Forma autossômica recessiva de glaucoma congênito causada por mutação(ões) no gene CYP1B1, que codifica o citocromo P450 1B1.
Introdução
O que você precisa saber de cara
Forma autossômica recessiva de glaucoma congênito causada por mutação(ões) no gene CYP1B1, que codifica o citocromo P450 1B1.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 22 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
4 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Autosomal recessive, Not applicable.
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.
Tyrosine-protein kinase that acts as a cell-surface receptor for ANGPT1, ANGPT2 and ANGPT4 and regulates angiogenesis, endothelial cell survival, proliferation, migration, adhesion and cell spreading, reorganization of the actin cytoskeleton, but also maintenance of vascular quiescence. Has anti-inflammatory effects by preventing the leakage of pro-inflammatory plasma proteins and leukocytes from blood vessels. Required for normal angiogenesis and heart development during embryogenesis. Required
Cell membraneCell junctionCell junction, focal adhesionCytoplasm, cytoskeletonSecreted
Dominantly inherited venous malformations
An error of vascular morphogenesis characterized by dilated, serpiginous channels.
Secreted glycoprotein regulating the activation of different signaling pathways in adjacent cells to control different processes including cell adhesion, cell-matrix adhesion, cytoskeleton organization and cell migration. Promotes substrate adhesion, spreading and formation of focal contacts. Negatively regulates cell-matrix adhesion and stress fiber assembly through Rho protein signal transduction. Modulates the organization of actin cytoskeleton by stimulating the formation of stress fibers th
SecretedGolgi apparatusCytoplasmic vesicleSecreted, extracellular spaceSecreted, extracellular space, extracellular matrixSecreted, extracellular exosomeMitochondrionMitochondrion intermembrane spaceMitochondrion inner membraneMitochondrion outer membraneRough endoplasmic reticulumCell projectionCell projection, ciliumEndoplasmic reticulum
Glaucoma 1, open angle, A
A form of primary open angle glaucoma (POAG). POAG is characterized by a specific pattern of optic nerve and visual field defects. The angle of the anterior chamber of the eye is open, and usually the intraocular pressure is increased. However, glaucoma can occur at any intraocular pressure. The disease is generally asymptomatic until the late stages, by which time significant and irreversible optic nerve damage has already taken place.
May play an integral structural role in elastic-fiber architectural organization and/or assembly
Secreted, extracellular space, extracellular matrix
Glaucoma 3, primary congenital, D
An autosomal recessive form of primary congenital glaucoma (PCG). PCG is characterized by marked increase of intraocular pressure at birth or early childhood, large ocular globes (buphthalmos) and corneal edema. It results from developmental defects of the trabecular meshwork and anterior chamber angle of the eye that prevent adequate drainage of aqueous humor.
Variantes genéticas (ClinVar)
396 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 330 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
9 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Glaucoma congênito
Centros de Referência SUS
24 centros habilitados pelo SUS para Glaucoma congênito
Centros para Glaucoma congênito
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.
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37 ensaios clínicos encontrados, 3 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 930
CaMKII-based gene therapy protects retinal ganglion cells in a broad range of disease: ischemic retinopathy and congenital glaucoma.
Degeneration of retinal ganglion cells (RGCs) and their axons, as observed in ischemic retinopathy and glaucoma, results in irreversible vision loss. Elevated intraocular pressure (IOP) is a key factor driving these conditions, with existing treatments focused on IOP reduction often proving inadequate to halt disease progression. Here, we report that CaMKII-based gene therapy robustly protects RGCs and preserves visual function in mouse models of ischemic injury and congenital glaucoma, positioning CaMKII as a broad therapeutic target for retinal diseases driven by acute and chronic IOP elevation that damage RGCs.
Comparison of 360-Degree Trabeculotomy versus Traditional Angle Surgery in Primary Congenital Glaucoma: A Systematic Review and Meta-Analysis.
