Research By Disease – CheckOrphan

Disease: Anterior segment mesenchymal dysgenesis

Closing the Gap: Mechanisms of Epithelial Fusion During Optic Fissure Closure
3 Flying baby anterior segment OCT in the diagnosis of anterior segment dysgenesis
A case of anterior segment dysgenesis showing change in anterior eye features
A novel missense variant expands the phenotype and genotype of PAX6-associated foveal hypoplasia accompanied by various manifestations of anterior segment dysgenesis
A novel mouse model of anterior segment dysgenesis (ASD): conditional deletion of Tsc1 disrupts ciliary body and iris development
A rare case of congenital pupillary abnormality: a case report
A rare case of unilateral anterior segment dysgenesis and limb deformity in a neonate
A rare genotype of biallelic mosaic variants in BCOR gene causing a bilateral ocular anterior segment dysgenesis and cataracts
A temporal single cell transcriptome atlas of zebrafish anterior segment development
Absence of Goniodysgenesis in Patients with Chromosome 13Q Microdeletion-Related Microcoria
Absence of NR2E1 mutations in patients with aniridia
An FGF3-BMP Signaling Axis Regulates Caudal Neural Tube Closure, Neural Crest Specification and Anterior-Posterior Axis Extension
Analysis of genotype-phenotype correlation in Walker-Warburg syndrome with a novel CRPPA mutation in different clinical manifestations
Anterior segment dysgenesis (Peters' anomaly) in two snow leopard (Panthera uncia) cubs
Anterior segment dysgenesis and early-onset glaucoma in nee mice with mutation of Sh3pxd2b
Anterior segment dysgenesis and secondary glaucoma in Goldenhar syndrome
Anterior segment dysgenesis correlation with epithelial-mesenchymal transition in Smad4 knockout mice
Anterior segment dysgenesis: Insights into the genetics and pathogenesis
Association between Fundus Tessellation and Contrast Sensitivity in Myopic Eyes
Association of Variants in TMEM45A With Keratoglobus
Axenfeld-Rieger syndrome: a novel histopathologic finding associated with corneal abnormalities
Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3
Bilateral anterior segment dysgenesis in an infant with partial trisomy 16q and partial monosomy 3p
Bilateral ocular abnormalities in a wild stranded harp seal (Phoca groenlandica) suggestive of anterior segment dysgenesis and persistent hyperplastic primary vitreous
Case of Pierson syndrome presented with hyphema,vitrous haemorrhage and subsequent neovascular glaucoma
COL4A1 Mutation in a Neonate With Intrauterine Stroke and Anterior Segment Dysgenesis
Commentary: Genomic testing is a powerful tool in diagnosing and managing anterior segment dysgenesis
Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?
Comparing Gene Panels for Non-Retinal Indications: A Systematic Review
Comparison of different pupil dilatation methods for phacoemulsification in eyes with a small pupil
Conditional deletion of AP-2β in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma
Congenital aniridia beyond black eyes: From phenotype and novel genetic mechanisms to innovative therapeutic approaches
Congenital eye anomalies: More mosaic than thought?
Congenital pterygium with anterior segment dysgenesis: rare ocular manifestation in Rubinstein-Taybi syndrome
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
Diagnostic ophthalmology
Differences in neural crest sensitivity to ethanol account for the infrequency of anterior segment defects in the eye compared with craniofacial anomalies in a zebrafish model of fetal alcohol syndrome
Dominant variants in PRR12 result in unilateral or bilateral complex microphthalmia
Early-Onset Myopia and Retinal Detachment without Typical Microcoria or Severe Proteinuria due to a Novel LAMB2 Variant
Elevated TGFβ signaling contributes to ocular anterior segment dysgenesis in Col4a1 mutant mice
Endoscopic cyclophotocoagulation (ECP) for childhood glaucoma: a large single-center cohort experience
EPHA2 biallelic disruption causes syndromic complex microphthalmia with iris hypoplasia
Evaluating neural crest cell migration in a Col4a1 mutant mouse model of ocular anterior segment dysgenesis
Feline Neovascular Vitreoretinopathy and Anterior Segment Dysgenesis With Concurrent Glaucoma in Domestic Cats
FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1
Foxf2: a novel locus for anterior segment dysgenesis adjacent to the Foxc1 gene
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse
Genetics of the anterior segment dysgenesis
Glaucoma Associated with Anterior Segment Dysgenesis in Dogs and Cats
Glaucoma Syndromes: Insights into Glaucoma Genetics and Pathogenesis from Monogenic Syndromic Disorders
