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Journal of Maxillofacial and Oral... Sep 2020Axenfeld-Rieger syndrome (ARS) is an extremely rare autosomal dominant disorder characterized by ocular, craniofacial, dental and periumbilical abnormalities. We present...
Axenfeld-Rieger syndrome (ARS) is an extremely rare autosomal dominant disorder characterized by ocular, craniofacial, dental and periumbilical abnormalities. We present a case of a 10-year-old boy. Its awareness among oral surgeons is essential for timely diagnosis and subsequent prevention of ophthalmic and systemic complications as craniofacial and dental features constitute the early recognizable symptoms of this syndrome. Systematic ophthalmic surgeries aid in relieving vision abnormalities, while symptomatic dental treatment should be provided for masticatory and esthetic rehabilitation.
PubMed: 32801529
DOI: 10.1007/s12663-019-01307-9 -
The Journal of Clinical Pediatric... 2005Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as... (Review)
Review
Axenfeld-Rieger syndrome is a rare autosomal dominant disorder characterized by various ocular and extraocular malformations. Dental abnormalities are considered as definitive features for the diagnosis and differentiation of Rieger syndrome from other anterior chamber of the eye malformations. A case of Rieger syndrome with distinct dental and craniofacial anomalies is described. Significant cranio-dento-facial findings that have been observed are, teeth with short and dilacerated roots, hyperplastic frenums and underdeveloped maxilla. There was an anterior crossbite, bilateral posterior open-bite and moderate to severe anterior crowding.
Topics: Abnormalities, Multiple; Child; Craniofacial Abnormalities; Eye Abnormalities; Facies; Humans; Male; Pedigree; Radiography; Syndrome; Tooth Abnormalities
PubMed: 16302606
DOI: 10.17796/jcpd.30.1.v1732398454r0244 -
Cureus Jun 2022Axenfeld-Rieger syndrome (ARS) is an autosomal dominant syndrome with a prevalence estimated at 1:50000 to 1:100000 in newborns. It is mainly characterized by ocular,...
Axenfeld-Rieger syndrome (ARS) is an autosomal dominant syndrome with a prevalence estimated at 1:50000 to 1:100000 in newborns. It is mainly characterized by ocular, craniofacial, and dental abnormalities. From the pediatric dentist's point of view, early diagnosis of the syndrome from the ocular, craniofacial, and dental manifestation can prevent further abnormalities and ocular complications such as glaucoma. This case report presents a brief description of ARS with the characteristics of craniofacial and dental findings.
PubMed: 35923678
DOI: 10.7759/cureus.26442 -
Genes Jan 2021Precise spatiotemporal expression of the -- cascade in the lateral plate mesoderm establishes the left-right axis, which provides vital cues for correct organ formation...
Precise spatiotemporal expression of the -- cascade in the lateral plate mesoderm establishes the left-right axis, which provides vital cues for correct organ formation and function. Mutations of one cascade constituent and, separately, the Forkhead transcription factor independently cause a multi-system disorder known as Axenfeld-Rieger syndrome (ARS). Since cardiac involvement is an established ARS phenotype and because disrupted left-right patterning can cause congenital heart defects, we investigated in zebrafish whether contributes to organ laterality or situs. We demonstrate that CRISPR/Cas9-generated and mutants exhibit abnormal cardiac looping and that the prevalence of cardiac situs defects is increased in ; homozygotes. Similarly, double homozygotes exhibit isomerism of the liver and pancreas, which are key features of abnormal gut situs. Placement of the asymmetric visceral organs relative to the midline was also perturbed by mRNA overexpression of and . In addition, an analysis of the left-right patterning components, identified in the lateral plate mesoderm of mutants, reduced or abolished the expression of the antagonist . Together, these data reveal a novel contribution from to left-right patterning, demonstrating that this role is sensitive to gene dosage, and provide a plausible mechanism for the incidence of congenital heart defects in Axenfeld-Rieger syndrome patients.
