A Anomalia de Peters (AP) é uma condição ocular congênita (presente desde o nascimento) que causa uma turvação na córnea, a parte transparente da frente do olho. Ela é caracterizada por uma mancha esbranquiçada no centro da córnea, que impede a luz de entrar pela pupila (a parte preta do olho), resultando em perda de visão. Além disso, há uma ausência de algumas camadas internas e de uma membrana fina que ficam na parte de trás da córnea.
Introdução
O que você precisa saber de cara
A Anomalia de Peters (AP) é uma condição ocular congênita (presente desde o nascimento) que causa uma turvação na córnea, a parte transparente da frente do olho. Ela é caracterizada por uma mancha esbranquiçada no centro da córnea, que impede a luz de entrar pela pupila (a parte preta do olho), resultando em perda de visão. Além disso, há uma ausência de algumas camadas internas e de uma membrana fina que ficam na parte de trás da córnea.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 10 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
5 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive.
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.
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.
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 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.
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.
Variantes genéticas (ClinVar)
719 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 2 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
12 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 — Anomalia de Peters
Centros de Referência SUS
24 centros habilitados pelo SUS para Anomalia de Peters
Centros para Anomalia de Peters
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Ensaios em destaque
🟢 Recrutando agora
2 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
Iris-Derived Central Corneal Neovascularization in Peters Anomaly.
This case report describes a case of Peters anomaly with central corneal neovascularization diagnosed in a female toddler who presented with acute intracorneal hemorrhage in the right eye.
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.
Results of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.
We aimed to evaluate safety, indications, and patient satisfaction for keratopigmentation (KTP) with microneedling in patients with corneal leukoma. This retrospective study included patients who underwent KTP using a microneedling device (Dermapen) between January 2020 and May 2025. A total of 11 eyes from 11 patients with corneal leukoma were included. KTP was performed under sterile conditions and topical anesthesia, using the Dr. Pen Ultima N2-W Dermapen device. Sterile skin tattoo pigments, selected to match the color of the fellow eye, and approved by the European Union REACH (Registration, Evaluation, Authorization, and Restriction of Chemicals) were used, without dilution. The underlying causes of corneal leukoma included trauma in four cases, keratoplasty rejection in three cases, bullous keratopathy in one case, Peters anomaly in one case, congenital glaucoma in one case, and phthisis secondary to glaucoma in one case. The mean procedure time in all patients was calculated as 35.6 ± 12.3 minutes. Corneal epithelium healed and conjunctival hyperemia resolved within 1 week in all patients. The mean follow-up period was 17.06 ± 7.3 months (8-39 months). All patients demonstrated aesthetic improvement in ocular appearance postoperatively. No significant pigment fading or migration (>10% surface area) occurred, and cosmetic outcomes remained stable without need for repeat pigmentation. No additional surgical intervention or repigmentation was required. Dermapen is a device that offers a practical and homogeneous method for corneal KTP. The ability to adjust the needle depth allows for a personalized treatment approach.
Peters Anomaly in a Miniature Schnauzer Documented by Spectral-Domain Optical Coherence Tomography: A Case Report.
A 10-month-old intact male Miniature Schnauzer was presented for evaluation of a unilateral corneal opacity in the right eye. Ophthalmic examination revealed a broad paraxial corneal opacity involving the posterior stroma to the Descemet's membrane, with multiple strands of tissue extending from the iris collarette to the posterior cornea. Spectral-domain optical coherence tomography (SD-OCT) revealed focal absence of the Descemet's membrane and a defect in the corneal endothelium in the affected area. Based on the clinical and imaging findings, the case was diagnosed as Peters anomaly. To the authors' knowledge, this is the first report of Peters anomaly in a dog documented by SD-OCT.
Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.
Peters-Plus syndrome is a rare autosomal recessive disorder caused by biallelic pathogenic variants in the B3GLCT gene and characterized by multisystem involvement. Fewer than 100 cases have been reported to date, and only a limited number have been diagnosed prenatally. Prenatal identification is challenging due to the variable and non-specific nature of fetal findings and the frequent absence of detectable ocular anomalies during routine ultrasound. We report a prenatal diagnosis of Peters-Plus syndrome in a monochorionic diamniotic twin pregnancy, based on the progressive identification of early-onset intrauterine growth restriction, rhizomelic limb shortening, craniofacial dysmorphism, and mild central nervous system abnormalities. Standard cytogenetic and chromosomal microarray analyses were normal, prompting extended genetic testing. Prenatal exome sequencing identified a homozygous pathogenic splice-site variant (c.660+1G>A) in B3GLCT in both fetuses, confirming the diagnosis. This case highlights the importance of recognizing suggestive multisystem prenatal findings and the crucial role of advanced genetic testing in achieving an accurate prenatal diagnosis. Early molecular confirmation enables appropriate parental counseling regarding prognosis, recurrence risk, and future reproductive options.
