a case report.
BMC ophthalmologyPersistent foetal vasculature masquerading as Peters anomaly.
Eye (London, England)Fetal eye ultrasound: Normal anatomy, abnormal findings, and clinical impact.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)Papillary Traction Due to the Posterior Form of a Bilateral Persistent Fetal Vasculature Mimicking Papilledema.
CureusReappearance of excentric persistent fetal vasculature stalk following laser treatment in a patient with type 1 retinopathy of prematurity.
European journal of ophthalmologyClinical and genetic characteristics and natural history of Finnish families with familial exudative vitreoretinopathy due to pathogenic FZD4 variants.
Acta ophthalmologicaLeukocoria Due to Persistent Hyperplastic Primary Vitreous.
JAMA ophthalmologyPersistent Fetal Vasculature: Current Insights and Future Directions.
Seminars in ophthalmologyUntreated combined persistent fetal vasculature with "coralliform" cataract in a Hispanic 21 year-old male.
Archivos de la Sociedad Espanola de OftalmologiaPrimary orbital rhabdoid tumour masquerading as atypical persistent foetal vasculature.
BMJ case reports"Strabismus in children" is not simple - bilateral persistent hyperplasia primary vitreous: a case report.
The Journal of international medical researchCASE SERIES OF PROGRESSIVE RETINAL DETACHMENTS IN PERSISTENT FETAL VASCULATURE.
Retinal cases & brief reportsProfile of a large cohort of children with persistent fetal vasculature and their predictors of poor visual outcome in a tertiary eye hospital in Saudi Arabia.
European journal of ophthalmologyPrenatal Ultrasound Diagnosis of Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome with Persistent Hyperplastic Primary Vitreous: A Case Report.
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Eye (London, England)Outcomes and Complications 5 Years After Surgery for Pediatric Cataract Associated With Persistent Fetal Vasculature.
American journal of ophthalmologyOCT-angiography findings in posterior persistent fetal vasculature.
Journal francais d'ophtalmologieAN EIGHT-YEAR RETROSPECTIVE STUDY OF THE ETIOLOGIES, CLINICAL CHARACTERISTICS, AND VISUAL OUTCOMES OF PEDIATRIC LAMELLAR MACULAR HOLE.
Retina (Philadelphia, Pa.)Multimodal imaging of morning glory syndrome with persistent hyperplastic primary vitreous.
Journal of clinical ultrasound : JCUMicrovascular Flow Ultrasound Imaging for Persistent Fetal Vasculature.
Ophthalmology. RetinaAssociation of Bergmeister Papilla and Deep Optic Nerve Head Structures With Prelaminar Schisis of Normal and Glaucomatous Eyes.
American journal of ophthalmologyRare coexistence of Mittendorf dot with persistent hyaloid artery in a young Asian child.
Journal francais d'ophtalmologieIntraoperative OCT Angiography in Pediatric Patients with Persistent Fetal Vasculature.
Ophthalmology. RetinaCoexistence of persistent fetal vasculature and retinoblastoma in the same eye.
Boletin medico del Hospital Infantil de MexicoLens-Sparing Surgery for Retrolental Stalk in Persistent Fetal Vasculature.
American journal of ophthalmologyBevacizumab as adjunctive therapy in anterior persistent fetal vasculature.
European journal of ophthalmologyNon-typical persistent hyperplastic primary vitreous: a rare case report and review of the literature.
BMC ophthalmologySevere anterior persistent fetal vasculature: the role of anterior retinal elongation on prognosis.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieRadial peripapillary capillary network in optic disc anomalies with abnormal tissues on disc surface.
Indian journal of ophthalmology[Imaging of posterior persistent fetal vasculature].
Journal francais d'ophtalmologieManagement and Outcomes of Posterior Persistent Fetal Vasculature.
OphthalmologyRetrospective Analysis of Surgical Outcomes on Axial Length Elongation in Eyes with Posterior and Combined Persistent Fetal Vasculature.
