scholarly journals Rieger anomaly and Axenfeld-Rieger syndrome: a rare anterior segment dysgenesis

2021 ◽  
Vol 106 (106(813)) ◽  
pp. 218-221
Author(s):  
J. Lacorzana ◽  
R. Rocha-da Silva ◽  
J.D. Sánchez-García ◽  
R. Rachwani-Anil ◽  
J.D. Martínez
Keyword(s):  
Anterior Segment ◽  
Dental Anomalies ◽  
Developmental Abnormalities ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
Dominant Disease ◽  
Systemic Manifestations ◽  
The One ◽  
Development And Management ◽  
Anterior Angle

Axenfeld Rieger Syndrome is anterior segment dysgenesis characterized by posterior embryotoxon and dysgenesis of the anterior chamber. Developmental abnormalities of the anterior angle cause increased resistance to outflow. Ocular hypertension is a complication in almost 50% of the cases. It is an autosomal dominant disease and its prevalence is between 50,000 and 100,000 newborns per year. The main associated affected genes are FOXC1 and PITX2, occurring in 40% of the cases. Axenfeld Rieger Syndrome can be associated with systemic manifestations such as dental anomalies (hypodontia and microdontia), facial anomalies (maxillary hypoplasia, telecanthus and hypertelorism), redundant paraumbilical skin, hypospadia, auditory and cardiac alterations. Within this syndrome, we distinguish different phenotypes, being the Rieger anomaly the one with least systemic affectation. We present three cases in different stages of the disease, which allow us to understand the development and management of this disorder.

scholarly journals Axenfeld-Rieger Syndrome: A Case Report with Literature Review

2021 ◽  
pp. 1-2
Author(s):  
Zakoun M ◽  
◽  
Belghmaidi S ◽  
Keyword(s):  
Case Report ◽  
Autosomal Dominant ◽  
Anterior Segment ◽  
Autosomal Dominant Disorder ◽  
Maxillary Hypoplasia ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
Ocular Manifestations ◽  
Systemic Manifestations ◽  
Anterior Angle

Axenfeld–Rieger syndrome (ARS) is a rare autosomal dominant disorder that has both systemic and ocular anterior segment dysgenesis. The ocular manifestations include posterior embryotoxon, iris and anterior angle abnomalies with a high risk of glaucoma and blindness. The systemic manifestations can include craniofacial abnomalies such as maxillary hypoplasia, hypodontia, oligodontia and microdont.

scholarly journals Lgr4 in Ocular Development and Glaucoma

2013 ◽  
Vol 2013 ◽  
pp. 1-9 ◽  
Author(s):  
Stefan Siwko ◽  
Li Lai ◽  
Jinsheng Weng ◽  
Mingyao Liu
Keyword(s):  
Anterior Segment ◽  
Cell Loss ◽  
Retinal Ganglion ◽  
Leucine Rich Repeat ◽  
Full Understanding ◽  
Ocular Development ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
G Protein Coupled ◽  
Retinal Vascularization

The leucine-rich repeat-containing G protein-coupled receptor 4 (LGR4, also called GPR48) plays a key role in multiple developmental processes, and mice lackingLgr4display anterior segment dysgenesis leading to early-onset glaucomatous retinal ganglion cell loss as well as defective eyelid formation. This paper will review Lgr4 signaling and its regulation of the Axenfeld-Rieger syndrome genePitx2, a crucial developmental transcription factor. In addition, Wnt signaling plays an important role in eye development, with Norrin functioning to activate the Wnt receptor Frizzled 4 required for proper retinal vascularization. Recent discoveries identifying Lgr4 as a receptor for Norrin highlight the potential for Lgr4 function in retinal vascularization. Finally, several unanswered questions impeding a full understanding of Lgr4 in glaucoma are considered as avenues for further research.

scholarly journals Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld–Rieger syndrome and anterior segment dysgenesis

2006 ◽  
Vol 15 (6) ◽  
pp. 905-919 ◽  
Author(s):  
Fred B. Berry ◽  
Matthew A. Lines ◽  
J. Martin Oas ◽  
Tim Footz ◽  
D. Alan Underhill ◽  
...  
Keyword(s):  
Anterior Segment ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
Functional Interactions ◽  
Gene Dose

scholarly journals Congenital glaucoma with anterior segment dysgenesis in individuals with biallelic CPAMD8 variants