Systematic meta-analysis demonstrates greater IOP reduction, fewer glaucoma medication use and higher surgical success rate with 360-degree trabeculotomy compared to traditional angle surgery in primary congenital glaucoma. Primary congenital glaucoma (PCG) is a rare vision threatening disorder, which can lead to blindness if untreated. The aim of the study is to compare the effectiveness of traditional angle surgery (goniotomy and rigid probe trabeculotomy) versus 360° trabeculotomy in children with PCG. A comprehensive search was conducted across PubMed, EMBASE, Scopus, Cochrane (CENTRAL), Science Direct and Clinicaltrials.gov. A total of 1740 studies were obtained from databases, and 12 studies, 3 RCTs and 9 Retrospective studies met the inclusion criteria. Mean Differences (MD) for continuous outcomes and Odds Ratios (OR) for dichotomous outcomes were analyzed. The primary outcomes were the reduction in intraocular pressure (IOP) and numbers of anti-glaucoma medications at 12 months postoperatively. Pooled analysis of 778 eyes demonstrated that 360° trabeculotomy showed significant reduction in IOP and number of anti-glaucoma medications compared to traditional angle surgery by -2.10 mmHg (-3.26,-0.94; P=0.0004, I²=55%) and -0.47 drops (-0.69, -0.25; P<0.0001, I²=55%), respectively. Compared to traditional angle surgery group, the 360° trabeculotomy group showed higher complete and qualified success rates with OR of 5.07 (3.43-7.50; P<0.0001, I²=4%) and 3.00 (1.47-6.12; P=0.003, I²=46%) respectively, and as well as, reduction in failure rate with OR of 0.18 (0.11-0.31; P<0.0001, I²=14%). No statistically significant differences were observed for post-operative axial length, change in cup/disc ratio, change in horizontal corneal diameter. 360° trabeculotomy showed greater reduction in IOP and number of anti-glaucoma medications postoperatively than traditional angle surgery with improved success and reduced failure rates.
Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments.
Congenital hereditary endothelial dystrophy (CHED) is a rare autosomal recessive disease more common in populations with high consanguinity. This review aims to provide a comprehensive overview of CHED focusing on the underlying genetic and molecular bases, listing identified mutations, and evaluating current and future therapeutic strategies. We performed a comprehensive literature review using PubMed with the keywords "Congenital hereditary endothelial dystrophy (CHED); SLC4A11 gene; Endothelial keratoplasty (EK) and pediatric corneal disease; Genetic therapy and corneal endothelial disease" from 1988 to 2025. Of the reviewed articles (n=494), English-language studies published in the last decade were prioritized and analyzed (n=107). CHED is commonly caused by biallelic SLC4A11 mutations, causing dysfunction of the corneal endothelium, progressive stromal edema, and visual loss. It typically manifests at birth or infancy as bilateral, asymmetric corneal opacification with variable severity. Although penetrating keratoplasty and EK remain the gold standards for the recovery of corneal transparency, novel therapeutics, including gene therapies and mitochondrial-targeted antioxidants, have shown promising results in preclinical studies. Emerging therapeutic strategies are likely to markedly change the current treatment of CHED with less invasive and more effective therapeutic options on the horizon.
Clinicopathologic Findings of Congenital Megalocornea in Three Blue-Throated Conures (Pyrrhura cruentata).
To describe the first known occurrence of megalocornea in a cohort of juvenile blue-throated conures (Pyrrhura cruentata). Three genetically related juvenile blue-throated conures. The information collected included physical and ophthalmic examination findings, ocular ultrasound biomicroscopy, Micro-CT analysis, postoperative outcomes following chemical cycloablation and/or enucleation, and histopathology. Ophthalmic examinations revealed multiple congenital ocular anomalies and bilateral blindness with the predominant feature of corneal enlargement. Several eyes developed corneal edema and exposure keratitis from lagophthalmos. Ultrasound biomicroscopy (UBM) showed a globoid cornea and enlarged anterior chamber with or without anterior displacement of the lens. Micro-CT analysis revealed normal skull conformation with bilateral enlargement of the anterior segments. An initial diagnosis of presumptive congenital glaucoma with buphthalmos was made. All conures had a chemical cycloablation procedure performed in the left eye to decrease ocular size. One conure had an enucleation of its right eye (OD) due to severe corneal ulceration. Two conures were humanely euthanized due to systemic health concerns shortly after initial presentation, and one died suddenly of a suspected cardiac event 8 years later. Ocular histopathology was performed on all 6 eyes of 3 conures, confirming a diagnosis of megalocornea with secondary ulcerative keratitis, stromal attenuation, and marked fibrosis with a discontinuous Descemet's membrane. This case series represents the first documented report of congenital megalocornea in blue-throated conures, which should be considered as a differential in birds with presumed buphthalmos from glaucoma.
Reduced Accommodation Without Mydriasis After Micropulse Cyclophotocoagulation in a Young Congenital Glaucoma Patient: A Case Report.
BACKGROUND Micropulse cyclophotocoagulation (MPCPC) is a commonly used procedure to reduce intraocular pressure (IOP) in glaucoma patients. While it is generally considered safer than traditional transscleral cyclophotocoagulation (TSCPC), complications such as transient mydriasis and reduced accommodation due to short ciliary nerve damage have been reported. However, isolated loss of accommodation without pupillary involvement has not been previously documented. We report a case of reduced accommodation without pupil dilation in a young patient after MPCPC. CASE REPORT A 26-year-old woman with primary congenital glaucoma, previously treated with goniotomy and trabeculectomy, had uncontrolled intraocular pressure (IOP) despite maximum medical therapy. Her best-corrected visual acuity (BCVA) was 20/60 in the right eye and 20/300 in the left. Micropulse cyclophotocoagulation (MPCPC) was performed in the right eye, and an Ahmed glaucoma valve was placed in the left eye on the same day. The postoperative IOP was 22 mmHg in the right eye and 16 mmHg in the left eye. After 2 weeks, the patient reported blurry vision in the right eye with BCVA of 20/60 in the right eye, and the anterior segment examination was unremarkable. After 6 months, she continued to experience blurry vision at near distance in her right eye. Refraction revealed a need for glasses with a near vision add of +1.5. CONCLUSIONS This case illustrates isolated accommodative dysfunction without pupillary involvement following MPCPC in a patient with congenital glaucoma, showing the need for awareness of this potential outcome, especially in young, phakic patients with a history of ocular surgeries.
