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Anomalia de Peters
ORPHA:708CID-10 · Q13.4CID-11 · 9C61.42OMIM 604229DOENÇA RARA

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.

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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.

Pesquisas ativas
2 ensaios
3 total registrados no ClinicalTrials.gov
Publicações científicas
428 artigos
Último publicado: 2026 Apr 6

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
60
pacientes catalogados
Início
Infancy
+ neonatal
🏥
SUS: Cobertura mínimaScore: 35%
Centros em: PA, PE, BA, CE, PB +10CID-10: Q13.4
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
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Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

👁️
Olhos
7 sintomas
🧠
Neurológico
2 sintomas
📏
Crescimento
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

100%prev.
Anomalia de Peters
90%prev.
Adelgaçamento da membrana de Descemet
Muito frequente (99-80%)
90%prev.
Sinequias anteriores da câmara anterior
Muito frequente (99-80%)
90%prev.
Opacificação do estroma corneano
Muito frequente (99-80%)
90%prev.
Opacificação central da córnea
Muito frequente (99-80%)
90%prev.
Catarata subcapsular
Muito frequente (99-80%)
20sintomas
Muito frequente (6)
Frequente (1)
Muito raro (2)
Sem dados (11)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Anomalia de PetersPeters anomaly
Muito frequente100%
Adelgaçamento da membrana de DescemetThinning of Descemet membrane
Muito frequente (99-80%)90%
Sinequias anteriores da câmara anteriorAnterior synechiae of the anterior chamber
Muito frequente (99-80%)90%
Opacificação do estroma corneanoOpacification of the corneal stroma
Muito frequente (99-80%)90%
Opacificação central da córneaCentral opacification of the cornea
Muito frequente (99-80%)90%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico428PubMed
Últimos 10 anos181publicações
Pico202027 papers
Linha do tempo
2026Hoje · 2026🧪 1977Primeiro ensaio clínico📈 2020Ano de pico
Publicações por ano (últimos 10 anos)

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.

CYP1B1Cytochrome P450 1B1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Endoplasmic reticulum membraneMicrosome membraneMitochondrion

VIAS BIOLÓGICAS (3)
Endogenous sterolsSynthesis of (16-20)-hydroxyeicosatetraenoic acids (HETE)Synthesis of epoxy (EET) and dihydroxyeicosatrienoic acids (DHET)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Nervo tibial
100.0 TPM
Cervix Endocervix
66.1 TPM
Fibroblastos
62.9 TPM
Fallopian Tube
58.5 TPM
Útero
53.7 TPM
OUTRAS DOENÇAS (5)
glaucoma 3Aanterior segment dysgenesis 6CYP1B1-related glaucoma with or without anterior segment dysgenesisjuvenile open angle glaucoma
HGNC:2597UniProt:Q16678
FOXC1Forkhead box protein C1Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (2)
Formation of the ureteric budFormation of intermediate mesoderm
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Artéria tibial
171.9 TPM
Aorta
171.6 TPM
Artéria coronária
95.5 TPM
Glândula salivar
63.9 TPM
Nervo tibial
45.8 TPM
OUTRAS DOENÇAS (7)
Axenfeld-Rieger syndrome type 3anterior segment dysgenesis 3Rieger anomalyPeters anomaly
HGNC:3800UniProt:Q12948
PAX6Paired box protein Pax-6Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

VIAS BIOLÓGICAS (5)
Synthesis, secretion, and inactivation of Glucagon-like Peptide-1 (GLP-1)Regulation of gene expression in beta cellsActivation of anterior HOX genes in hindbrain development during early embryogenesisFormation of the anterior neural plateSynthesis, secretion, and inactivation of Glucose-dependent Insulinotropic Polypeptide (GIP)
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Cérebro - Hemisfério cerebelar
40.8 TPM
Cerebelo
36.9 TPM
Córtex cerebral
3.5 TPM
Brain Caudate basal ganglia
3.4 TPM
Brain Anterior cingulate cortex BA24
3.3 TPM
OUTRAS DOENÇAS (17)
coloboma, ocular, autosomal dominantisolated optic nerve hypoplasiaautosomal dominant keratitisfoveal hypoplasia 1
HGNC:8620UniProt:P26367
FOXE3Forkhead box protein E3Disease-causing germline mutation(s) inDesconhecido
FUNÇÃO