International journal of molecular sciencesMolecular and Cellular Regulations in the Development of the Choroidal Circulation System.
International journal of molecular sciencesApplication of immersion B-scan ultrasonography in diagnosis of complex retinal detachment, persistent hyperplastic primary vitreous and intraocular tumors.
International journal of ophthalmologyMorning Glory Syndrome With Bergmeister Papilla and Retinal Detachment.
JAMA ophthalmologyProgression of bilateral morning glory syndrome associated with unilateral persistent fetal vasculture: A case report of long term follow-up in an infant.
European journal of ophthalmologyPersistent hyperplastic primary vitreous in a child with incontinentia pigmenti and infantile spasms.
Oman journal of ophthalmologyFirst implication of MIP in bilateral microphthalmia with persistent fetal vasculature.
American journal of medical genetics. Part A[Research progress of persistent hyperplastic primary vitreous with Peters anomaly].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyLate surgery for unilateral persistent fetal vasculature: long-term visual and anatomic outcomes.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusPrenatal Ultrasound Diagnosis of Persistent Hyperplastic Primary Vitreous with Retinoblastoma.
Fetal diagnosis and therapyCase report: tuberous sclerosis and persistent hyperplastic primary vitreous.
BMC ophthalmologySurgical outcomes of posterior persistent fetal vasculature syndrome: cases with tent-shaped and closed funnel-shaped retinal detachment.
Eye (London, England)[Aniridia, persistent tunica vasculosa lentis and foveal hypoplasia].
Journal francais d'ophtalmologieChanging trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom.
European journal of ophthalmologyLong-Term Follow-Up of Recurrent Spontaneous Hyphema Caused by Ruptured Persistent Fetal Vasculature.
Klinische Monatsblatter fur AugenheilkundeWide-field Fundus Imaging and Fluorescein Angiography Findings in Various Pseudoretinoblastoma Conditions.
Journal of pediatric ophthalmology and strabismusSecondary glaucoma caused by a special type of persistent fetal vasculature.
International ophthalmologyPersistent Hyperplastic Primary Vitreous with Microphthalmia and Coloboma in a Patient with Okur-Chung Neurodevelopmental Syndrome.
Molecular syndromologyCTNNB1 gene mutation associated with neurodevelopmental disorder, microcephaly, and persistence of bilateral hyperplastic primary vitreous: A case report and literature review.
Archivos de la Sociedad Espanola de OftalmologiaA case of anterior persistent hyperplastic primary vitreous associated with morning glory disc anomaly and retinopathy of prematurity like retinopathy in a term-born child.
BMC ophthalmologyPseudo-hyaloidal Stalk in Anterior Persistent Fetal Vasculature: A Report of Two Cases.
Turkish journal of ophthalmologyAngiography of Florid Tunica Vasculosa Lentis in Persistent Fetal Vasculature.
Journal of pediatric ophthalmology and strabismusBilateral anterior segment dysgenesis and persistent fetal vasculature associated with terminal 10q26 deletion.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusIdentification of Key Genes and Pathways in Persistent Hyperplastic Primary Vitreous of the Eye Using Bioinformatic Analysis.
Frontiers in medicinePersistent Fetal Vasculature Imaged by Multi-modality Ultrasound.
Journal of pediatric ophthalmology and strabismusThe Final Diagnosis: Retinoblastoma or Pseudoretinoblastoma.
Journal of pediatric ophthalmology and strabismusTree-Ring Sign: Progression of Retinal Detachment Secondary to Persistent Fetal Vasculature.
OphthalmologyAnalysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations.
European journal of ophthalmologyCongenital eyelid imbrication syndrome with microphthalmia: a case report.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusBilateral Persistent Hyperplastic Primary Vitreous: A Case Report and Review of the Literature.
CureusDiagnostic accuracy of Quantitative Colour Doppler Flow imaging in distinguishing Persistent Fetal Vasculature from Retinal Detachment.
Acta ophthalmologicaAtypical presentation of peripheral posterior lenticonus and role of multi-modal ocular imaging in its diagnosis and management.