Publicações recentes
Primary congenital glaucoma in a patient with CAFDADD syndrome carrying a rare TRAF7 variant.
A Rare Association of Congenital Glaucoma and Retinitis Pigmentosa: A 22-Year Follow-Up Case.
Spontaneously arrested primary congenital glaucoma.
Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.
Comparison of 360-Degree Trabeculotomy versus Traditional Angle Surgery in Primary Congenital Glaucoma: A Systematic Review and Meta-Analysis.
📚 EuropePMC1.318 artigos no totalmostrando 200
Comparison of 360-Degree Trabeculotomy versus Traditional Angle Surgery in Primary Congenital Glaucoma: A Systematic Review and Meta-Analysis.
Journal of glaucomaGenetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.
Molecular visionCongenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments.
Clinical ophthalmology (Auckland, N.Z.)Clinicopathologic Findings of Congenital Megalocornea in Three Blue-Throated Conures (Pyrrhura cruentata).
Veterinary ophthalmologyNeonatal Eye Diseases and Associated Factors in Calabar, Nigeria.
West African journal of medicineReduced Accommodation Without Mydriasis After Micropulse Cyclophotocoagulation in a Young Congenital Glaucoma Patient: A Case Report.
The American journal of case reportsFibrous ingrowth: an overlooked cause of Ahmed Glaucoma Valve failure.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieStudies of mice with a large deletion of the ARPKD-associated Pkhd1 locus likely explain its GWAS association with glaucoma in humans.
bioRxiv : the preprint server for biologyCornea as a window to the angle: striking anterior segment photography in neglected congenital glaucoma.
Eye (London, England)Comparing combined trabeculotomy-trabeculectomy with gonioscopy-assisted transluminal trabeculotomy as primary surgery for primary congenital glaucoma.
Indian journal of ophthalmologyManagement of primary congenital glaucoma in the Indian population.
Indian journal of ophthalmologyResults of Keratopigmentation with a Novel Technique Using a Microneedling Device: Dermapen.
CorneaOptic Disc Hemorrhage in a 6-Year-Old Boy with Treated Congenital Glaucoma.
Ophthalmology. GlaucomaSurgical procedures in glaucoma: A preferred practice pattern report by the Latin American Glaucoma Society.
Arquivos brasileiros de oftalmologiaCaMKII-based gene therapy protects retinal ganglion cells in a broad range of disease: ischemic retinopathy and congenital glaucoma.
Molecular therapy : the journal of the American Society of Gene TherapyMicropulse transscleral diode laser for pediatric glaucoma in Sturge-Weber syndrome: A bridge therapy to other treatments.
Archivos de la Sociedad Espanola de OftalmologiaPrevention and early intervention screening for inherited ocular diseases in Saudi Arabia: a national perspective.
Frontiers in ophthalmologyDe novo blood within Haab's Striae in congenital glaucoma.
European journal of ophthalmologyBilateral congenital glaucoma in a child with Nicolaides-Baraitser syndrome: a case report.
Annals of medicine and surgery (2012)Management and Histological Analysis of a Retroprosthetic Membrane as a Novel Complication After EndoArt Implantation.
CorneaImprovement of Postoperative Visual Outcomes in Children With Primary Congenital Glaucoma.
Eye & contact lensA Rare Case of Early Corneal Blood Staining After Post-operative Hyphema in a Child With Congenital Glaucoma and Haab's Striae.
Cureus[Neonatal Marfan's syndrome: A life-or-death emergency masquerading as congenital glaucoma].
Journal francais d'ophtalmologie[Haab's striae secondary to congenital glaucoma: Role of anterior segment OCT].
Journal francais d'ophtalmologieValidation of iCare IC200 tonometry during natural sleep in children under 3 years with glaucoma: reducing anesthesia dependence in clinical monitoring.
BMC ophthalmologyTopical Omidenepag Isopropyl Lowers Intraocular Pressure in Normal and Glaucomatous Cats: A Pilot Study.
Veterinary ophthalmologyConjunctival retraction with deposits after trabeculectomy.
