Espectro de anomalias de desenvolvimento que afetam o desenvolvimento do segmento anterior do globo ocular, resultantes de anormalidades na migração e diferenciação da crista neural durante o desenvolvimento embriológico (síndrome de Axenfeld-Rieger, anomalia de Peters, ceratocone posterior e iridosquise).
Introdução
O que você precisa saber de cara
Espectro de anomalias de desenvolvimento que afetam o desenvolvimento do segmento anterior do globo ocular, resultantes de anormalidades na migração e diferenciação da crista neural durante o desenvolvimento embriológico (síndrome de Axenfeld-Rieger, anomalia de Peters, ceratocone posterior e iridosquise).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 81 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 205 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
10 genes identificados com associação a esta condição.
SecretedCell membrane
Anterior segment dysgenesis 8
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD8 patients predominantly manifest iris and lens abnormalities, in the absence of retinal abnormalities or extra-ocular features. ASGD8 transmission pattern is consistent with autosomal recessive inheritance.
Transcription factor with important functions in the development of the eye, nose, central nervous system and pancreas. Required for the differentiation of pancreatic islet alpha cells (By similarity). Competes with PAX4 in binding to a common element in the glucagon, insulin and somatostatin promoters. Regulates specification of the ventral neuron subtypes by establishing the correct progenitor domains (By similarity). Acts as a transcriptional repressor of NFATC1-mediated gene expression (By s
Nucleus
Aniridia 1
A congenital, bilateral, panocular disorder characterized by complete absence of the iris or extreme iris hypoplasia. Aniridia is not just an isolated defect in iris development but it is associated with macular and optic nerve hypoplasia, cataract, corneal changes, nystagmus. Visual acuity is generally low but is unrelated to the degree of iris hypoplasia. Glaucoma is a secondary problem causing additional visual loss over time.
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.
May play a role in myoblast differentiation. When unphosphorylated, associates with an ELAVL1-containing complex, which stabilizes cyclin mRNA and ensuring cell proliferation. Phosphorylation by AKT2 impairs this association, leading to CCND1 mRNA destabilization and progression towards differentiation Involved in the establishment of left-right asymmetry in the developing embryo
NucleusCytoplasm
Axenfeld-Rieger syndrome 1
An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Additional features include aniridia, maxillary hypoplasia, hypodontia, anal stenosis, redundant periumbilical skin.
Catalyzes the two-electron oxidation of bromide by hydrogen peroxide and generates hypobromite as a reactive intermediate which mediates the formation of sulfilimine cross-links between methionine and hydroxylysine residues within an uncross-linked collagen IV/COL4A1 NC1 hexamer (PubMed:18929642, PubMed:19590037, PubMed:22842973, PubMed:25708780, PubMed:25713063, PubMed:27697841, PubMed:28154175, PubMed:34679700). In turns, directly contributes to the collagen IV network-dependent fibronectin/FN
Secreted, extracellular space, extracellular matrixEndoplasmic reticulumCell surfaceSecreted, extracellular space, extracellular matrix, basement membrane
Anterior segment dysgenesis 7
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD7 is an autosomal recessive disease.
Transcription factor that controls lens epithelial cell growth through regulation of proliferation, apoptosis and cell cycle (PubMed:22527307, PubMed:25504734). During lens development, controls the ratio of the lens fiber cells to the cells of the anterior lens epithelium by regulating the rate of proliferation and differentiation (By similarity). Controls lens vesicle closure and subsequent separation of the lens vesicle from ectoderm (By similarity). Controls the expression of DNAJB1 in a pat
Nucleus
Anterior segment dysgenesis 2
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. Some ASGD2 patients show congenital primary aphakia, a defect caused by eye development arrest around the 4th-5th week of gestation. This prevents the formation of any lens structure and leads to severe secondary ocular anomalies, including a complete aplasia of the anterior segment of the eye. In contrast, in secondary aphakic eyes, lens induction has occurred, and the lens vesicle has developed to some degree but finally has progressively resorbed perinatally, leading, therefore, to less severe ocular defects. ASGD2 inheritance is autosomal recessive.