Publicações recentes
Clinical features of syndromic microphthalmia in two novel RARB variants.
🥈 CoorteIntegrating clinical and genetic insights in anterior segment dysgenesis with glaucoma: A contemporary review.
Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
Results of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.
📚 EuropePMC219 artigos no totalmostrando 178
Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
Veterinary ophthalmologyResults of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.
CorneaPeters Anomaly in a Miniature Schnauzer Documented by Spectral-Domain Optical Coherence Tomography: A Case Report.
Clinical case reportsPrenatal Diagnosis of Peters-Plus Syndrome: A Case Report.
Life (Basel, Switzerland)Novel variant in FGFR2 in a family with anterior segment anomalies.
Ophthalmic geneticsIris-Derived Central Corneal Neovascularization in Peters Anomaly.
JAMA ophthalmologyAnatomical and Functional Outcomes of Rotational Autokeratoplasty in Children: A Multicenter Retrospective Study.
CorneaIntraoperative and postoperative suprachoroidal hemorrhage in pediatric patients undergoing penetrating keratoplasty or Ahmed valve implantation.
Korean journal of ophthalmology : KJOTwo-Piece Mushroom Penetrating Keratoplasty With "Pull-Through" Technique to Manage High Vitreous Pressure in Infant Eyes.
CorneaLow Vision Rehabilitation in a Family Affected by Peters' Anomaly Syndrome.
Clinical optometryManaging Persistent Pupillary Membranes With Surgery or Medication: A Report of Three Cases.
CureusNovel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.
International journal of molecular sciencesQuantitative analysis of intraocular pressure and clinical-morphometric characteristics in Peters' anomaly: a single-center study.
Frontiers in medicineAssociation of Maternal Exposure to Fine Particulate Matter During Pregnancy with Anterior Segment Dysgenesis Risk: A Matched Case-Control Study.
Journal of clinical medicineDiagnostic Utility of Next-Generation Sequencing-based CNV Analysis in Eleven Patients with Peters-Plus Syndrome: A Single-Center Experience.
Journal of clinical research in pediatric endocrinologyInsights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Life (Basel, Switzerland)Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.
Ophthalmology and therapymTOR regulates Wnt signaling to promote tension-mediated lens vesicle closure.
bioRxiv : the preprint server for biologyXEN 63 in a case of refractory glaucoma secondary to microphthalmia and aphakia.
Archivos de la Sociedad Espanola de OftalmologiaEncountering the clinical complexity of type II Peters anomaly management approaches: a case report.
The Pan African medical journalNovel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.
GenesSignificant helminthiasis, ocular defects and other disorders in an endangered population of red-billed choughs (Pyrrhocorax pyrrhocorax): A descriptive observational study.
The Veterinary recordClinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.
Quantitative imaging in medicine and surgeryAbl kinases regulate FGF signaling independent of Crk phosphorylation to prevent Peters anomaly.
bioRxiv : the preprint server for biologyKeratoplasty: are children missing out on the lamellar revolution-the 2023 Bowman Club, David L. Easty Lecture.
BMJ open ophthalmologyFurther Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease.
American journal of medical genetics. Part ALong-term Prognosis of Pediatric Ocular Disease.
Juntendo Iji zasshi = Juntendo medical journalCongenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Progress in retinal and eye researchPersistent foetal vasculature masquerading as Peters anomaly.
Eye (London, England)Swept-Source Anterior Segment OCT of Peters Anomaly Type 2.
OphthalmologyCorrelation of anterior segment optical coherence tomography and ultrasound biomicroscopy in congenital corneal opacity.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusBilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.
Acta paediatrica (Oslo, Norway : 1992)General Treatment and Ophthalmic Management of Peters' Anomaly.
Journal of clinical medicineClinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities.
Taiwan journal of ophthalmologyPeters anomaly: An overview.
Taiwan journal of ophthalmologyNovel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.
Genes[PETERS ANOMALY AND PETERS PLUS SYNDROME].
HarefuahRisk and Prognostic Factors for Glaucoma Associated with Peters Anomaly.
Journal of clinical medicine[Analysis of long-term outcomes of penetrating keratoplasty for congenital corneal opacity].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologyVariable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.