American journal of ophthalmology case reportsShort stature in children with primary congenital glaucoma-a retrospective cross-sectional study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus[Diagnosis and management of congenital nasolacrimal duct obstruction].
Klinische Monatsblatter fur AugenheilkundeVisual Outcomes of Children With Primary Congenital Glaucoma Receiving Different Refractive Corrections: The CLEVR-PCG Randomized Clinical Trial.
JAMA ophthalmologyNext-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic Strategies.
International journal of molecular sciencesA novel indel CYP1B1 variant in a large multigenerational Pakistani family expands the mutation spectrum of primary congenital glaucoma.
Molecular biology reportsIntrastromal Fluid Cavity in Corneal Hydrops Secondary to Congenital Glaucoma.
Ophthalmology. GlaucomaCongenital Glaucoma in Patients with Neonatal Diabetes and Congenital Hypothyroidism (NDH) Syndrome.
Klinische Monatsblatter fur Augenheilkunde24-Month outcomes of gonioscopy-assisted transluminal trabeculotomy for congenital glaucoma.
Arquivos brasileiros de oftalmologiaCorneal endothelium in successfully operated primary congenital glaucoma eyes.
International ophthalmologyNational, regional, and provincial prevalence of glaucoma in China in 2020: an updated systematic review and modelling analysis.
Journal of global healthDiagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.
Survey of ophthalmologyIntraoperative and postoperative suprachoroidal hemorrhage in pediatric patients undergoing penetrating keratoplasty or Ahmed valve implantation.
Korean journal of ophthalmology : KJOBleb morphology following mitomycin-C sponge versus subconjunctival injection in deep sclerectomy for pediatric congenital glaucoma: A case report.
International journal of surgery case reportsClinical outcomes and safety profile of glaucoma drainage device Ahmed ClearPath® 250 mm2: a tertiary center experience.
International journal of ophthalmologyVirtual reality perimetry facilitates visual field evaluation in a previously non-assessable eye with severe glaucoma.
American journal of ophthalmology case reportsConventional probe trabeculotomy versus microcatheter-assisted 360° trabeculotomy (PIRATE) in childhood glaucoma-study protocol for a randomized controlled trial.
TrialsHaab Striae and Endothelial Injury in Congenital Glaucoma.
JAMA ophthalmologyOutcomes of Paediatric Glaucoma Surgery: Insights From a Five-Year Retrospective Study in Manchester.
CureusCongenital glaucoma prevention program-Evaluation of patient knowledge and acceptance of genetic screening.
Journal of genetic counselingSurgical Management of Primary Congenital Glaucoma: Results of a Nationwide Descriptive Study in France (CONGLAU).
Clinical ophthalmology (Auckland, N.Z.)Zika virus impairs autophagic flux in trabecular meshwork, and inhibition of autophagy restricts ocular viral transmission and associated pathology.
Microbiology spectrumLeveraging single-cell transcriptomics of developing rat ocular outflow tissues to prioritize congenital glaucoma candidate genes.
bioRxiv : the preprint server for biologyOutcomes of needle-assisted circumferential goniotomy (NAG) in primary congenital glaucoma (PCG).
Indian journal of ophthalmologySurgical management of primary congenital glaucoma in relation to disease severity: A 5-year follow-up at a tertiary referral center in southern Turkey.
Journal francais d'ophtalmologieCYP1B1-Associated Primary Congenital Glaucoma with Intracorneal Cleft Formation: Evidence of Intrauterine Descemet Membrane Rupture Mimicking Hydrops.
OphthalmologyIntrinsic disorder in CYP1B1 and its implications in primary congenital glaucoma pathogenesis.
Journal of proteins and proteomicsAssociation of oxidative stress biomarkers with primary congenital glaucoma.
PloS oneDelayed diagnosis of glaucoma in Coffin-Siris syndrome.
American journal of ophthalmology case reportsA Case of Congenital Glaucoma in a 5-Year-Old Patient With Sturge-Weber Syndrome and Oculodermal Melanocytosis.
Case reports in ophthalmological medicineAutomated measurement of ocular movements abnormalities in primary congenital glaucoma using DIVE device: A pilot study of fixation, smooth pursuit and saccadic movements.
Archivos de la Sociedad Espanola de OftalmologiaBilateral Choanal Atresia With Facial Deformity.
The Journal of craniofacial surgeryRetinal Detachment After Primary Congenital Glaucoma Surgery.
Journal of pediatric ophthalmology and strabismusPaucity of optineurin gene variants in Indian juvenile open-angle glaucoma patients.
Indian journal of ophthalmologyBrittle Cornea Syndrome Type 1 in Siblings: Severe Presentation in One and Misdiagnosis as Primary Congenital Glaucoma in the Other.
CorneaOutcomes in Primary Congenital Glaucoma, 2011-2023: L V Prasad Eye Institute, Hyderabad.