BMJ case reportsLaminaria-like Vitreoschisis in Persistent Fetal Vasculature.
Ophthalmology. RetinaUnilateral Leukocoria in an Infant.
CureusDiagnostic and Management Strategies in Patients with Persistent Fetal Vasculature: Current Insights.
Clinical ophthalmology (Auckland, N.Z.)Central retinal artery and vein occlusion as a complication of persistent hyaloid artery - a case report.
BMC ophthalmologyHyphema as First Manifestation of Persistent Fetal Vasculature in an Adult.
OphthalmologyChanges in Intraocular Pressure and Anterior Chamber Angle After Congenital Cataract Extraction.
Journal of glaucoma[Persistent hyaloid artery in an adult (a case report)].
Vestnik oftalmologiiSurgical outcomes of cataract surgery in anterior and combined persistent fetal vasculature using a novel surgical technique: a single center, prospective study.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieTemporal iridofundal coloboma with persistent pupillary membranes with persistent fetal vasculature.
Indian journal of ophthalmologyAtypical anterior persistent hyperplastic primary vitreous: report of a rare case.
BMC ophthalmologyPersistent Fetal Vasculature With Subluxated Lens, Posterior Segment Pathology, and Bifid Fibrous Membrane: An Atypical Presentation.
Journal of pediatric ophthalmology and strabismusViscodelamination of Localized Retrolental Plaques During Lens-Sparing Vitrectomy in Eyes With Pediatric Tractional Vitreoretinopathy.
Retina (Philadelphia, Pa.)Clinical and pathological characterization of persistent fetal vasculature associated with vitreous hemorrhage.
American journal of ophthalmology case reportsFemtosecond laser-assisted anterior and posterior capsulotomies in children with persistent hyperplastic primary vitreous.
Journal of cataract and refractive surgery[Timing of congenital cataract surgery : Amblyopia versus aphakic glaucoma].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftBilateral epipapillary glial membrane in Bergmeister's papilla. Tomographic findings.
Archivos de la Sociedad Espanola de OftalmologiaA rare case of binocular persistent hyperplastic primary vitreous (PHPV) in a pregnant woman during two consecutive pregnancies.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsCongenital corneal blood staining secondary to hemorrhagic persistent fetal vasculature.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusIrregular Ocular Vessels in an Infant.
Journal of pediatric ophthalmology and strabismusLong-term visual and anatomic outcomes following early surgery for persistent fetal vasculature: a single-center, 20-year review.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusOculo-skeletal dysplasia in five Labrador Retrievers.
Veterinary ophthalmologyCommentary: Understanding angiogenic factors in pathogenesis of persistent fetal vasculature.
Indian journal of ophthalmologyEvaluation of collagen derived antiangiogenic factors and matrix metalloproteinases in anterior lens epithelial cells of pediatric eyes with persistent fetal vasculature.
Indian journal of ophthalmologyModulating EGFR-MTORC1-autophagy as a potential therapy for persistent fetal vasculature (PFV) disease.
Autophagy[Evolutive posterior forms of persistent fetal vasculature bilateral at Gao regional hospital].
The Pan African medical journalRegression of fetal vasculature and visual improvement in nonsurgical persistent hyperplastic primary vitreous: a case report.
BMC ophthalmologyNeogenin-loss in neural crest cells results in persistent hyperplastic primary vitreous formation.
Journal of molecular cell biologyDon't Miss This! Red Flags in the Pediatric Eye Examination: Abnormal Red Reflex.
Journal of binocular vision and ocular motilityPostoperative follow-up of a case of atypical morning glory syndrome associated with persistent fetal vasculature.
BMC ophthalmologyOCT angiography of persistent hyaloid artery: a case report.
BMC ophthalmologyVisual and Anatomical Outcomes With Vitrectomy in Posterior or Combined Persistent Fetal Vasculature in an Asian Population.