Topics: Alleles; Animals; Anterior Eye Segment; Computational Biology; Disease Models, Animal; Eye Abnormalities; Eye Diseases, Hereditary; Forkhead Transcription Factors; Gene Expression Profiling; Genetic Association Studies; Genetic Predisposition to Disease; Genotype; Humans; Mesoderm; Mutation; Phenotype; Zebrafish
PubMed: 33530637
DOI: 10.3390/genes12020170 -
Journal of Clinical Medicine Sep 2023Childhood glaucoma is one of the most common causes of corneal opacity in childhood and is associated with various pathological corneal changes, including corneal...
BACKGROUND
Childhood glaucoma is one of the most common causes of corneal opacity in childhood and is associated with various pathological corneal changes, including corneal enlargement, corneal clouding, and edema. Congenital glaucoma (CG) may cause a decrease in vision outcomes due to corneal opacity or clouding, which is often associated with stimulus deprivation amblyopia. Therefore, to create a balance between preventing amblyopia and sustaining corneal clearance, patients with CG can be managed with early penetrating corneal transplantation surgery along with advanced glaucoma management.
AIM
To investigate the graft survival rate and factors affecting graft survival in patients with congenital glaucoma who underwent penetrating keratoplasty (PKP).
STUDY DESIGN
Cross-sectional.
MATERIALS AND METHODS
Patients with congenital glaucoma who underwent PKP were retrospectively evaluated. The associations between age, corneal diameter, presence of ocular comorbidities, concurrent ocular surgeries with corneal graft, and visual outcomes were assessed.
RESULTS
Among the 30 eyes enrolled in the study, 6 (20%) had aniridia, 6 (20%) had Axenfeld-Rieger syndrome, and 18 (60%) were diagnosed with primary congenital glaucoma. Graft survival rates were 66.6% and 63.33% at 12 and 24 months, respectively. At the end of the follow-up, the overall graft survival rate was 60%. Statistical significance was observed between patient age at the time of surgery and graft failure ( = 0.02). Graft failure was associated with a younger patient age. Functional vision was achieved in 53.3% of patients.
CONCLUSIONS
The management of congenital glaucoma and its corneal complications is a delicate issue that requires great effort. PKP in congenital glaucoma was moderately successful in the present study. To provide functional vision, PKP could be the treatment of choice.
PubMed: 37834920
DOI: 10.3390/jcm12196276 -
Genes Sep 2021Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in... (Review)
Review
Monogenic syndromic disorders frequently feature ocular manifestations, one of which is glaucoma. In many cases, glaucoma in children may go undetected, especially in those that have other severe systemic conditions that affect other parts of the eye and the body. Similarly, glaucoma may be the first presenting sign of a systemic syndrome. Awareness of syndromes associated with glaucoma is thus critical both for medical geneticists and ophthalmologists. In this review, we highlight six categories of disorders that feature glaucoma and other ocular or systemic manifestations: anterior segment dysgenesis syndromes, aniridia, metabolic disorders, collagen/vascular disorders, immunogenetic disorders, and nanophthalmos. The genetics, ocular and systemic features, and current and future treatment strategies are discussed. Findings from rare diseases also uncover important genes and pathways that may be involved in more common forms of glaucoma, and potential novel therapeutic strategies to target these pathways.
Topics: Aniridia; Collagen Diseases; Eye Abnormalities; Eye Diseases, Hereditary; Glaucoma; Glaucoma, Angle-Closure; Humans; Hyperopia; Immune System Diseases; Metabolic Diseases; Microphthalmos; Syndrome; Vascular Diseases
PubMed: 34573386
DOI: 10.3390/genes12091403 -
Romanian Journal of Ophthalmology 2020to describe a clinical case of ocular hypertension (OHT) in Axenfeld-Rieger Syndrome (ARS). Observational case report of a 43-year-old woman with background of OHT....