Ophthalmology. Glaucoma360° trabeculotomy ab externo with double access for the treatment of congenital glaucoma.
Arquivos brasileiros de oftalmologiaMultiple Descemet membrane splits in a neonate with Sturge weber syndrome.
Clinical & experimental optometryPreserflo™ microshunt for the treatment of refractory childhood glaucoma: A case series study.
American journal of ophthalmology case reportsNovel Genetic Variants and Clinical Profiles in Peters Anomaly Spectrum Disorders.
International journal of molecular sciencesTwo-Year Results of Gonioscopy-Assisted Transluminal Trabeculotomy Versus Ab Externo Visco Circumferential Suture Trabeculotomy in Primary Congenital Glaucoma.
Journal of glaucomaCorneal enlargement in congenital glaucoma exhibits predominant peripheral corneal thinning.
Scientific reportsGAINSeq: glaucoma pre-symptomatic detection using machine learning models driven by next-generation sequencing data.
Scientific reportsCongenital glaucoma associated with high hyperopia, an ophthalmic phenotypical manifestation for GLIS3 deletion: case report and review of literature.
Ophthalmic geneticsOlogen-Augmentation of Ahmed Valves in Pediatric Glaucomas: 2- to 6-Year Follow-up.
Ophthalmology. GlaucomaLuscan-Lumish syndrome: A case report.
World journal of clinical casesSurgical Outcomes and Risk Factors for Failure in Childhood Glaucoma: Analysis of the IRIS® Registry (Intelligent Research in Sight).
OphthalmologyHistopathological changes in the trabecular meshwork in primary congenital glaucoma.
American journal of ophthalmology case reportsNeonatal Visual Impairment: Etiologies, Screening, and Management.
NeoReviewsGenetic Analysis of CYP1B1 and Other Anterior Segment Dysgenesis-Associated Genes in Latvian Cohort of Primary Congenital Glaucoma.
BiomedicinesThe effect of treatment of primary congenital glaucoma on meibomian glands and tear film.
Eye (London, England)Optic disc morphology in congenital glaucoma.
Eye (London, England)Association of Maternal Exposure to Fine Particulate Matter During Pregnancy with Anterior Segment Dysgenesis Risk: A Matched Case-Control Study.
Journal of clinical medicineInfluence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.
Ophthalmology. GlaucomaTwo-Site Trabeculotomy vs. Gonioscopy-Assisted Transluminal Trabeculotomy in the Treatment of Primary Congenital Glaucoma: A Randomized Prospective Study.
Ophthalmology. GlaucomaPreliminary results of lateral interaction and radial deformity hyperacuity in children with glaucoma.
Scientific reportsManagement practices and surgical techniques for ab externo less invasive glaucoma surgery: a literature review and expert recommendations.
Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle OphthalmologieOutcomes of Susanna UF implants in refractory congenital glaucoma.
Clinics (Sao Paulo, Brazil)Ahmed Glaucoma Valve Implantation Versus Trabeculotomy as Initial Intervention for Primary Congenital Glaucoma-Long-Term Follow-Up.
Journal of glaucomaBleb revision and transscleral cyclophotocoagulation for congenital glaucoma patient with Turner syndrome and DMPK gene mutation: a case report.
International journal of ophthalmologyEnhanced Aqueous Humor Outflow Following Trabeculotomy in Primary Congenital Glaucoma Eyes.
Ophthalmology. GlaucomaSemi-automated evaluation of trabecular meshwork and schlemm canal imaged with OCT in children with normal eyes vs. primary congenital glaucoma.
Scientific reportsThe Role of Axial Length and Intraocular Pressure in the Follow-Up of Growing Children with Primary Congenital Glaucoma.
Journal of clinical medicinePathogenic variants identification in primary congenital glaucoma patients using whole exome sequencing.
Scientific reportsGlaucoma in retinopathy of prematurity: A review.
Survey of ophthalmologyA 15-year experience with keratoplasty in the management of paediatric corneal diseases: indications and clinical outcomes in Malaysia.
The Medical journal of MalaysiaInsights into CYP1B1-Related Ocular Diseases Through Genetics and Animal Studies.
Life (Basel, Switzerland)A Landmark Case of Childhood Glaucoma Care in Bangladesh: Gonioscopy-Assisted Transluminal Trabeculotomy in Primary Congenital Glaucoma.
CureusXRCC4-related microcephalic primordial dwarfism: description of a clinical series of 7 cases, phenotype expansion and new diagnostic approaches.
European journal of human genetics : EJHGNeurofibromatosis type 1 presenting as congenital glaucoma with associated plexiform neurofibroma.
Clinical and experimental dermatologyLong-term surgical outcomes of pediatric retinal detachment associated with primary congenital glaucoma.