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

LOCALIZAÇÃO

Nucleus

MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Baixa expressão)
Testículo
2.3 TPM
Nervo tibial
1.2 TPM
Cérebro - Hemisfério cerebelar
0.6 TPM
Cerebelo
0.6 TPM
Brain Putamen basal ganglia
0.6 TPM
INTERAÇÕES PROTEICAS (3)
OUTRAS DOENÇAS (5)
cataract 34 multiple typescongenital primary aphakiafamilial thoracic aortic aneurysm and aortic dissectionPeters anomaly
HGNC:3808UniProt:Q13461
PITX2Pituitary homeobox 2Candidate gene tested inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

NucleusCytoplasm

VIAS BIOLÓGICAS (1)
TFAP2 (AP-2) family regulates transcription of other transcription factors
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Tecido-específico)
Bladder
25.4 TPM
Pituitária
18.0 TPM
Músculo esquelético
16.0 TPM
Esôfago - Muscular
10.3 TPM
Esôfago - Junção
4.5 TPM
OUTRAS DOENÇAS (8)
ring dermoid of corneaanterior segment dysgenesis 4Axenfeld-Rieger syndrome type 1Peters anomaly
HGNC:9005UniProt:Q99697

Variantes genéticas (ClinVar)

719 variantes patogênicas registradas no ClinVar.

🧬 PITX2: NM_000325.6(PITX2):c.350del (p.Pro117fs) ()
🧬 PITX2: NM_000325.6(PITX2):c.592_604dup (p.Pro202fs) ()
🧬 PITX2: NM_000325.6(PITX2):c.256_257insA (p.Pro86fs) ()
🧬 PITX2: NM_000325.6(PITX2):c.838del (p.Tyr280fs) ()
🧬 PITX2: NM_000325.6(PITX2):c.206-48G>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 2 variantes classificadas pelo ClinVar.

2
Patogênica (100.0%)
VARIANTES MAIS SIGNIFICATIVAS
PITX2: NM_000325.6(PITX2):c.412-2A>T [Pathogenic]
PAX6: NM_001368894.2(PAX6):c.76C>G (p.Arg26Gly) [Pathogenic/Likely pathogenic]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico2
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 2 ensaios
Carregando informações de tratamento...

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

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Publicações mais relevantes

🥈Melhor nível de evidência: Coorte
Timeline de publicações
177 papers (10 anos)
#1

Iris-Derived Central Corneal Neovascularization in Peters Anomaly.

JAMA ophthalmology2026 Feb 01

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.

#2

Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.

Veterinary ophthalmology2026 Mar

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.

#3

Results of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.

Cornea2026 Feb 09

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.

#4

Peters Anomaly in a Miniature Schnauzer Documented by Spectral-Domain Optical Coherence Tomography: A Case Report.

Clinical case reports2026 Mar

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.

#5

Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.

Life (Basel, Switzerland)2026 Jan 08

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.

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📚 EuropePMC219 artigos no totalmostrando 178

2026

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Results of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.

Cornea
2026

Peters Anomaly in a Miniature Schnauzer Documented by Spectral-Domain Optical Coherence Tomography: A Case Report.

Clinical case reports
2026

Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.

Life (Basel, Switzerland)
2026

Novel variant in FGFR2 in a family with anterior segment anomalies.

Ophthalmic genetics
2026

Iris-Derived Central Corneal Neovascularization in Peters Anomaly.

JAMA ophthalmology
2026

Anatomical and Functional Outcomes of Rotational Autokeratoplasty in Children: A Multicenter Retrospective Study.

Cornea
2025

Intraoperative and postoperative suprachoroidal hemorrhage in pediatric patients undergoing penetrating keratoplasty or Ahmed valve implantation.

Korean journal of ophthalmology : KJO
2026

Two-Piece Mushroom Penetrating Keratoplasty With "Pull-Through" Technique to Manage High Vitreous Pressure in Infant Eyes.

Cornea
2025

Low Vision Rehabilitation in a Family Affected by Peters' Anomaly Syndrome.