to describe a clinical case of ocular hypertension (OHT) in Axenfeld-Rieger Syndrome (ARS). Observational case report of a 43-year-old woman with background of OHT. The data was collected originally with a standardized electronic medical record. A complete ophthalmologic examination was performed. In the biomicroscopy, a posterior embryotoxon, iris atrophy with absence of crypts and irregularity of pigmentation, and discoria in OU were observed. Gonioscopy revealed an open angle with a prominent and anterior displaced Schwalbe line. Ocular fundus (OF) demonstrated small and oblique papillae, with normal neurorretinal ring. Functional tests were normal. The patient did not present systemic pathologies, so the diagnosis of Rieger anomaly was made. The IOP control was achieved with aqueous humor suppressants. Glaucoma is the main cause of visual morbidity in patients with ARS, therefore a complete periodic ophthalmological exam is a priority. :ARS = Axenfeld-Rieger Syndrome, RP = retinitis pigmentosa, IOP = Intraocular Pressure, BCVA = Best Corrected Visual Acuity, OR = right eye, OS = left eye, OU = both eyes, OF = ocular fundus, OCT = optical coherence tomography, VF = visual field, TBC = trabeculectomy.
Topics: Adult; Anterior Chamber; Anterior Eye Segment; Eye Abnormalities; Eye Diseases, Hereditary; Female; Gonioscopy; Humans; Intraocular Pressure; Ocular Hypertension
PubMed: 33367186
DOI: 10.22336/rjo.2020.70 -
Journal of Neuroscience Research Feb 2015Transcriptional regulation of gene expression is vital for proper control of proliferation, migration, differentiation, and survival of developing neurons. Pitx2 encodes... (Review)
Review
Transcriptional regulation of gene expression is vital for proper control of proliferation, migration, differentiation, and survival of developing neurons. Pitx2 encodes a homeodomain transcription factor that is highly expressed in the developing and adult mammalian brain. In humans, mutations in PITX2 result in Rieger syndrome, characterized by defects in the development of the eyes, umbilicus, and teeth and variable abnormalities in the brain, including hydrocephalus and cerebellar hypoplasia. Alternative splicing of Pitx2 in the mouse results in three isoforms, Pitx2a, Pitx2b, and Pitx2c, each of which is expressed symmetrically along the left-right axis of the brain throughout development. Here, we review recent evidence for axial and brain region-specific requirements for Pitx2 during neuronal migration and differentiation, highlighting known isoform contributions.
Topics: Animals; Brain; Cell Differentiation; Cell Movement; Cell Proliferation; Homeodomain Proteins; Humans; Neurons; Transcription Factors; Homeobox Protein PITX2
PubMed: 25124216
DOI: 10.1002/jnr.23471 -
Journal of AAPOS : the Official... Dec 2022Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris...
Axenfeld-Rieger syndrome (ARS) is characterized by posterior embryotoxon, Axenfeld anomaly (adherent iris strands to Schwalbe's line), and Rieger anomaly (iris hypoplasia with corectopia or pseudopolycoria). There are a few case reports of optic nerve abnormalities associated with 6p25 deletion syndrome, which is a multigenic region that contains the FOXC1 gene. We present 4 patients with ARS, including 1 with a FOXC1 nonsense mutation, who also have prominent congenital optic nerve abnormalities.
Topics: Humans; Forkhead Transcription Factors; Eye Abnormalities; Anterior Eye Segment; Eye Diseases, Hereditary
PubMed: 36152758
DOI: 10.1016/j.jaapos.2022.08.263 -
Oncotarget Jan 2018In recent years, rapidly accumulating evidence implicates forkhead box C1 () in cancer, especially in studies of basal-like breast cancer (BLBC). Other studies have... (Review)
Review
In recent years, rapidly accumulating evidence implicates forkhead box C1 () in cancer, especially in studies of basal-like breast cancer (BLBC). Other studies have followed suit, demonstrating that is not only a major player in this breast cancer subtype, but also in hepatocellular carcinoma (HCC), endometrial cancer, Hodgkin's lymphoma (HL), and non-Hodgkin's lymphoma (NHL). The gene encodes a transcription factor that is crucial to mesodermal, neural crest, and ocular development, and mutations found in have been found to cause dominantly inherited Axenfeld-Rieger Syndrome (ARS). Interestingly, while missense mutations that are associated with ARS usually reduce gene activity, increased function now appears to be often linked to more aggressive cancer phenotypes in BLBC, HCC, HL, and NHL. This review discusses not only the role of in cancer cell progression, proliferation, differentiation, and metastasis, but also the underlying mechanisms of how can contribute to aggressive cancer phenotypes.
PubMed: 29487724
DOI: 10.18632/oncotarget.22742