Histopathological examination of congenital corneal staphyloma and prognosis after penetrating keratoplasty
Identification of a New Genetic Mutation Associated With Peters Anomaly
Identification of fibronectin 1 as a candidate genetic modifier in a Col4a1 mutant mouse model of Gould syndrome
Identification of PITX3 mutations in individuals with various ocular developmental defects
Immune responses to injury and their links to eye disease
Implantable Collamer Lens Subluxation in a Patient with Lenticular Coloboma: A Case Report
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
Investigating the Clinical Characteristics and PITX3Mutations of a Large Chinese Family with Anterior Segment Mesenchymal Dysgenesis and Congenital Posterior Polar Cataract
Knockout of miR-184 in zebrafish leads to ocular abnormalities by elevating p21 levels
Lens-specific conditional knockout of Msx2 in mice leads to ocular anterior segment dysgenesis via activation of a calcium signaling pathway
Long-term outcomes in Primary congenital glaucoma, aniridia and anterior segment dysgenesis
Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC
Microphthalmia With Multiple Anterior Segment Defects in Portuguese Water Dogs
Missense Mutations in MAB21L1: Causation of Novel Autosomal Dominant Ocular BAMD Syndrome
Molecular characterization of Axenfeld-Rieger spectrum and other anterior segment dysgeneses in a sample of Mexican patients
Molecular diagnostic challenges for non-retinal developmental eye disorders in the United Kingdom
Mutation analysis of the genes associated with anterior segment dysgenesis, microcornea and microphthalmia in 257 patients with glaucoma
Mutation update of transcription factor genes FOXE3, HSF4, MAF, and PITX3 causing cataracts and other developmental ocular defects
Mutations of conserved non-coding elements of PITX2 in patients with ocular dysgenesis and developmental glaucoma
Novel Biallelic Variants and Phenotypic Features in Patients with SLC38A8-Related Foveal Hypoplasia
Novel heterozygous variants in PXDN cause different anterior segment dysgenesis phenotypes in monozygotic twins
Novel prenatally diagnosed compound heterozygous PXDN variants in fetal congenital primary aphakia and blepharophimosis
Novel PXDN biallelic variants in patients with microphthalmia and anterior segment dysgenesis
Ocular anterior segment dysgenesis upon ablation of p120 catenin in neural crest cells
Ocular phenotypic consequences of a single copy deletion of the Yap1 gene (Yap1 +/-) in mice
Outcomes following tacrolimus systemic immunosuppression for penetrating keratoplasty in infants and young children
PITX2 and FOXC1 spectrum of mutations in ocular syndromes
Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort
Primary cilia deficiency in neural crest cells models anterior segment dysgenesis in mouse
Primary Cilium in Neural Crest Cells Crucial for Anterior Segment Development and Corneal Avascularity
Primary congenital glaucoma: An iridotrabeculodysgenesis?
Relationship between neural crest cell specification and rare ocular diseases
Ring chromosome 6 in a child with anterior segment dysgenesis and review of its overlap with other FOXC1 deletion phenotypes
Spatiotemporal Characterization of Anterior Segment Mesenchyme Heterogeneity During Zebrafish Ocular Anterior Segment Development
Spectrum of Genetic Variants Associated with Anterior Segment Dysgenesis in South Florida
Structural and functional consequences of PAX6 mutations in the brain: Implications for aniridia
Surgical treatment options for congenital/infantile corneal opacities and anterior segment dysgenesis
TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia
The Axenfeld-Rieger Syndrome Gene FOXC1 Contributes to Left-Right Patterning
The Missing Mesenchyme Captured-Axenfeld-Rieger Anomaly
The molecular genetics of anterior segment dysgenesis
Three Cases of Associated Persistent Fetal Vasculature and Ocular Coloboma: Posterior Segment Dysgenesis
Two sisters with microphthalmia and anterior segment dysgenesis secondary to a PAX6 pathogenic variant with clinically healthy parents: a case of gonadal mosaicism?
Unilateral buphthalmos, corneal staphyloma and corneal fistula caused by pathogenic variant in the PITX3 gene: a case report
Unilateral persistent fetal vasculature coexisting with anterior segment dysgenesis
Variable Anterior Segment Dysgenesis and Cardiac Anomalies Caused by a Novel Truncating Variant of FOXC1
What's retinoic acid got to do with it? Retinoic acid regulation of the neural crest in craniofacial and ocular development
Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development
Yeast two-hybrid analysis of a human trabecular meshwork cDNA library identified EFEMP2 as a novel PITX2 interacting protein