Clinical optometry
2025

Managing Persistent Pupillary Membranes With Surgery or Medication: A Report of Three Cases.

Cureus
2025

Novel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.

International journal of molecular sciences
2025

Quantitative analysis of intraocular pressure and clinical-morphometric characteristics in Peters' anomaly: a single-center study.

Frontiers in medicine
2025

Association of Maternal Exposure to Fine Particulate Matter During Pregnancy with Anterior Segment Dysgenesis Risk: A Matched Case-Control Study.

Journal of clinical medicine
2025

Diagnostic 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 endocrinology
2025

Insights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.

Life (Basel, Switzerland)
2025

Comprehensive Analysis of Congenital Aniridia and Differential Diagnoses: Genetic Insights and Clinical Manifestations.

Ophthalmology and therapy
2025

mTOR regulates Wnt signaling to promote tension-mediated lens vesicle closure.

bioRxiv : the preprint server for biology
2025

XEN 63 in a case of refractory glaucoma secondary to microphthalmia and aphakia.

Archivos de la Sociedad Espanola de Oftalmologia
2024

Encountering the clinical complexity of type II Peters anomaly management approaches: a case report.

The Pan African medical journal
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Novel Intragenic and Genomic Variants Highlight the Phenotypic Variability in HCCS-Related Disease.

Genes
2025

Significant helminthiasis, ocular defects and other disorders in an endangered population of red-billed choughs (Pyrrhocorax pyrrhocorax): A descriptive observational study.

The Veterinary record
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Clinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.

Quantitative imaging in medicine and surgery
2024

Abl kinases regulate FGF signaling independent of Crk phosphorylation to prevent Peters anomaly.

bioRxiv : the preprint server for biology
2024

Keratoplasty: are children missing out on the lamellar revolution-the 2023 Bowman Club, David L. Easty Lecture.

BMJ open ophthalmology
2025

Further Evidence for a Possible Role for ZFHX4 in Human Ocular Development and Disease.

American journal of medical genetics. Part A
2024

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Juntendo Iji zasshi = Juntendo medical journal
2024

Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.

Progress in retinal and eye research
2024

Persistent foetal vasculature masquerading as Peters anomaly.

Eye (London, England)
2025

Swept-Source Anterior Segment OCT of Peters Anomaly Type 2.

Ophthalmology
2024

Correlation 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 Strabismus
2024

Bilateral Peters' anomaly, aniridia and Wilms tumour (WAGR syndrome) in monozygotic twins.

Acta paediatrica (Oslo, Norway : 1992)
2024

General Treatment and Ophthalmic Management of Peters' Anomaly.

Journal of clinical medicine
2023

Clinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities.

Taiwan journal of ophthalmology
2023

Peters anomaly: An overview.

Taiwan journal of ophthalmology
2023

Novel Loss of Function Variants in CENPF Including a Large Intragenic Deletion in Patients with Strømme Syndrome.

Genes
2023

[PETERS ANOMALY AND PETERS PLUS SYNDROME].

Harefuah
2023

Risk and Prognostic Factors for Glaucoma Associated with Peters Anomaly.

Journal of clinical medicine
2023

[Analysis of long-term outcomes of penetrating keratoplasty for congenital corneal opacity].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2024

Variable Phenotype of Congenital Corneal Opacities in Biallelic CYP1B1 Pathogenic Variants.

Cornea
2023

Peters Anomaly in One Premature Twin Following Hydroxychloroquine Exposure During Pregnancy: A Case Report.

Korean journal of ophthalmology : KJO
2023

First Report of Mexican Patients with PACS1-Related Neurodevelopmental Disorder and Review of the PACS1-, PACS2-, and WDR37-Related Ophthalmological Manifestations.

Molecular syndromology
2023

Ocular Manifestations of Peters Plus-Like Syndrome in 8q21.11 Microdeletion Syndrome.

Cornea
2023

Atypical corneal clouding in mucopolysaccharidoses.

Oman journal of ophthalmology
2023

Scleral Lens Applications Focused on Korean Patients with Various Corneal Disorders.