Inositol 1,4,5-trisphosphate-gated calcium channel that, upon inositol 1,4,5-trisphosphate binding, mediates calcium release from the endoplasmic reticulum (ER) (PubMed:10620513, PubMed:27108797). Undergoes conformational changes upon ligand binding, suggesting structural flexibility that allows the channel to switch from a closed state, capable of interacting with its ligands such as 1,4,5-trisphosphate and calcium, to an open state, capable of transferring calcium ions across the ER membrane (
Endoplasmic reticulum membraneCytoplasmic vesicle, secretory vesicle membraneCytoplasm, perinuclear region
Spinocerebellar ataxia 15
Spinocerebellar ataxia is a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA15 is an autosomal dominant cerebellar ataxia (ADCA). It is very slow progressing form with a wide range of onset, ranging from childhood to adult. Most patients remain ambulatory.
A cytochrome P450 monooxygenase involved in the metabolism of various endogenous substrates, including fatty acids, steroid hormones and vitamins (PubMed:10681376, PubMed:11555828, PubMed:12865317, PubMed:15258110, PubMed:20972997). Mechanistically, uses molecular oxygen inserting one oxygen atom into a substrate, and reducing the second into a water molecule, with two electrons provided by NADPH via cytochrome P450 reductase (NADPH--hemoprotein reductase) (PubMed:10681376, PubMed:11555828, PubM
Endoplasmic reticulum membraneMicrosome membraneMitochondrion
Anterior segment dysgenesis 6
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis. ASGD6 patients predominantly manifest Peters anomaly. Peters anomaly consists of corneal leukoma, defects in the posterior structures of the cornea such as absence of the posterior corneal stroma and Descemet membrane, and a variable degree of iridocorneal and/or keratolenticular adhesions. Over 50% of patients develop glaucoma in childhood.
Transcriptional regulator which is important for the differentiation and maintenance of meso-diencephalic dopaminergic (mdDA) neurons during development. In addition to its importance during development, it also has roles in the long-term survival and maintenance of the mdDA neurons. Activates NR4A2/NURR1-mediated transcription of genes such as SLC6A3, SLC18A2, TH and DRD2 which are essential for development of mdDA neurons. Acts by decreasing the interaction of NR4A2/NURR1 with the corepressor
Nucleus
Anterior segment dysgenesis 1
A form of anterior segment dysgenesis, a group of defects affecting anterior structures of the eye including cornea, iris, lens, trabecular meshwork, and Schlemm canal. Anterior segment dysgeneses result from abnormal migration or differentiation of the neural crest derived mesenchymal cells that give rise to components of the anterior chamber during eye development. Different anterior segment anomalies may exist alone or in combination, including iris hypoplasia, enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface. Clinical conditions falling within the phenotypic spectrum of anterior segment dysgeneses include aniridia, Axenfeld anomaly, Reiger anomaly/syndrome, Peters anomaly, and iridogoniodysgenesis.
DNA-binding transcriptional factor that plays a role in a broad range of cellular and developmental processes such as eye, bones, cardiovascular, kidney and skin development (PubMed:11782474, PubMed:14506133, PubMed:14578375, PubMed:15277473, PubMed:15299087, PubMed:15684392, PubMed:16449236, PubMed:16492674, PubMed:17210863, PubMed:19279310, PubMed:19793056, PubMed:25786029, PubMed:27804176, PubMed:27907090). Acts either as a transcriptional activator or repressor (PubMed:11782474). Binds to th
Nucleus
Axenfeld-Rieger syndrome 3
An autosomal dominant disorder of morphogenesis that results in abnormal development of the anterior segment of the eye, and results in blindness from glaucoma in approximately 50% of affected individuals. Features include posterior corneal embryotoxon, prominent Schwalbe line and iris adhesion to the Schwalbe line, hypertelorism, hypodontia, sensorineural deafness, redundant periumbilical skin, and cardiovascular defects such as patent ductus arteriosus and atrial septal defect. When associated with tooth anomalies, the disorder is known as Rieger syndrome.
Medicamentos aprovados (FDA)
1 medicamento encontrado nos registros da FDA americana.