Journal francais d'ophtalmologieFractal Dimension Analysis of Peripapillary Microvasculature in Primary Congenital Glaucoma.
Journal of glaucomaShifting Paradigms in Glaucoma Management: A Retrospective Analysis from 2013 to 2023.
Ophthalmic epidemiologyAnalysis of early-onset glaucoma genes in primary congenital glaucoma patients residing in North India identifies an additional case with THBS1 Arg1034Cys.
Ophthalmic geneticsBiallelic TEDC1 variants cause a new syndrome with severe growth impairment and endocrine complications.
European journal of human genetics : EJHGGeneration of a homozygous CPAMD8 knockout human embryonic stem cell line (WAe009-A-2R) by CRISPR/Cas9 system.
Stem cell researchCDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management.
Clinical geneticsInfluence of Social Determinants of Health on Presentation and Outcomes of Primary Congenital Glaucoma.
Ophthalmology. GlaucomaSubscleral trabeculectomy with Ologen implant versus mitomycin C in primary infantile glaucoma.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyLong-term surgical results and comparison in childhood glaucoma.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyMicrocatheter-assisted trabeculotomy in the treatment of primary congenital glaucoma: Current perspectives.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyOutcomes of microcatheter-assisted trabeculotomy in adult patients with primary congenital glaucoma and juvenile open-angle glaucoma: A case series.
Saudi journal of ophthalmology : official journal of the Saudi Ophthalmological SocietyPrimary Congenital and Childhood Glaucoma-A Complex Clinical Picture and Surgical Management.
Diagnostics (Basel, Switzerland)Circumferential gonioscopy-assisted transluminal trabeculotomy as first-line treatment for primary congenital glaucoma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusRisk of Congenital Ocular Anomaly After Prenatal Exposure to Medications: A EUROmediCAT Study.
Birth defects researchZebrafish Cyp1b1 knockout alters eye and brain metabolomic profiles, affecting ocular and neurobehavioral function.
Toxicology and applied pharmacologyOne-year results of double site versus single site rigid probe viscotrabeculotomy in primary congenital glaucoma.
European journal of ophthalmologySurgical outcomes after trabeculotomy for primary congenital glaucoma.
Japanese journal of ophthalmologyUse of Harms trabeculotome to assist failed microcatheter advancement during trabeculotomy in primary congenital glaucoma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusA Survey of the Congenital Glaucoma Surgery Practice Patterns in the Indian Pediatric Glaucoma Society.
Seminars in ophthalmologyBilateral Primary Congenital Glaucoma in a Newborn.
The Journal of pediatricsGuardian Knowledge in Primary Congenital Glaucoma.
Journal of glaucomaFunctional genomics of primary congenital glaucoma by pathway analysis and functional characterization of CYP1B1 mutations.
Vision researchClinical characteristics and ultrasound biomicroscopic evaluation of anterior segment dysgenesis: a retrospective cross-sectional study.
Quantitative imaging in medicine and surgeryPotential Involvements of Anterior Segment Dysgenesis-Associated Genes in Primary Congenital Glaucoma.
Seminars in ophthalmologyAhmed Glaucoma Valve Implantation in Jordan: Indications and Complications.
Clinical ophthalmology (Auckland, N.Z.)Rare finding of bilateral Urrets-Zavalia syndrome post Descemet's stripping endothelial keratoplasty in congenital hereditary endothelial dystrophy in a child.
BMJ case reports[Glaucoma drainage devices: Indications, intraoperative management and postoperative follow-up].
Klinische Monatsblatter fur AugenheilkundeYouTube as a Source of Knowledge for Childhood Glaucoma.
Journal of pediatric ophthalmology and strabismusTreatment Patterns of Childhood Glaucoma in the United States: Analysis of IRISⓇ Registry (Intelligent Research in Sight).
American journal of ophthalmologyEffects of 0.024% latanoprostene bunod on intraocular pressure and pupil diameter in normal cats and cats with congenital glaucoma.
Veterinary ophthalmologyEstablishment of a CPAMD8-GFP reporter human embryonic stem cell line, IBBDe001-B, using CRISPR/Cas9 editing.
Stem cell researchOutcomes of Circumferential Versus Hemi-gonioscopy-Assisted Transluminal Trabeculotomy for Congenital Glaucoma.
American journal of ophthalmologyClinical profile and etiological spectrum of patients presenting with corneal hydrops over a 12-year period.
International ophthalmologyNovel postzygotic RASA1 mutation in a patient with Parkes Weber syndrome: A case report and literature review.
Clinical case reportsElucidating the roles of SOD3 correlated genes and reactive oxygen species in rare human diseases using a bioinformatic-ontology approach.
PloS oneThe secondary childhood glaucomas.
Survey of ophthalmologyAn unusual presentation of glaucoma in a neonate with Rubinstein-Taybi syndrome.