Korean journal of ophthalmology : KJO
2023

Peters Anomaly: Novel Non-Invasive Alternatives to Penetrating Keratoplasty.

Seminars in ophthalmology
2023

Distinct Roles of Histone Lysine Demethylases and Methyltransferases in Developmental Eye Disease.

Genes
2022

[Research progress of persistent hyperplastic primary vitreous with Peters anomaly].

[Zhonghua yan ke za zhi] Chinese journal of ophthalmology
2022

Selective Endothelialectomy in Peters Anomaly: A Novel Surgical Technique and Its Clinical Outcomes in Children.

Cornea
2022

Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report.

BMC ophthalmology
2022

Quantitation of Pax-6 protein in ocular impression cytology samples using an electrochemiluminescence immunoassay.

Analytical biochemistry
2022

Selective endothelial removal: A case series of a phase I/II surgical trial with long-term follow up.

Frontiers in medicine
2022

New 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.

Cureus
2022

Anterior synechiae after penetrating keratoplasty in infants and children with Peters' anomaly.

BMC ophthalmology
2022

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Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2022

Surgical approach in type II Peters anomaly - case report.

Romanian journal of ophthalmology
2022

CO2 laser-assisted sclerectomy surgery and trabeculectomy combination therapy in Peters' anomaly-related glaucoma: a case report.

International journal of ophthalmology
2022

Outcomes of combined endoscopic vitrectomy and posteriorly placed glaucoma drainage devices in pediatric patients.

BMC ophthalmology
2022

The 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 Studies
2022

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients.

Clinical genetics
2022

Peter's anomaly-A homeotic gene disorder.

Acta paediatrica (Oslo, Norway : 1992)
2022

Case report of the rare Peters' anomaly complicated with Axenfeld-Rieger syndrome: A case report and brief review of the literature.

Medicine
2022

Long-term experience and Visual Acuity outcomes in Peters Anomaly cases.

Archivos de la Sociedad Espanola de Oftalmologia
2022

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Clinical &amp; experimental ophthalmology
2021

Clinical management of a rare Peters' anomaly-induced secondary childhood glaucoma: A case report.

Narra J
2021

Long-term Experience and Visual Acuity Outcomes in Patients With Peters Anomaly.

Journal of pediatric ophthalmology and strabismus
2021

Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders.

Genes
2022

T-cell Lymphoblastic Lymphoma in a Patient With Chromosome 8q21.11 Microdeletion.

Journal of pediatric hematology/oncology
2021

Visual Outcomes in Pediatric Patients with Peters Anomaly.

Clinical ophthalmology (Auckland, N.Z.)
2022

Phenotypic Spectrum of Peters Anomaly: Implications for Management.

Cornea
2021

Peters plus syndrome mutations affect the function and stability of human β1,3-glucosyltransferase.

The Journal of biological chemistry
2021

Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins.

Ophthalmic genetics
2021

Penetrating Keratoplasty in Infants With Peters Anomaly: Visual and Graft Outcomes.

Cornea
2021

Short-Term Outcomes of Pediatric Keratoprosthesis With the Near-Complete Conjunctival Flap.

Cornea
2021

PAX8 Expression in the Crystalline Lens and Lens-Derived Lesions.

Ophthalmology science
2021

Peters Anomaly in Nail-Patella Syndrome: A Case Report and Clinico-Genetic Correlation.

Cornea
2022

Activation of cryptic donor splice sites by non-coding and coding PAX6 variants contributes to congenital aniridia.

Journal of medical genetics
2021

Integrated Intraoperative Optical Coherence Tomography for Pediatric Lamellar Corneal Transplant Surgery.

Developments in ophthalmology
2021

Corneal Remodeling in Peters Anomaly.

Ophthalmology
2021

First observation of secondary childhood glaucoma in Coffin-Siris syndrome: a case report and literature review.

BMC ophthalmology
2020

The Ocular Neural Crest: Specification, Migration, and Then What?

Frontiers in cell and developmental biology
2021

Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia.

Clinical genetics
2020

Novel 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 biology
2020

Endoscope-assisted scleral buckle procedure.

International journal of retina and vitreous
2021

Identification of a New Genetic Mutation Associated With Peters Anomaly.