Variantes genéticas (ClinVar)
621 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
29 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 — Disgenesia mesenquimatosa do segmento anterior do olho, familiar
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Publicações mais relevantes
Dynamics of Anterior Chamber Angle Parameters in Primary and Secondary Pseudophakic Eyes Following Congenital Cataract Surgery.
To evaluate anterior chamber angle (ACA) parameter changes and their correlation with intraocular pressure (IOP) in primary versus secondary intraocular lens (IOL) implantation following congenital cataract (CC) surgery, using swept-source anterior segment optical coherence tomography (SS-ASOCT). Preoperative and postoperative (1 and 6 months) SS-ASOCT images from 89 eyes of 64 patients undergoing CC surgery were analyzed. ACA parameters (AOD500, ARA500, TISA500, TIA500) were measured. Generalized estimating equations assessed ACA parameter changes, and multivariable analysis determined relationships between ACA parameters and IOP. Compared to normal eyes, aphakic eyes showed larger AOD500 and ARA500 but smaller TISA500 (P < 0.05). After IOL implantation, both primary and secondary pseudophakic eyes (P-PsE and S-PsE) exhibited significant postoperative reductions in ARA500 and TISA500 (P < 0.05), mainly in the nasal angle. Multivariable analysis revealed corneal thickness positively correlated with IOP in both groups, while nasal AOD500 (β = -0.685, P < 0.05) and nasal TIA500 (β = -0.109; P < 0.001) showed negative associations in S-PsE. Angle abnormalities were identified during the annotation of images, associated with poorer visual outcomes. Significant postoperative reductions in ARA500 and TISA500 occurred in both primary and secondary IOL implantation for CC, predominantly in the nasal angle. Although overall angle parameters were comparable, S-PsEs uniquely demonstrated IOP correlations with pupil diameter and nasal angle, suggesting distinct IOP regulation mechanisms. SS-ASOCT-derived nasal anterior chamber angle metrics may provide an accessible biomarker for monitoring angle remodeling and intraocular pressure regulation following congenital cataract surgery.
Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.
This case report presents the first case of congenital corneal staphyloma in an Asian pediatric patient with Kabuki syndrome confirmed by a KMT2D gene mutation. A female infant, born at 38 weeks and 3 days of gestation via cesarean section, was referred immediately after birth for anterior segment dysgenesis of the right eye. The right eye showed microphthalmia accompanied by corneal opacity and limbal deficiency with neovascularization. Intraocular tumors were ruled out by ocular ultrasound and MRI. The left eye appeared normal. Subsequently, the cornea continued to protrude, leading to a clinical diagnosis of corneal staphyloma. At ∼7 months of age, she underwent enucleation with the insertion of an orbital hydroxyapatite implant. The postoperative pathology examination confirmed corneal staphyloma, identifying a fibrous stroma of squamous epithelium with pigmentation. Genetic testing identified a KMT2D gene mutation, confirming a diagnosis of Kabuki syndrome. Her left eye is developing normally with no structural abnormalities.
Congenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.
Congenital lumbar hernia (CLH) is a rare condition in infancy, often associated with lumbo-costo-vertebral syndrome (LCVS), which combines vertebral, rib, and abdominal wall anomalies. Genitourinary defects are uncommon and rarely documented. A 1-year-old girl presented with a left-sided CLH, small umbilical hernia, and prominent left anterior ribs protrusion manifesting as a chest wall bulge. Radiologic workup showed T10-T11 hemivertebrae, fused left laminae and ribs (10th-11th), scoliosis convex to the hernia side, and ipsilateral renal agenesis, confirming LCVS with a genitourinary anomaly. Elective open surgical repair included meshplasty of the left lumbar defect and excision of the protruding fused left anterior rib segment through the same incision, with concurrent umbilical hernia repair through a circumferential periumbilical incision. Recovery was uneventful. This case illustrates the syndromic nature of CLH within LCVS and underscores the need to screen for associated anomalies, particularly genitourinary defects such as renal agenesis. Imaging beyond ultrasound is often required to delineate skeletal and myofascial abnormalities. An open approach was favored to allow simultaneous excision of the protruding fused left rib segment and durable mesh reinforcement of a ~5 cm defect; this strategy achieved excellent outcomes. The coexistence of umbilical hernia with LCVS and CLH may be incidental but could broaden the recognized phenotypic spectrum and, to our knowledge, has not been previously reported. Awareness of LCVS in infants with CLH facilitates evaluation for associated anomalies and guides timely surgical management. Early recognition and repair can yield favorable results.