Ophthalmic geneticsEffect of Haab's striae on corneal parameters in primary congenital glaucoma.
Indian journal of ophthalmologyTrabecular Meshwork Abnormalities in a Model of Congenital Glaucoma Due to LTBP2 Mutation.
Investigative ophthalmology & visual scienceComparison between modified and conventional combined Trabeculotomy-Trabeculectomy with Mitomycin-C for intraocular pressure reduction in primary congenital glaucoma.
Pakistan journal of medical sciencesSturge-Weber Syndrome accompanied by Epilepsy and congenital glaucoma: A case report.
Asian journal of surgeryThe Robison D. Harley, MD Childhood Glaucoma Research Network International Pediatric Glaucoma Registry: The First 872 Cases.
Ophthalmology. GlaucomaPotential Involvements of Cilia-Centrosomal Genes in Primary Congenital Glaucoma.
International journal of molecular sciencesLong-term outcomes of Ahmed glaucoma drainage device capsulectomies in pediatric glaucoma patients.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusCongenital glaucoma in brittle cornea syndrome type 2 with a novel mutation in PRDM5.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus[Importance of parental compliance in postoperative rehabilitation of children with glaucoma].
Vestnik oftalmologiiLong-term follow-up results and visual outcomes of childhood glaucoma in the black sea region of turkey.
International ophthalmologyChildhood glaucoma: Implications for genetic counselling.
Clinical geneticsGlaucoma-Protective Human Single-Nucleotide Polymorphism in the Angpt2 Locus Increased ANGPT2 Expression and Schlemm Canal Area in Mice-Brief Report.
Arteriosclerosis, thrombosis, and vascular biologyLong-term Visual Acuity Outcomes of Deep Sclerectomy in Pediatric Glaucoma.
Journal of glaucomaComparison of Bent Ab-Interno Needle Goniectomy and Goniotomy in Primary Congenital Glaucoma: A Randomized Controlled Trial.
Ophthalmology. GlaucomaMutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals.
Japanese journal of ophthalmologyModified viscotrabeculotomy versus modified trabeculotomy in late-onset primary congenital, juvenile, and secondary open-angle glaucoma.
European journal of ophthalmologyPrognostic Significance of Early Postoperative Choroidal Detachment in Patients with Congenital Glaucoma Operated with Nonpenetrating Deep Sclerectomy.
Journal of ophthalmologyCongenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.
Progress in retinal and eye researchTwo-Year Results of Gonioscopy-Assisted Transluminal Trabeculotomy in Primary Congenital Glaucoma.
Journal of glaucomaThe Red Reflex Test and Leukocoria in Childhood.
Acta medica portuguesaRisk factors for suprachoroidal hemorrhage associated with glaucoma surgery in children: a case-control study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusMowat-Wilson syndrome: Case report.
MedicineExome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.
Birth defects researchProgression to bilaterality in unilateral primary congenital glaucoma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusEfficacy and safety of the paul glaucoma implant in the treatment of refractory primary congenital glaucoma.
Japanese journal of ophthalmologyComparison of angle-to-angle distance and corneal diameter in pediatric eyes using ultrasound biomicroscopy.
PloS oneIncidence and Risk Factors for Retinal Detachment Following Pediatric Cataract Surgery.
Clinical ophthalmology (Auckland, N.Z.)TEK gene-related primary congenital glaucoma: Phenotypic features and mutational spectrum in a Mexican cohort of 10 unrelated families.
American journal of medical genetics. Part ALong-term efficacy and safety of posterior endoscopic cyclophotocoagulation in refractory glaucoma: A 5-year follow-up study at a tertiary eye center.
Asia-Pacific journal of ophthalmology (Philadelphia, Pa.)Congenital Nasolacrimal Duct Obstruction - Early Diagnosis and Graded Therapeutic Approach as Key Points for Successful Management.
Seminars in ophthalmologyA Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.
Journal of pediatric ophthalmology and strabismusIncreasing the diagnostic yield of childhood glaucoma cases recruited into the 100,000 Genomes Project.
BMC genomicsComparative efficacies of 13 surgical interventions for primary congenital glaucoma in children: a network meta-analysis of randomized clinical trials.
International journal of surgery (London, England)[Structure of pediatric ophthalmic pathology in Uzbekistan].
Vestnik oftalmologiiEvaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis.
Cells & developmentRetinal abnormalities in a patient with cutis marmorata telangiectatica congenita.
BMJ case reportsEpidemiological analysis of congenital glaucoma: a national scenario.
Revista da Associacao Medica Brasileira (1992)Corneal aberrations in primary congenital glaucoma and its visual correlation.
International ophthalmologyMacular and peripapillary vascular parameters in the fellow eyes of unilateral primary congenital glaucoma: a comparative study.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusExploring the Genetic Landscape of Childhood Glaucoma.