CorneaPeters Anomaly in One Premature Twin Following Hydroxychloroquine Exposure During Pregnancy: A Case Report.
Korean journal of ophthalmology : KJOFirst Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.
Molecular syndromologyOcular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.
CorneaAtypical corneal clouding in mucopolysaccharidoses.
Oman journal of ophthalmologyScleral Lens Applications Focused on Korean Patients with Various Corneal Disorders.
Korean journal of ophthalmology : KJOPeters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty.
Seminars in ophthalmologyDistinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.
Genes[Research progress of persistent hyperplastic primary vitreous with Peters anomaly].
[Zhonghua yan ke za zhi] Chinese journal of ophthalmologySelective Endothelialectomy in Peters Anomaly: A Novel Surgical Technique and Its Clinical Outcomes in Children.
CorneaUnilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report.
BMC ophthalmologyQuantitation of Pax-6 protein in ocular impression cytology samples using an electrochemiluminescence immunoassay.
Analytical biochemistrySelective endothelial removal: A case series of a phase I/II surgical trial with long-term follow up.
Frontiers in medicineNew Phenotypic Feature in a Patient With a Rare Triplication of the 22q11.2 Region Presenting With Peters Anomaly, Congenital Heart Disease, and Global Developmental Delay: A Case Report and Literature Review.
CureusAnterior synechiae after penetrating keratoplasty in infants and children with Peters' anomaly.
BMC ophthalmologyOphthalmic involvement in PHACES syndrome: prevalence, spectrum of anomalies, and outcomes.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusSurgical approach in type II Peters anomaly - case report.
Romanian journal of ophthalmologyCO2 laser-assisted sclerectomy surgery and trabeculectomy combination therapy in Peters' anomaly-related glaucoma: a case report.
International journal of ophthalmologyOutcomes of combined endoscopic vitrectomy and posteriorly placed glaucoma drainage devices in pediatric patients.
BMC ophthalmologyThe 2021 Congress of the International Society for Twin Studies: Twin Research at the Cutting Edge/Twin Research: Maternal Bonding with Twins; Twins with Peters Anomaly; Selective Termination in Dichorionic Twin Pairs; Neuropsychological Function in Twins with Neurofibromatosis/News Reports: World's Most Premature Survivor - A Twin; Twins Confuse Giants' Baseball Fans; Malaysian Twins Switched at Birth; 'Biracial' Twins.
Twin research and human genetics : the official journal of the International Society for Twin StudiesFirst evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.
Clinical geneticsPeter's anomaly-A homeotic gene disorder.
Acta paediatrica (Oslo, Norway : 1992)Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature.
MedicineLong-term experience and Visual Acuity outcomes in Peters Anomaly cases.
Archivos de la Sociedad Espanola de OftalmologiaApproach to childhood glaucoma: A review.
Clinical & experimental ophthalmologyClinical management of a rare Peters' anomaly-induced secondary childhood glaucoma: A case report.
Narra JLong-term Experience and Visual Acuity Outcomes in Patients With Peters Anomaly.
Journal of pediatric ophthalmology and strabismusGlaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.
GenesT-cell Lymphoblastic Lymphoma in a Patient With Chromosome 8q21.11 Microdeletion.
Journal of pediatric hematology/oncologyVisual Outcomes in Pediatric Patients with Peters Anomaly.
Clinical ophthalmology (Auckland, N.Z.)Phenotypic Spectrum of Peters Anomaly: Implications for Management.
CorneaPeters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.
The Journal of biological chemistryNovel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.
Ophthalmic geneticsPenetrating Keratoplasty in Infants With Peters Anomaly: Visual and Graft Outcomes.
CorneaShort-Term Outcomes of Pediatric Keratoprosthesis With the Near-Complete Conjunctival Flap.
CorneaPAX8 Expression in the Crystalline Lens and Lens-Derived Lesions.
Ophthalmology sciencePeters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.
CorneaActivation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.
Journal of medical geneticsIntegrated Intraoperative Optical Coherence Tomography for Pediatric Lamellar Corneal Transplant Surgery.
Developments in ophthalmologyCorneal Remodeling in Peters Anomaly.
OphthalmologyFirst observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.
BMC ophthalmologyThe Ocular Neural Crest: Specification, Migration, and Then What?
Frontiers in cell and developmental biologyDominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.
Clinical geneticsNovel Mutations in COL6A3 That Associated With Peters' Anomaly Caused Abnormal Intracellular Protein Retention and Decreased Cellular Resistance to Oxidative Stress.