Clinicopathologic Findings of Congenital Megalocornea in Three Blue-Throated Conures (Pyrrhura cruentata).
To describe the first known occurrence of megalocornea in a cohort of juvenile blue-throated conures (Pyrrhura cruentata). Three genetically related juvenile blue-throated conures. The information collected included physical and ophthalmic examination findings, ocular ultrasound biomicroscopy, Micro-CT analysis, postoperative outcomes following chemical cycloablation and/or enucleation, and histopathology. Ophthalmic examinations revealed multiple congenital ocular anomalies and bilateral blindness with the predominant feature of corneal enlargement. Several eyes developed corneal edema and exposure keratitis from lagophthalmos. Ultrasound biomicroscopy (UBM) showed a globoid cornea and enlarged anterior chamber with or without anterior displacement of the lens. Micro-CT analysis revealed normal skull conformation with bilateral enlargement of the anterior segments. An initial diagnosis of presumptive congenital glaucoma with buphthalmos was made. All conures had a chemical cycloablation procedure performed in the left eye to decrease ocular size. One conure had an enucleation of its right eye (OD) due to severe corneal ulceration. Two conures were humanely euthanized due to systemic health concerns shortly after initial presentation, and one died suddenly of a suspected cardiac event 8 years later. Ocular histopathology was performed on all 6 eyes of 3 conures, confirming a diagnosis of megalocornea with secondary ulcerative keratitis, stromal attenuation, and marked fibrosis with a discontinuous Descemet's membrane. This case series represents the first documented report of congenital megalocornea in blue-throated conures, which should be considered as a differential in birds with presumed buphthalmos from glaucoma.
Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
A 15-week-old Australian Labradoodle puppy was presented to The University of Queensland Small Animal Hospital for bilateral eyelid agenesis/coloboma and associated ocular complications. Enucleation of the left globe and repair of the right eyelid via a lip-to-lid transmucosal flap was performed. Given the subsequent development of prolapse of the gland of the nictitating membrane and a lack of vision of the right eye, enucleation of the right globe was then performed 2 months following the initial procedure. Both globes and a skin wedge from the right eye were submitted to The University of Queensland Veterinary Laboratory Service for histopathology assessment. Microscopic globe examination revealed lesions consistent with bilateral Peters' anomaly (anterior chamber cleavage syndrome, ACCS), characterized by axial defects in Descemet's membrane and the posterior corneal stroma, anterior synechiae at the site of the defects, and closure of the drainage angle. Other important histological findings were persistent pupillary membranes, retinal separation, and aphakia. Histopathology of the skin wedge from the right eye demonstrated complete absence of conjunctival goblet cells, tarsal plate, and meibomian glands, consistent with the finding of eyelid agenesis/coloboma. This report describes an uncommon and underreported presentation of bilateral canine lower eyelid agenesis with concurrent multiple congenital ocular anomalies, including bilateral Peters' anomaly.
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Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial SurgeryXEN 63 in a case of refractory glaucoma secondary to microphthalmia and aphakia.
Archivos de la Sociedad Espanola de OftalmologiaRefractive Alterations in Marfan Syndrome: A Narrative Review.
Medicina (Kaunas, Lithuania)Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities.
AJNR. American journal of neuroradiologyComplex genomic rearrangement with deletion of PITX2 in a Chinese family with Axenfeld-Rieger syndrome: A case report and literature review.
Molecular visionReattachment of a posteriorly dislocated graft in Descemet's stripping automated endothelial keratoplasty.
BMJ case reportsSagittal Spinal Profile in Patients with Lumbosacral Hemivertebra: Preoperative Status and Postoperative Evolution at a Mean Follow-up of 7.5 Years.
The Journal of bone and joint surgery. American volumeExpansion of genotypic and phenotypic findings in ADAMTS18-related ocular pathology.
