Mechanistic Insights into Axenfeld–Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants

French, Curtis R.

doi:10.3390/ijms221810001

Cited by 12 publications

(17 citation statements)

References 69 publications

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“…3,15,[24][25][26][27][28][29][30][31] Reports in the literature have suggested that FOXC1 mutations are more likely to cause isolated ocular findings such that craniofacial and dental anomalies are rare. 3,32 This is in contrast to PITX2 mutations, which in addition to anterior segment dysgenesis have been reported to be commonly associated with craniofacial abnormalities. 3,[32][33][34] Further, a more recent study showed that FOXC1 mutations had more corneal involvement and higher incidence of glaucoma in contrast to PITX2 mutations which showed more iris abnormalities.…”

Section: Ars Genetics and Pathogenesismentioning

confidence: 93%

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Michels¹,

Bohnsack²

2023

OPTH

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Axenfeld-Rieger syndrome (ARS) is a rare congenital disease that is primarily characterized by ocular anterior segment anomalies but is also associated with craniofacial, dental, cardiac, and neurologic abnormalities. Over half of cases are linked with autosomal dominant mutations in either FOXC1 or PITX2, which reflects the molecular role of these genes in regulating neural crest cell contributions to the eye, face, and heart. Within the eye, ARS is classically defined as the combination of posterior embryotoxon with iris bridging strands (Axenfeld anomaly) and iris hypoplasia causing corectopia and pseudopolycoria (Rieger anomaly). Glaucoma due to iridogoniodysgenesis is the main source of morbidity and is typically diagnosed during infancy or childhood in over half of affected individuals. Angle bypass surgery, such as glaucoma drainage devices and trabeculectomies, is often needed to obtain intraocular pressure control. A multi-disciplinary approach including glaucoma specialists and pediatric ophthalmologists produces optimal outcomes as vision is dependent on many factors including glaucoma, refractive error, amblyopia and strabismus. Further, since ophthalmologists often make the diagnosis, it is important to refer patients with ARS to other specialists including dentistry, cardiology, and neurology.

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Section: Ars Genetics and Pathogenesismentioning

confidence: 93%

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Michels¹,

Bohnsack²

2023

OPTH

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“…The most striking feature of Axenfeld–Rieger Syndrome (ARS) is developmental abnormalities in the anterior segment of the eye, leading to an increased risk of early-onset glaucoma. With loss-of-function techniques in zebrafish (CRISPR and morpholino), several zebrafish models have been reported to recapitulate the phenotypes of patients with ARS attributable to the foxc1 gene mutations (reviewed by [ 39 ]. Morales-Cámara et al (2021) [ 63 ] studied the involvement of guanylate cyclase activator 1C ( guca1c ) in the pathophysiology of primary congenital glaucoma through the generation of a guca1c knocked out zebrafish, which presented cell apoptosis and gliosis, with the Müller cells intensifying the expression of glial fibrillary acidic protein.…”

Section: Zebrafish As a Model For Ocular Pathologiesmentioning

confidence: 99%

An Overview towards Zebrafish Larvae as a Model for Ocular Diseases

Rosa

Lopes-Ferreira

Lima

2023

IJMS

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Despite the obvious morphological differences in the visual system, zebrafish share a similar architecture and components of the same embryonic origin as humans. The zebrafish retina has the same layered structure and cell types with similar metabolic and phototransduction support as humans, and is functional 72 h after fertilization, allowing tests of visual function to be performed. The zebrafish genomic database supports genetic mapping studies as well as gene editing, both of which are useful in the ophthalmological field. It is possible to model ocular disorders in zebrafish, as well as inherited retinal diseases or congenital or acquired malformations. Several approaches allow the evaluation of local pathological processes derived from systemic disorders, such as chemical exposure to produce retinal hypoxia or glucose exposure to produce hyperglycemia, mimicking retinopathy of prematurity or diabetic retinopathy, respectively. The pathogenesis of ocular infections, autoimmune diseases, or aging can also be assessed in zebrafish larvae, and the preserved cellular and molecular immune mechanisms can be assessed. Finally, the zebrafish model for the study of the pathologies of the visual system complements certain deficiencies in experimental models of mammals since the regeneration of the zebrafish retina is a valuable tool for the study of degenerative processes and the discovery of new drugs and therapies.

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“…Current data report an incidence of Xenfeld-Rieger syndrome in the population of 1: 200,000 while there is no definitive data on a gender and racial prevalence [9,10]. The mutation in genes of two transcription factors, FOXC1, FOXC2, FKHL7, PANCR and PITX2 [11][12][13][14], represent almost half of the known cases while the genetic defect is not known in 60%.…”

Section: Introductionmentioning

confidence: 99%

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report

et al. 2022

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Axenfeld–Rieger Syndrome (ARS) is a rare autosomal dominant genetic disease with considerable expressive variability, characterized by ocular and non-ocular manifestations, cardiovascular, mild craniofacial abnormalities and dental malformations. Current data report an incidence of Xenfeld-Rieger syndrome in the population of 1: 200,000.The case described is that of a 14-year-old female patient whose ARS is suspected and investigated following a dental specialist visit for orthodontic reasons, acquired the patient’s family and clinical data following a medical approach multidisciplinary, we proceed to the orthodontic involved the use of the Rapid Palatal Expander (RPE) and a fixed orthodontic treatment.The aim of this study is to report the case of the orthopaedic and orthodontic treatment in a patient affected by ARS and with facial dysmorphism and teeth anomalies associated to ocular anomalies.

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Mechanistic Insights into Axenfeld–Rieger Syndrome from Zebrafish foxc1 and pitx2 Mutants

Cited by 12 publications

References 69 publications

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

Ophthalmological Manifestations of Axenfeld-Rieger Syndrome: Current Perspectives

An Overview towards Zebrafish Larvae as a Model for Ocular Diseases

Axenfeld–Rieger syndrome: orthopedic and orthodontic management in a pediatric patient: a case report

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