Frontiers in cell and developmental biologyEndoscope-assisted scleral buckle procedure.
International journal of retina and vitreousIdentification of a New Genetic Mutation Associated With Peters Anomaly.
CorneaA mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.
Molecular visionBilateral primary hyperplastic persistent vitreous: report of two cases.
GMS ophthalmology casesGenetics Underlying the Interactions between Neural Crest Cells and Eye Development.
Journal of developmental biologyLong-Term Visual Outcomes and Clinical Course of Patients With Peters Anomaly.
CorneaA donor twin discordant with Peters anomaly in a twin-twin transfusion syndrome case: a case report.
BMC pregnancy and childbirthLacrimal drainage system involvement in Peters anomaly: clinical features and outcomes.
Orbit (Amsterdam, Netherlands)Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.
Ophthalmic geneticsKeratolenticular adhesion removal for type 2 Peters anomaly: a case report.
Eye and vision (London, England)Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusIndications for intraoperative anterior segment optical coherence tomography in corneal surgery.
International ophthalmologyA de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.
Ophthalmic geneticsOcular and brain imaging findings in Peters' anomaly: A case report and literature review.
Radiology case reportsSpontaneous bilateral corneal perforation in a neonate: A case report.
International journal of pediatrics & adolescent medicineUltrasound Biomicroscopy Detects Peters' Anomaly and Rieger's Anomaly in Infants.
Journal of ophthalmologyPeters Plus syndrome: a recognizable clinical entity.
The Turkish journal of pediatricsAnalysis of Graft Failure After Primary Penetrating Keratoplasty in Children With Peters Anomaly.
CorneaA case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.
Ophthalmic geneticsPeters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.
BMC ophthalmologyA Novel Surgical Approach in the Management of Peters Anomaly With Glaucoma.
Journal of pediatric ophthalmology and strabismusCauses of congenital corneal opacities and their management in a tertiary care center.
Arquivos brasileiros de oftalmologiaPeters anomaly: A 5-year experience.
Paediatric anaesthesia[Keratoplasty in children : Indications and results].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftTerminology of Peters' anomaly variants: Summary of histopathological findings in 6 corneas and detailed clinicopathological correlation in 2 cases.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyNovel variants in CDH2 are associated with a new syndrome including Peters anomaly.
Clinical geneticsA rare case of type 1 unilateral 'peripheral' Peters' anomaly.
Indian journal of ophthalmologySostdc1 is expressed in all major compartments of developing and adult mammalian eyes.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieGlaucoma and Cornea Surgery Outcomes in Peters Anomaly.
American journal of ophthalmologyXEN-augmented Baerveldt Implantation for Refractory Childhood Glaucoma: A Retrospective Case Series.
Journal of glaucomaDe Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.
American journal of human geneticsClinicopathologic Features and Treatment Characteristics of Congenital Corneal Opacity Infants and Children Aged 3 Years or Less: A Retrospective Single Institution Analysis.
Medical principles and practice : international journal of the Kuwait University, Health Science CentreVariable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases.
European journal of human genetics : EJHG[Glaucoma Surgery in Anterior Segment Dysgeneses].
Klinische Monatsblatter fur AugenheilkundePrimary descemetorhexis without graft placement for type 1 Peters anomaly.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologieOcular bleeding in an undiagnosed hemophiliac neonate causing irreversible loss of vision: A case report with review of the literature.
European journal of ophthalmology[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis].
Klinische Monatsblatter fur AugenheilkundePrenatal detection of Peters plus-like syndrome.
Turkish journal of obstetrics and gynecologyPeters Anomaly with Sequestered Lens in the Cornea.
Ophthalmology. GlaucomaCorrelation between age and corneal edema in pediatric patients with Peters anomaly.
International ophthalmology[Combined XEN and Baerveldt implant-principles and management of complications].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftSystemic Associations of Childhood Glaucoma: A Review.
Journal of pediatric ophthalmology and strabismusPhenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.
Human geneticsShallowing of the Anterior Chamber During Optical Iridectomy for Peters Anomaly.
JAMA ophthalmologyCongenital eye anomalies: More mosaic than thought?
Congenital anomaliesPediatric Corneal Transplants: Review of Current Practice Patterns.
CorneaVisual Diagnosis: Newborn Girl with Congenital Unilateral Eye Opacity.
Pediatrics in reviewOutcome of optical iridectomy in Peters anomaly.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie[Bilateral Peters anomaly without glaucoma].