American journal of ophthalmology case reportsExome sequencing identifies existing and novel variants in a South African cohort presenting with anterior segment dysgenesis.
Gene19-Year Follow-up on Patients with Axenfeld-Rieger Anomaly or Syndrome and Fuchs' Endothelial Dystrophy Including the 6th Generation in a Pedigree.
Klinische Monatsblatter fur AugenheilkundeEncountering the clinical complexity of type II Peters anomaly management approaches: a case report.
The Pan African medical journalSingle-cell transcriptomic profiling of rat iridocorneal angle at perinatal stages: Revisiting the development of periocular mesenchyme.
Experimental eye researchCraniosynostosis: Quantifying Differences in Skull Architecture.
The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial AssociationThe role of myocardial bridge of the left anterior descending artery in a sudden death of a ketamine and cannabis user. Addressing the uncertainties on the cause of death in a forensic pathologist's casework.
Legal medicine (Tokyo, Japan)Cranial Base Changes After Trans-sutural Distraction Osteogenesis in Growing Patients With Cleft Lip/Palate and Midface Hypoplasia.
The Journal of craniofacial surgeryZonulopathies as Genetic Disorders of the Extracellular Matrix.
GenesLong-term outcomes of scleral fixated black diaphragm intraocular lens in eyes with combined aphakia and aniridia.
European journal of ophthalmologyGenome sequencing reveals novel variants in a diverse population with congenital anterior segment anomalies.
Scientific reportsPrevalence and clinical associations of relative anterior microphthalmos assessed with an optical biometer.
Scientific reportsClinical spectrum of bilateral microspherophakia and risk factors associated with poor visual outcomes following lensectomy surgery - A multicentric study.
Indian journal of ophthalmologyClinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.
Quantitative imaging in medicine and surgeryCharacterization of the Ocular Phenotype in a Col4a3 Knockout Mouse Model of Alport Syndrome.
Investigative ophthalmology & visual scienceRefractive result after clear lens extraction in posterior microphthalmos with high hyperopia.
BMJ case reportsNovel CACNA1F pathogenic variant in pediatric incomplete X-linked CSNB: integrating portable ERG and genetic analysis.
Documenta ophthalmologica. Advances in ophthalmologyPotential Involvements of Anterior Segment Dysgenesis-Associated Genes in Primary Congenital Glaucoma.
Seminars in ophthalmologyAnalysis of Dental Arch Symmetry of Children With Unilateral Cleft Lip and Palate: Seven-Year Follow-Up.
International journal of paediatric dentistryClinical Classification and Management Outcomes of Anterior Segment-Dominated Persistent Fetal Vasculature: The CCPMOH Report.
American journal of ophthalmologyOcular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.
BMC ophthalmologyA Rare Arterial Congenital Variant: The Internal Carotid Artery Agenesis.
The Journal of craniofacial surgeryInterventional treatment of non-spontaneously healed spontaneous coronary artery dissection: a case report.
BMC cardiovascular disordersWES and Transcriptome Analysis Identifies FN1 as a Candidate Gene for Anterior Segment Dysgenesis.
The journal of gene medicineThe Septum and Nasomaxillary Vault Associated with Unrepaired Unilateral Cleft Lip and Palate: A Data-Driven 3-Dimensional Model.
Plastic and reconstructive surgeryDeletion of exon 4 of the PITX2 in a child with Axenfeld-Rieger syndrome.
Ophthalmic geneticsApproaches for the Minimally Invasive Resection of Chiasmatic Cavernous Hemangioma: Analysis of 56 Cases in the Literature.
World neurosurgeryBlindness After Frontal Craniotomy.
Acta neurochirurgica. SupplementEfficacy of the maxillary anterior segmental distraction osteogenesis in patients with cleft lip and palate.
BMC oral healthOcular ischemic syndrome secondary to cerebral aneurysms.
American journal of ophthalmology case reports[Anterior myocardial infarction associated with anomalous origin of the left main coronary artery].
Revista medica del Instituto Mexicano del Seguro SocialA Novel Mutation of FOXC1 (P136L) in an Axenfeld-Rieger Syndrome Patient With a Systematized Delusion of Jealousy: A Case Report and Literature Review.