Ophthalmic surgery, lasers & imaging retinaFetal Ultrasound Image in Persistent Fetal Vasculature.
OphthalmologyAssessment and Characterization of Hyaloid Vessels in Mice.
Journal of visualized experiments : JoVEMyelinated retinal nerve fibers and persistent hyperplastic primary vitreous.
Indian journal of ophthalmologyPersistent fetal vasculature feeding a retinoblastoma.
Indian journal of ophthalmologyA clinicopathological study of persistent fetal vasculature.
Indian journal of ophthalmologyMultiple Vascular Stalks in a Patient With Persistent Fetal Vasculature.
Ophthalmic surgery, lasers & imaging retinaSpontaneous Stalk Regression in Persistent Fetal Vasculature Syndrome.
JAMA ophthalmologyPosterior persistent fetal vasculature associated with tractional retinal detachment.
Journal francais d'ophtalmologieIn vivo detecting mouse persistent hyperplastic primary vitreous by Spectralis Optical Coherence Tomography.
Experimental eye researchAnterior elongation of the retina in persistent fetal vasculature: emphasis on retinal complications.
Eye (London, England)Visual prognosis of posterior and combined persistent fetal vasculature.
European journal of ophthalmologyPersistent hyperplastic primary vitreous in two piglets.
The Journal of veterinary medical sciencePERSISTENT HYALOID ARTERY - PERFORM A SURGERY OR NOT?
Ceska a slovenska oftalmologie : casopis Ceske oftalmologicke spolecnosti a Slovenske oftalmologicke spolecnostiFLUORESCEIN ANGIOGRAPHY FINDINGS IN UNILATERAL PERSISTENT FETAL VASCULATURE.
Retina (Philadelphia, Pa.)Persistent fetal vasculature - Clinical spectrum.
Indian journal of ophthalmologyMultiloculated Ciliary Body Cysts and Lenticular Coloboma: A Rare Phenotypic Variation Associated With Persistent Fetal Vasculature.
Journal of pediatric ophthalmology and strabismusPersistent Fetal Vasculature.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Thin posterior capsule in persistent fetal vasculature causing an appearance of spontaneous posterior capsular rupture.
Indian journal of ophthalmologyPersistent Fetal Vasculature With Elongated Ciliary Processes in Children.
American journal of ophthalmologyPersistent fetal vasculature presenting with axial elongation and platyphakia.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusInfluence of the vitreolenticular interface in pediatric cataract surgery.
Journal of cataract and refractive surgeryOptical coherence tomography findings of falciform retinal detachment complicated with persistent fetal vasculature.
BMC ophthalmologyYttrium Aluminum Garnet (YAG) Treatment for Persistent Fetal Vasculature: Nonsurgical Lens-Sparing Procedure to Cut Fibrovascular Stalk.
OphthalmologyA rare case of orbital lymphangioma with persistent fetal vasculature and extraorbital vascular malformations treated with intralesional bleomycin.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusIntraocular lens implantation in children with unilateral congenital cataract in the first 4 years of life.
European journal of ophthalmologyMorning glory syndrome with Moyamoya disease: A rare association with role of imaging.
The Indian journal of radiology & imagingUnilateral Persistence of the Hyaloid Artery Causing Vitreopapillary and Vitreomacular Traction.
JAMA ophthalmologyPrenatal diagnosis of bilateral persistent hyperplastic primary vitreous: A case report.
Journal francais d'ophtalmologieVITRECTOMY FOR PHACOANAPHYLACTIC GLAUCOMA SECONDARY TO POSTERIOR CAPSULAR RUPTURE IN AN ADULT WITH PERSISTENT HYPERPLASTIC PRIMARY VITREOUS.
Retinal cases & brief reportsManagement of severe persistent fetal vasculature: case series and review of the literature.
International ophthalmologyFunctional and anatomical outcomes following surgical management of persistent fetal vasculature: a single-center experience of 44 cases.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieSPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY IMAGING OF THE MACULA AND VITREOMACULAR INTERFACE IN PERSISTENT FETAL VASCULATURE SYNDROME WITH POSTERIOR INVOLVEMENT.