Cornea
2020

A mutation in DOP1B identified as a probable cause for autosomal recessive Peters anomaly in a consanguineous family.

Molecular vision
2020

Bilateral primary hyperplastic persistent vitreous: report of two cases.

GMS ophthalmology cases
2020

Genetics Underlying the Interactions between Neural Crest Cells and Eye Development.

Journal of developmental biology
2021

Long-Term Visual Outcomes and Clinical Course of Patients With Peters Anomaly.

Cornea
2020

A donor twin discordant with Peters anomaly in a twin-twin transfusion syndrome case: a case report.

BMC pregnancy and childbirth
2021

Lacrimal drainage system involvement in Peters anomaly: clinical features and outcomes.

Orbit (Amsterdam, Netherlands)
2020

Atypical presentation of Cat Eye Syndrome in an infant with Peters anomaly and microphthalmia with cyst.

Ophthalmic genetics
2020

Keratolenticular adhesion removal for type 2 Peters anomaly: a case report.

Eye and vision (London, England)
2020

Adams-Oliver syndrome: a case of bilateral progressive ischemic maculopathy.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2020

Indications for intraoperative anterior segment optical coherence tomography in corneal surgery.

International ophthalmology
2020

A de novo mutation in PITX2 underlies a unique form of Axenfeld-Rieger syndrome with corneal neovascularization and extensive proliferative vitreoretinopathy.

Ophthalmic genetics
2020

Ocular and brain imaging findings in Peters' anomaly: A case report and literature review.

Radiology case reports
2020

Spontaneous bilateral corneal perforation in a neonate: A case report.

International journal of pediatrics &amp; adolescent medicine
2020

Ultrasound Biomicroscopy Detects Peters' Anomaly and Rieger's Anomaly in Infants.

Journal of ophthalmology
2020

Peters Plus syndrome: a recognizable clinical entity.

The Turkish journal of pediatrics
2020

Analysis of Graft Failure After Primary Penetrating Keratoplasty in Children With Peters Anomaly.

Cornea
2020

A case of childhood glaucoma with a combined partial monosomy 6p25 and partial trisomy 18p11 due to an unbalanced translocation.

Ophthalmic genetics
2020

Peters plus syndrome and Chorioretinal findings associated with B3GLCT gene mutation - a case report.

BMC ophthalmology
2020

A Novel Surgical Approach in the Management of Peters Anomaly With Glaucoma.

Journal of pediatric ophthalmology and strabismus
2020

Causes of congenital corneal opacities and their management in a tertiary care center.

Arquivos brasileiros de oftalmologia
2020

Peters anomaly: A 5-year experience.

Paediatric anaesthesia
2020

[Keratoplasty in children : Indications and results].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2019

Terminology 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 Society
2020

Novel variants in CDH2 are associated with a new syndrome including Peters anomaly.

Clinical genetics
2019

A rare case of type 1 unilateral 'peripheral' Peters' anomaly.

Indian journal of ophthalmology
2019

Sostdc1 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 Ophthalmologie
2019

Glaucoma and Cornea Surgery Outcomes in Peters Anomaly.

American journal of ophthalmology
2019

XEN-augmented Baerveldt Implantation for Refractory Childhood Glaucoma: A Retrospective Case Series.

Journal of glaucoma
2019

De Novo Missense Variants in WDR37 Cause a Severe Multisystemic Syndrome.

American journal of human genetics
2020

Clinicopathologic 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 Centre
2019

Variable 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
2019

[Glaucoma Surgery in Anterior Segment Dysgeneses].

Klinische Monatsblatter fur Augenheilkunde
2019

Primary descemetorhexis without graft placement for type 1 Peters anomaly.

Canadian journal of ophthalmology. Journal canadien d'ophtalmologie
2020

Ocular bleeding in an undiagnosed hemophiliac neonate causing irreversible loss of vision: A case report with review of the literature.

European journal of ophthalmology
2019

[Clinical and Genetic Characteristics of Ocular Developmental Disorders: MAC-Spectrum, Anterior Segment Dysgenesis].

Klinische Monatsblatter fur Augenheilkunde
2018

Prenatal detection of Peters plus-like syndrome.