Molecular genetics & genomic medicineA De Novo Noncoding RARB Variant Associated with Complex Microphthalmia Alters a Putative Regulatory Element.
Human mutationTrabecular Meshwork Abnormalities in a Model of Congenital Glaucoma Due to LTBP2 Mutation.
Investigative ophthalmology & visual scienceAnterior maxillary distraction for cleft palate associated severe hypoplastic maxillary Class III deformity during adolescence - A case report.
International orthodonticsThree-dimensional Analysis of Skeletal Stability in Cleft Lip and Palate Patients Undergoing Bimaxillary Surgery With Le Fort I Osteotomy and Intraoral Vertical Ramus Osteotomy.
The Journal of craniofacial surgeryAcross-surface distances after one- and two-stage palatoplasty in children with oral cleft.
Brazilian journal of medical and biological research = Revista brasileira de pesquisas medicas e biologicasPituitary Gland Duplication Syndrome: An International Imaging Analysis.
AJNR. American journal of neuroradiologyAcute abdomen due to Meckel's diverticulitis with synchronous inflammatory myofibroblastic tumor in the terminal ileum: A case report.
Ulusal travma ve acil cerrahi dergisi = Turkish journal of trauma & emergency surgery : TJTES[Glaucoma in PAX6-related congenital aniridia: A review of the literature].
Journal francais d'ophtalmologieGenotypes and phenotypes of capillary malformation-arteriovenous malformation: characterization and correlation analysis.
International journal of dermatologyEnhanced lymphangiogenesis in the left lateral segment of a biopsied liver during portoenterostomy for biliary atresia.
Pediatric surgery internationalEvaluation of soft tissue profile changes around the nose and upper lip following maxillary anterior alveolar osteotomy with Wassmund and Wunderer technique in Japanese.
Journal of stomatology, oral and maxillofacial surgeryPotential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
International journal of molecular sciencesA New Case Report of Traboulsi Syndrome: A Literature Review and Insights Into Genotype-Phenotype Correlations.
GenesExpanding the mutational and phenotypical spectrum of FHONDA syndrome.
European journal of ophthalmologyDSA Quantitative Analysis and Predictive Modeling of Obliteration in Cerebral AVM following Stereotactic Radiosurgery.
AJNR. American journal of neuroradiologyEfficacy of modified anterior maxillary segmental distraction osteogenesis based on 3D visualisation for the treatment of maxillary hypoplasia among adolescents with cleft lip and palate.
BMC oral healthPleiotropy in FOXC1-attributable phenotypes involves altered ciliation and cilia-dependent signaling.
Scientific reportsIn vivo angle dysgenesis in PHACE syndrome with developmental glaucoma.
BMJ case reportsSurgical Outcomes of Children with Unilateral Congenital Cataract and Persistent Fetal Vasculature.
Clinical ophthalmology (Auckland, N.Z.)Spontaneous Ectopia Lentis in Retinitis Pigmentosa: A Case Report and Review of the Literature.
Medicina (Kaunas, Lithuania)Exploring the link between myocardial bridging and left ventricular hypertrophy: Congenital factors or remodelling?
Kardiologia polskaReduction in neurons immunoreactive for calcium-binding proteins in the anteroventral thalamic nuclei of individuals with Down syndrome.
NeuroscienceMidbrain Cavernous Malformation: Microsurgical Nuances and an Anatomoclinical Review 2-Dimensional Video.
World neurosurgeryMyocardial ischemia caused by the synergistic effect of myocardial bridge and moderate stenosis: case report.
BMC cardiovascular disordersAcute bilateral nodular scleritis following strabismus surgery in a patient with Down syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusFabry Disease Rat Model Develops Age- and Sex-Dependent Anterior Segment Ocular Abnormalities.
Investigative ophthalmology & visual scienceCongenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Progress in retinal and eye research[Myocardial infarction with elevation of the inferior and anterior ST segment: double artery is the culprit?].
Revista medica de ChileThe Red Reflex Test and Leukocoria in Childhood.