Children (Basel, Switzerland)Chromatic vision and structural assessment in primary congenital glaucoma.
Scientific reportsNon-penetrating deep sclerectomy versus combined trabeculotomy-trabeculectomy in primary congenital glaucoma.
Medical hypothesis, discovery & innovation ophthalmology journalDistribution of TGFBI variants in patients with early onset glaucoma.
Molecular visionBilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia.
Case reports in geneticsUncommon Complication Post-deep Sclerectomy: Giant Retinal Tear.
CureusComplicated trabeculectomy converted into ab externo cyclodialysis.
Arquivos brasileiros de oftalmologiaPrimary congenital glaucoma in two siblings with different compound heterozygous CYP1B1 genotypes.
Ophthalmic geneticsPrevalence of pre-iridal monocellular and fibrovascular membranes in canine globes affected with congenital glaucoma associated with anterior segment dysgenesis, primary glaucoma associated with goniodysgenesis, and secondary glaucoma.
Frontiers in veterinary scienceFactors and outcomes associated with corneal edema and Haabs striae in primary congenital glaucoma.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusSystematic Review of Instruments for the Assessment of Patient-Reported Outcomes and Quality of Life in Patients with Childhood Glaucoma.
Ophthalmology. GlaucomaOutcomes of gonioscopy-assisted transluminal trabeculotomy in primary congenital glaucoma treatment: a retrospective study.
BMC ophthalmologyGenetic changes and testing associated with childhood glaucoma: A systematic review.
PloS oneSecondary intervention after failed initial intervention for primary congenital glaucoma.
Journal francais d'ophtalmologiePrenatal and Postnatal Ocular Abnormalities Following Congenital Zika Virus Infections: A Systematic Review.
Ocular immunology and inflammationComparative posterior corneal profile of keratoconus hydrops versus Haab's striae in congenital glaucoma.
Indian journal of ophthalmologyChildhood glaucoma profile in a Southwestern Ethiopia tertiary care center: a retrospective study.
BMC ophthalmologyClinical and diagnostic imaging profile of three anterior segment dysgenesis disorders presenting with infantile corneal opacities.
Taiwan journal of ophthalmologyApproach to primary congenital glaucoma: A perspective.
Taiwan journal of ophthalmologyOptic nerve compression: a rare ocular manifestation of Proteus syndrome.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusTrends in Childhood Glaucoma Prevalence and Incidence in South Korea, 2002-2019: A Nationwide Population-Based Study.
Journal of glaucomaUse of the Aurolab Aqueous Drainage Implant as a buckling element in pediatric retinal detachment with a preexisting glaucoma drainage device.
American journal of ophthalmology case reportsEffect of Trabeculodescemetic Window Perforation in Deep Sclerectomy on Intraocular Pressure in Primary Congenital Glaucoma.
Ophthalmology and therapyIn vivo identification of angle dysgenesis and its relation to genetic markers associated with glaucoma using artificial intelligence.
Indian journal of ophthalmologyPredictors of Glaucoma After Pediatric Cataract Surgery.
Journal of glaucomaQuality, Reliability, Technical Quality, and Readability of Google Online Information on Childhood Glaucoma.
Journal of pediatric ophthalmology and strabismusClinical Characteristics and Surgical Outcomes of Turkish Patients With Pediatric Glaucoma Who Underwent Glaucoma Surgery in a University Hospital.
Journal of pediatric ophthalmology and strabismusAssociações
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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.
- CaMKII-based gene therapy protects retinal ganglion cells in a broad range of disease: ischemic retinopathy and congenital glaucoma.Molecular therapy : the journal of the American Society of Gene Therapy· 2026· PMID 41635083mais citado
- Comparison of 360-Degree Trabeculotomy versus Traditional Angle Surgery in Primary Congenital Glaucoma: A Systematic Review and Meta-Analysis.
- Congenital Hereditary Endothelial Dystrophy: A Review of the Molecular Pathogenesis, Genetic Basis, and Emerging Treatments.
- Clinicopathologic Findings of Congenital Megalocornea in Three Blue-Throated Conures (Pyrrhura cruentata).
- Reduced Accommodation Without Mydriasis After Micropulse Cyclophotocoagulation in a Young Congenital Glaucoma Patient: A Case Report.
- Primary congenital glaucoma in a patient with CAFDADD syndrome carrying a rare TRAF7 variant.
- A Rare Association of Congenital Glaucoma and Retinitis Pigmentosa: A 22-Year Follow-Up Case.
- Spontaneously arrested primary congenital glaucoma.
- Primary congenital glaucoma in a patient with Coffin-siris syndrome type 1 due to an ARID1B mutation: a novel association.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:98976(Orphanet)
- OMIM OMIM:231300(OMIM)
- MONDO:0009277(MONDO)
- GARD:18224(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q3108582(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