Retina (Philadelphia, Pa.)Bilateral persistent fetal vasculature and a chromosome 10 mutation including COX15.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieBilateral Persistent Hyperplastic Primary Vitreous - A Rare Case Report.
Journal of clinical and diagnostic research : JCDROsseous and Adipocytic Differentiations in the Intraocular Lens and Vitreous.
American journal of ophthalmology[Vitreous hemorrhage, persistent fetal vasculature and Incontinentia Pigmenti].
Journal francais d'ophtalmologieEndoscopic Vitrectomy for Microcornea, Posterior Megalolenticonus, Persistent Fetal Vasculature, Coloboma Syndrome.
OphthalmologyThree Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis.
Journal of pediatric ophthalmology and strabismus[Bilateral posterior persistent hyperplastic primary vitreous].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftPersistent hyperplastic primary vitreous (PHPV).
Journal francais d'ophtalmologieOutcomes of cataract surgery in children with persistent hyperplastic primary vitreous.
European journal of ophthalmologyAqueous misdirection syndrome in persistent fetal vasculature (PFV).
Arquivos brasileiros de oftalmologiaPersistent hyaloid artery.
Archivos de la Sociedad Espanola de Oftalmologia[Rare causes of childhood leukocoria].
Journal francais d'ophtalmologieThe analysis of posterior segment findings in term and premature infants using RetCam images.
International ophthalmology[Ultrasound Manifestations of Eyes of Pediatric Patients with Morning Glory Syndrome].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionClinical Features of Congenital and Developmental Cataract in East China: A Five-year Retrospective Review.
Scientific reportsBilateral persistent fetal vasculature: mimicker of retinoblastoma.
BMJ case reportsIntra-ocular medulloepithelioma as a masquerade for PHPV and Panophthalmitis: a Diagnostic Dilemma.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyA de novo PUF60 mutation in a child with a syndromic form of coloboma and persistent fetal vasculature.
Ophthalmic geneticsSurgical treatment and visual outcomes of cataract with persistent hyperplastic primary vitreous.
International journal of ophthalmologyFluorescein Angiography in Persistent Fetal Vasculature.
OphthalmologyA case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly.
GMS ophthalmology casesDifferent gene knockout/transgenic mouse models manifesting persistent fetal vasculature: Are integrins to blame for this pathological condition?
Life sciencesIntraocular sarcoma associated with lens capsule rupture and persistent hyperplastic primary vitreous in a dog.
Veterinary ophthalmologyPrenatal Ultrasonographic Diagnosis of Cataract: In Utero Manifestations of Cryptic Disease.
Ultraschall in der Medizin (Stuttgart, Germany : 1980)Early Postnatal Hyperoxia in Mice Leads to Severe Persistent Vitreoretinopathy.
Investigative ophthalmology & visual scienceA patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous mutation of KIF2A.
Molecular genetics & genomic medicinePrenatal Diagnosis of Persistent Hyperplastic Primary Vitreous: Report of 2 Cases and Review of the Literature.
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in MedicineCongenital cataract associated with persistent fetal vasculature: findings from IoLunder2.
Eye (London, England)B-Scan Echography in Cases of Confirmed Persistent Fetal Vasculature.
Journal of pediatric ophthalmology and strabismusCongenital cataract associated with persistent hyperplastic primary vitreous and persistent tunica vasculosa lentis in a sambar deer (Rusa unicolor) - clinical, ultrasonographic, and histological findings.
Clinical case reportsDevelopmental regression of hyaloid vasculature is triggered by neurons.
The Journal of experimental medicineCongenital cataract surgery without intraocular lens implantation in persistent fetal vasculature syndrome: Long-term clinical and functional results.
Journal of cataract and refractive surgeryUnilateral persistent fetal vasculature coexisting with anterior segment dysgenesia.