Acta medica portuguesaElectroconvulsive Therapy With Brain Cyst: A Simulation Study.
The journal of ECTMultiorgan manifestations of COL4A1 and COL4A2 variants and proposal for a clinical management protocol.
American journal of medical genetics. Part C, Seminars in medical geneticsMicrophthalmia with multiple ocular abnormalities in a foal.
Veterinary ophthalmologyBilateral ocular manifestations of Sturge-Weber syndrome: a rare case report.
Romanian journal of ophthalmologySupernumerary Punctum With Its Own Distinct Canaliculus.
Ophthalmic plastic and reconstructive surgeryUniversal eye screening: perinatal risk factors and ocular abnormalities in 1795 newborns not meeting retinopathy of prematurity criteria.
Eye (London, England)Progression to bilaterality in unilateral primary congenital glaucoma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAnalysis of Phenotypes Associated with Deficiency of PAX6 Haplotypes in Chinese Aniridia Families.
Current medical science[Correlation of posterior segment lesions with anterior segment biometric parameters and FBN1 genotype in patients with Marfan syndrome].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyPersistent foetal vasculature masquerading as Peters anomaly.
Eye (London, England)Posterior-Only T11 Vertebral Column Resection for Pediatric Congenital Kyphosis Surgical Correction.
Medicina (Kaunas, Lithuania)A Case of Non-Syndromic Congenital Cataracts Caused by a Novel MAF Variant in the C-Terminal DNA-Binding Domain-Case Report and Literature Review.
GenesNanophthalmos-Associated MYRF gene mutation facilitates intraocular inflammation in mice.
International immunopharmacologyEndovascular treatment for brain arteriovenous malformations via the anterior choroidal artery for casting Onyx-18.
The neuroradiology journalIn Silico Characterization of Pathogenic Homeodomain Missense Mutations in the PITX2 Gene.
Biochemical geneticsHigh Prevalence of Myocardial Bridging Detected in an Indonesian Population Using Multi-Detector Computed Tomography.
Medicina (Kaunas, Lithuania)Congenital Corneal Staphyloma: A Comprehensive Histopathologic Assessment Including Associated Anterior Segment Abnormalities.
Journal of pediatric ophthalmology and strabismusStability between single and segmental maxillary osteotomies in bimaxillary surgery for cleft-associated class III deformity: a CBCT study.
Clinical oral investigationsAnterior scleral thickness in Marfan syndrome: A quantitative analysis.
Acta ophthalmologicaST-segment elevation myocardial infarction (STEMI) caused by spontaneous coronary artery dissection (SCAD) in a patient with von Willebrand disease.
BMJ case reportsBilateral optic disc collaterals secondary to high-flow dural arteriovenous fistula: a diagnostic dilemma.
BMJ case reportsEvaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.
Cells & developmentSpontaneous Coronary Artery Dissection in a Male Patient With Fibromuscular Dysplasia.
Texas Heart Institute journalClassification of congenital cataracts based on multidimensional phenotypes and its association with visual outcomes.
International journal of ophthalmologyModernizing the evaluation of infantile nystagmus: the role of handheld optical coherence tomography.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusMacular and peripapillary vascular parameters in the fellow eyes of unilateral primary congenital glaucoma: a comparative study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusUnusual Posterior Capsular Pigmentation in Axenfeld-Rieger Anomaly.
Ophthalmology. GlaucomaCongenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome.
BMJ case reportsTransseptal coronary artery-a pictorial review.
Pediatric radiologyOne-Year Longitudinal Assessment of Patients With CMT1A Using Quantitative MRI.
NeurologyIntergenic sequences harboring potential enhancer elements contribute to Axenfeld-Rieger syndrome by regulating PITX2.
JCI insightIn Vivo Assessment of Retinal Phenotypes in Axenfeld-Rieger Syndrome.
Investigative ophthalmology & visual scienceA CASE OF ALSTRÖM SYNDROME WITH A NOVEL VARIANT IN ALMS1 GENE PRESENTING WITH CONE ROD DYSTROPHY AS FIRST FINDING.
Retinal cases & brief reportsPETSurfer-Based Brain Segmentation in Patients with Temporal Lobe Epilepsy and Associated Hippocampal Sclerosis.