Journal francais d'ophtalmologieSelective Endothelial Removal for Peters Anomaly.
CorneaIdentification of PITX3 mutations in individuals with various ocular developmental defects.
Ophthalmic geneticsIdentification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis.
Experimental eye researchBilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat.
The Journal of veterinary medical scienceCorrelation Between Clinical Examination and Diagnostic Imaging in Type II Peters Anomaly.
Journal of pediatric ophthalmology and strabismusOutcomes of Ahmed Glaucoma Valve Revision in Pediatric Glaucoma.
American journal of ophthalmologyPeters anomaly in PHACE syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusType II Peter's anomaly with histopathological proof: a case report.
BMC ophthalmologyA Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome.
Molecular syndromologyCongenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf.
The Journal of veterinary medical science[Long-term prognosis of Peters anomaly].
Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen GesellschaftThe challenging management of pediatric corneal transplantation: an overview of surgical and clinical experiences.
Japanese journal of ophthalmologyCombined vitrectomy and glaucoma drainage device implantation surgical approach for complex pediatric glaucomas.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusLong-Term Clinical Course in Eyes With Peters Anomaly.
CorneaA case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly.
GMS ophthalmology casesUnclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.
Seminars in ophthalmologyPeters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities.
Case reports in ophthalmologyPeters plus anomaly in a Cameroonian child: a case report.
International medical case reports journalAnalysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.
Molecular visionImpaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.
Scientific reportsOptimising keratoplasty for Peters' anomaly in infants using spectral-domain optical coherence tomography.
The British journal of ophthalmologyCorneal Leukoma with Features of Both Sclerocornea and Peter's Anomaly.
OphthalmologyAnterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice.
International journal of ophthalmology8q21.11 microdeletion in two patients with syndromic peters anomaly.
American journal of medical genetics. Part AUnilateral persistent fetal vasculature coexisting with anterior segment dysgenesia.
Archivos de la Sociedad Espanola de OftalmologiaFOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.
Nature communicationsA p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.
Journal of clinical research in pediatric endocrinologyRNA-binding proteins in eye development and disease: implication of conserved RNA granule components.
Wiley interdisciplinary reviews. RNALong-Term Corneal Endothelial Cell Counts After Penetrating Keratoplasty in Infants.
CorneaEvidence of the phenotypic expression of a lethal recessive allele under inbreeding in a wild population of conservation concern.
The Journal of animal ecology[Evaluation of Iris Morphology Viewed through Stromal Edematous Corneas by Infrared Camera].
Nippon Ganka Gakkai zasshiGiant Ocular Horn Occurring in a 10-Year-Old Female.
Ophthalmic plastic and reconstructive surgeryAccuracy of Intraocular Pressure Measurement With the Icare Tonometer in Children.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Image-guided femtosecond laser-assisted cataract surgery in Peters anomaly type 2.
Journal of cataract and refractive surgeryUnique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.
CorneaPathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly.
CorneaA novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review.
BMC ophthalmologyGenetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment.
CorneaDeficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly.
Developmental dynamics : an official publication of the American Association of AnatomistsPeters anomaly in cri-du-chat syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusUltrasound evaluation of glaucoma drainage devices in children.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusA Case of WAGR Syndrome with Peters' Anomaly.
Klinische Monatsblatter fur Augenheilkunde[Ultrasound biomicroscopy in infants with congenital corneal opacity and its correlations with clinical diagnosis and intraocular pressure].
Nippon Ganka Gakkai zasshiCataract surgery in children with congenital keratolenticular adhesion (Peters anomaly type 2).
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusMolecular description of eye defects in the zebrafish Pax6b mutant, sunrise, reveals a Pax6b-dependent genetic network in the developing anterior chamber.
PloS oneCombined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.
Ophthalmic geneticsAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Anomalia de Peters.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Anomalia de Peters
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
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.
- Iris-Derived Central Corneal Neovascularization in Peters Anomaly.
- Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
- Results of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.
- Peters Anomaly in a Miniature Schnauzer Documented by Spectral-Domain Optical Coherence Tomography: A Case Report.
- Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.
- Clinical features of syndromic microphthalmia in two novel RARB variants.
- Peters Plus Syndrome.
- Integrating clinical and genetic insights in anterior segment dysgenesis with glaucoma: A contemporary review.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:708(Orphanet)
- OMIM OMIM:604229(OMIM)
- MONDO:0011414(MONDO)
- GARD:7377(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q28024492(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