Archivos de la Sociedad Espanola de OftalmologiaImmediate Sequential Bilateral Pediatric Vitreoretinal Surgery: An International Multicenter Study.
Ophthalmology[Apply of RetCam Ⅱ and color Doppler imaging in persistent hyperplastic primary vitreous].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyDevelopment and pathological changes of neurovascular unit regulated by hypoxia response in the retina.
Progress in brain researchProceedings of the 2015 National Toxicology Program Satellite Symposium.
Toxicologic pathologyThe effect of repeated eye examinations and breeding advice on the prevalence and incidence of cataracts and progressive retinal atrophy in German dachshunds over a 13-year period.
Veterinary ophthalmologyA case of iridofundal coloboma with persistent fetal vasculature and lens subluxation.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusSimultaneous Novel Mutations of LRP5 and TSPAN12 in a Case of Familial Exudative Vitreoretinopathy.
Journal of pediatric ophthalmology and strabismusMice Homozygous for a Deletion in the Glaucoma Susceptibility Locus INK4 Show Increased Vulnerability of Retinal Ganglion Cells to Elevated Intraocular Pressure.
The American journal of pathologyp19(Arf) limits primary vitreous cell proliferation driven by PDGF-B.
Experimental eye researchLesions Simulating Retinoblastoma at a Tertiary Care Center.
Journal of ophthalmic & vision research[Unilateral posterior form of persistent hyperplastic primary vitreous].
Journal francais d'ophtalmologie[Persistent tunica vasculosa lentis].
Journal francais d'ophtalmologieSevere hemophilia in a girl infant with mosaic Turner syndrome and persistent hyperplastic primary vitreous.
Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosisOphthalmic Doppler in persistent hyperplastic primary vitreous atypical presentation: case report.
Arquivos brasileiros de oftalmologiaOptic Nerve Aplasia: Case Report and Literature Review.
Journal of ophthalmic & vision researchPotential blindness in children of patients with hereditary bone disease.
Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USAHyperplastic primary vitreous with hemorrhage manifested as a hyperechoic mass in the fetal orbit by prenatal ultrasound in a case of isolated unilateral microphthalmia.
Obstetrics & gynecology scienceFrizzled-4 Variations Associated with Retinopathy and Intrauterine Growth Retardation: A Potential Marker for Prematurity and Retinopathy.
OphthalmologyβA3/A1-crystallin and persistent fetal vasculature (PFV) disease of the eye.
Biochimica et biophysica actaUltrasonographic feature of persistent hyperplastic primary vitreous.
Eye scienceEphrinB2 controls vessel pruning through STAT1-JNK3 signalling.
Nature communicationsUnilateral persistent hyperplastic tunica vasculosa lentis and persistent hyperplastic primary vitreous in a rabbit.
Veterinary ophthalmologyProminent Mittendorf spot.
JAMA ophthalmologyUnilateral persistent hyperplastic primary vitreous: intensive management approach with excellent outcome beyond visual maturation.
BMJ case reportsAssociações
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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.
- Onset and Outcome of Ocular Lesions in Neonatal Severe Protein C Deficiency: Case Report and Literature Review.
- Persistent Hyperplastic Primary Vitreous With Complete Retinal Detachment in an Infant: Imaging Characteristics and Clinical Management.
- Surgical treatment of a unilateral congenital cataract with persistent hyperplastic primary vitreous using double optic capture with a 20 year follow-up and review of the literature.
- Choroidal Neovascularization in Peripapillary Persistent Fetal Vasculature Syndrome: A Possible Sequela of Nonsurgical Management.
- Refractive changes after cataract removal in infancy: comparing eyes with and without persistent fetal vasculature.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie· 2025· PMID 40301178mais citado
- A novel frameshift variant in the GJA1 gene is associated with recessive oculodentodigital dysplasia.
- Histopathologic findings of the lens capsule and persistent hyperplastic primary vitreous in Korean pediatric cataract patients.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:91495(Orphanet)
- MONDO:0019631(MONDO)
- GARD:16803(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q7170412(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.
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