SeizurePrimary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity.
Investigative ophthalmology & visual science[Changes in tongue position and three-dimensional changes in upper airway before and after treatment with Twin-block combined with maxillary expansion appliance in children with mandibular retrusion].
Shanghai kou qiang yi xue = Shanghai journal of stomatologyStructural Variant Disrupting the Expression of the Remote FOXC1 Gene in a Patient with Syndromic Complex Microphthalmia.
International journal of molecular sciencesA bird's eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases.
Journal of human genetics[Structural and functional features of the eye in Marfan syndrome. Report 2. Changes in the anatomical complex of the lens].
Vestnik oftalmologii[Structural and functional features of the eye in Marfan syndrome. Report 1. Changes in the fibrous tunic of the eye].
Vestnik oftalmologiiCraniofacial bone anomalies related to cholesterol synthesis defects.
Scientific reportsMyocardial bridging in obstructive hypertrophic cardiomyopathy: a risk factor for myocardial fibrosis.
BMC medicineComparison and Evaluation of the Accuracy for Thoracic and Lumbar Pedicle Screw Fixation in Early-Onset Congenital Scoliosis Children.
Discovery medicineNeurotrophic Keratopathy in Marfan Syndrome Patient After Micropulse Transscleral Cyclophotocoagulation: A Call for Risk Stratification.
The American journal of case reportsCiliary muscle and anterior segment characteristics in pre-presbyopic adults with Down syndrome.
Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
Acta paediatrica (Oslo, Norway : 1992)Prenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Ocular immunology and inflammation[Liver failure caused by recurrent biliary bleeding associated with Osler's disease: a case report].
Nihon Shokakibyo Gakkai zasshi = The Japanese journal of gastro-enterologyComparative posterior corneal profile of keratoconus hydrops versus Haab's striae in congenital glaucoma.
Indian journal of ophthalmologyRobotic-assisted single-site abdominal cerclage in the bicornuate uterus patient with cervical insufficiency.
Fertility and sterilityClassifications of anterior segment structure of congenital corneal opacity in infants and toddlers by ultrasound biomicroscopy and slit-lamp microscopic photographs: an observational study.
BMC ophthalmology[Communication interventriculaire compliquant un infarctus de myocarde antérieur : un cas de fermeture percutanée].
Annales de cardiologie et d'angeiologieGeneral Treatment and Ophthalmic Management of Peters' Anomaly.
Journal of clinical medicineEvaluation of transpalatal distraction in cleft palate patients.
Oral and maxillofacial surgeryGenetics of the anterior segment dysgenesis.
Taiwan journal of ophthalmologyNew horizons in aniridia management: Clinical insights and therapeutic advances.
Taiwan journal of ophthalmologyCongenital anomalies of lens shape.
Taiwan journal of ophthalmologyOcular Manifestations in Head and Neck Cancer: A Cross-Sectional Study from a Tertiary Care Centre from South India.
Romanian journal of ophthalmologyComplex balanced intrachromosomal rearrangement involving PITX2 identified as a cause of Axenfeld-Rieger Syndrome.
American journal of medical genetics. Part AAssociações
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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.
- Dynamics of Anterior Chamber Angle Parameters in Primary and Secondary Pseudophakic Eyes Following Congenital Cataract Surgery.
- Congenital Corneal Staphyloma in an Asian Infant With Kabuki Syndrome Confirmed by a KMT2D Mutation.
- Congenital lumbar and umbilical hernias in lumbo-costo-vertebral syndrome with ipsilateral renal agenesis: A rare case report with literature review.
- Clinicopathologic Findings of Congenital Megalocornea in Three Blue-Throated Conures (Pyrrhura cruentata).
- Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
- Advancing therapies for anterior segment developmental anomalies.
- Congenital corneal staphyloma in 8q21.11 microdeletion syndrome.
- Update on pediatric corneal diseases and keratoplasty.
- Genetic background modifies vulnerability to glaucoma-related phenotypes in Lmx1b mutant mice.
- The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:88632(Orphanet)
- MONDO:0019503(MONDO)
- GARD:10025(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3108583(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