Turkish journal of obstetrics and gynecology
2019

Peters Anomaly with Sequestered Lens in the Cornea.

Ophthalmology. Glaucoma
2019

Correlation between age and corneal edema in pediatric patients with Peters anomaly.

International ophthalmology
2019

[Combined XEN and Baerveldt implant-principles and management of complications].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2018

Systemic Associations of Childhood Glaucoma: A Review.

Journal of pediatric ophthalmology and strabismus
2019

Phenotype-genotype correlations and emerging pathways in ocular anterior segment dysgenesis.

Human genetics
2018

Shallowing of the Anterior Chamber During Optical Iridectomy for Peters Anomaly.

JAMA ophthalmology
2019

Congenital eye anomalies: More mosaic than thought?

Congenital anomalies
2018

Pediatric Corneal Transplants: Review of Current Practice Patterns.

Cornea
2018

Visual Diagnosis: Newborn Girl with Congenital Unilateral Eye Opacity.

Pediatrics in review
2018

Outcome of optical iridectomy in Peters anomaly.

Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
2018

[Bilateral Peters anomaly without glaucoma].

Journal francais d'ophtalmologie
2018

Selective Endothelial Removal for Peters Anomaly.

Cornea
2018

Identification of PITX3 mutations in individuals with various ocular developmental defects.

Ophthalmic genetics
2018

Identification of OAF and PVRL1 as candidate genes for an ocular anomaly characterized by Peters anomaly type 2 and ectopia lentis.

Experimental eye research
2018

Bilateral anterior segment dysgenesis with the presumed Peters' anomaly in a cat.

The Journal of veterinary medical science
2017

Correlation Between Clinical Examination and Diagnostic Imaging in Type II Peters Anomaly.

Journal of pediatric ophthalmology and strabismus
2017

Outcomes of Ahmed Glaucoma Valve Revision in Pediatric Glaucoma.

American journal of ophthalmology
2017

Peters anomaly in PHACE syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2017

Type II Peter's anomaly with histopathological proof: a case report.

BMC ophthalmology
2017

A Novel Mutation in PITX2 in a Patient with Axenfeld-Rieger Syndrome.

Molecular syndromology
2017

Congenital anterior staphyloma associated with Peters' anomaly and aphakia in a Holstein calf.

The Journal of veterinary medical science
2018

[Long-term prognosis of Peters anomaly].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
2017

The challenging management of pediatric corneal transplantation: an overview of surgical and clinical experiences.

Japanese journal of ophthalmology
2017

Combined 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 Strabismus
2017

Long-Term Clinical Course in Eyes With Peters Anomaly.

Cornea
2017

A case of morning glory syndrome associated with persistent hyperplastic primary vitreous and Peters' anomaly.

GMS ophthalmology cases
2018

Unclassified Axenfeld-Rieger Syndrome: A CASE SERIES and Review of Literature.

Seminars in ophthalmology
2016

Peters Anomaly in Twins: A Case Report of a Rare Incident with Novel Comorbidities.

Case reports in ophthalmology
2016

Peters plus anomaly in a Cameroonian child: a case report.

International medical case reports journal
2016

Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes.

Molecular vision
2016

Impaired ADAMTS9 secretion: A potential mechanism for eye defects in Peters Plus Syndrome.

Scientific reports
2017

Optimising keratoplasty for Peters' anomaly in infants using spectral-domain optical coherence tomography.

The British journal of ophthalmology
2016

Corneal Leukoma with Features of Both Sclerocornea and Peter's Anomaly.

Ophthalmology
2016

Anterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice.

International journal of ophthalmology
2016

8q21.11 microdeletion in two patients with syndromic peters anomaly.

American journal of medical genetics. Part A
2017

Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesia.

Archivos de la Sociedad Espanola de Oftalmologia
2016

FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1.

Nature communications
2016

A p.(Glu809Lys) Mutation in the WFS1 Gene Associated with Wolfram-like Syndrome: A Case Report.

Journal of clinical research in pediatric endocrinology
2016

RNA-binding proteins in eye development and disease: implication of conserved RNA granule components.

Wiley interdisciplinary reviews. RNA
2016

Long-Term Corneal Endothelial Cell Counts After Penetrating Keratoplasty in Infants.

Cornea
2016

Evidence of the phenotypic expression of a lethal recessive allele under inbreeding in a wild population of conservation concern.

The Journal of animal ecology
2016

[Evaluation of Iris Morphology Viewed through Stromal Edematous Corneas by Infrared Camera].

Nippon Ganka Gakkai zasshi
2017

Giant Ocular Horn Occurring in a 10-Year-Old Female.

Ophthalmic plastic and reconstructive surgery
2015

Accuracy of Intraocular Pressure Measurement With the Icare Tonometer in Children.

Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)
2015

Image-guided femtosecond laser-assisted cataract surgery in Peters anomaly type 2.

Journal of cataract and refractive surgery
2016

Unique Presentation of Corneal Opacity in Peters Plus Syndrome: An Unusual Form of Peters Anomaly Showing Tissue Repair in Serial Analysis.

Cornea
2016

Pathological and Immunohistochemical Alterations of the Cornea in Congenital Corneal Opacification Secondary to Primary Congenital Glaucoma and Peters Anomaly.

Cornea
2015

A novel histopathologic finding in the Descemet's membrane of a patient with Peters Anomaly: a case-report and literature review.

BMC ophthalmology
2015

Genetics of Congenital Corneal Opacification--Impact on Diagnosis and Treatment.

Cornea
2015

Deficiency of the RNA binding protein caprin2 causes lens defects and features of Peters anomaly.

Developmental dynamics : an official publication of the American Association of Anatomists
2015

Peters anomaly in cri-du-chat syndrome.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2015

Ultrasound evaluation of glaucoma drainage devices in children.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
2015

A Case of WAGR Syndrome with Peters' Anomaly.

Klinische Monatsblatter fur Augenheilkunde
2015

[Ultrasound biomicroscopy in infants with congenital corneal opacity and its correlations with clinical diagnosis and intraocular pressure].

Nippon Ganka Gakkai zasshi
2015

Cataract 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 Strabismus
2015

Molecular description of eye defects in the zebrafish Pax6b mutant, sunrise, reveals a Pax6b-dependent genetic network in the developing anterior chamber.

PloS one
2015

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

Ophthalmic genetics
Ver todos os 219 no EuropePMC

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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.

  1. Iris-Derived Central Corneal Neovascularization in Peters Anomaly.
    JAMA ophthalmology· 2026· PMID 41452619mais citado
  2. Bilateral Eyelid Agenesis With Multiple Congenital Ocular Anomalies in an Australian Labradoodle Puppy: Case Report and Surgical Management.
    Veterinary ophthalmology· 2026· PMID 41766489mais citado
  3. Results of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.
    Cornea· 2026· PMID 41738879mais citado
  4. Peters Anomaly in a Miniature Schnauzer Documented by Spectral-Domain Optical Coherence Tomography: A Case Report.
    Clinical case reports· 2026· PMID 41737976mais citado
  5. Prenatal Diagnosis of Peters-Plus Syndrome: A Case Report.
    Life (Basel, Switzerland)· 2026· PMID 41598247mais citado
  6. Clinical features of syndromic microphthalmia in two novel RARB variants.
    Hum Genome Var· 2026· PMID 41942473recente
  7. Peters Plus Syndrome.
    · 1993· PMID 20301637recente
  8. Integrating clinical and genetic insights in anterior segment dysgenesis with glaucoma: A contemporary review.
    Eur J Ophthalmol· 2026· PMID 41936534recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:708(Orphanet)
  2. OMIM OMIM:604229(OMIM)
  3. MONDO:0011414(MONDO)
  4. GARD:7377(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Anomalia de Peters
Compêndio · Raras BR

Anomalia de Peters

ORPHA:708 · MONDO:0011414
Prevalência
<1 / 1 000 000
Casos
60 casos conhecidos
Herança
Autosomal dominant, Autosomal recessive
CID-10
Q13.4 · Outras malformações congênitas da córnea
CID-11
Ensaios
2 ativos
Início
Infancy, Neonatal
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C0344559
EuropePMC
Wikidata
Papers 10a
Evidência
🥈 Coorte
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