2018 ◽  
Author(s):  
Owen M Siggs ◽  
Emmanuelle Souzeau ◽  
Deepa A Taranath ◽  
Tiger Zhou ◽  
Andrew Dubowsky ◽  
...  
Keyword(s):  
Intraocular Pressure ◽  
Genome Sequencing ◽  
Anterior Segment ◽  
Congenital Glaucoma ◽  
Compound Heterozygous ◽  
Ectopia Lentis ◽  
Developmental Abnormalities ◽  
Anterior Segment Dysgenesis ◽  
Phenotypic Spectrum ◽  
Compound Heterozygous Variants

AbstractPurposeCongenital glaucoma is a significant cause of irreversible blindness. In some instances glaucoma is associated with developmental abnormalities of the ocular anterior segment, which can impair drainage of aqueous humor, leading to an increase in intraocular pressure.MethodsGenome sequencing was performed on a parent-proband congenital glaucoma trio, with exome sequencing of 79 additional individuals with suspected primary congenital glaucoma.ResultsWe describe a unique ocular anterior segment dysgenesis associated with congenital glaucoma in four individuals from three unrelated families. In each case, disease was associated with compound heterozygous variants in CPAMD8, a gene of unknown function recently associated with ocular anterior segment dysgenesis, myopia, and ectopia lentis. CPAMD8 expression was highest in neural crest-derived tissues of the adult anterior segment, suggesting that CPAMD8 variation may cause malformation of key drainage structures and the development of high intraocular pressure and glaucoma.ConclusionsThis study reveals a unique genetic cause of childhood glaucoma, and expands the phenotypic spectrum of CPAMD8-associated ocular disease.

An unusual case of bilateral pigmented maculopathy and anterior segment dysgenesis

2017 ◽  
Vol 28 (2) ◽  
pp. 253-255
Author(s):  
Edward Bloch ◽  
Maria Pefkianaki ◽  
Jamil Hakim
Keyword(s):  
Unusual Case ◽  
Systemic Disease ◽  
Gene Array ◽  
Anterior Segment ◽  
Clinical Findings ◽  
Array Analysis ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
Pigmented Lesions ◽  
Gene Array Analysis

Purpose: Pigmentary maculopathy can occur in the context of various inherited and acquired diseases. Anterior segment dysgenesis arises due to developmental anomalies and may be associated with systemic disease, as in Rieger syndrome. Case report: A 49-year-old woman presented with longstanding reduction in vision, evidence of anterior segment dysgenesis, and multiple discrete pigmented lesions throughout the macula bilaterally. Electroretinographic findings were consistent with severe macular dysfunction. Gene array analysis did not reveal any chromosomal imbalances or other specific abnormalities. Conclusions: This is a unique case of bilateral pigmentary maculopathy and anterior segment dysgenesis, with clinical findings that are not characteristic of previously reported disease.

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

Genes ◽  
2021 ◽  
Vol 12 (9) ◽  
pp. 1403
Author(s):  
Daniel A. Balikov ◽  
Adam Jacobson ◽  
Lev Prasov
Keyword(s):  
Metabolic Disorders ◽  
Anterior Segment ◽  
Treatment Strategies ◽  
Therapeutic Strategies ◽  
The Body ◽  
Anterior Segment Dysgenesis ◽  
Ocular Manifestations ◽  
Systemic Manifestations ◽  
Novel Therapeutic Strategies ◽  
Novel Therapeutic

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.

Normal and abnormal foveal development

2020 ◽  
pp. bjophthalmol-2020-316348
Author(s):  
Mervyn G Thomas ◽  
Eleni Papageorgiou ◽  
Helen J Kuht ◽  
Irene Gottlob
Keyword(s):  
Visual Acuity ◽  
Optic Nerve ◽  
Outer Nuclear Layer ◽  
Anterior Segment ◽  
Surrogate Marker ◽  
Developmental Abnormalities ◽  
Anterior Segment Dysgenesis ◽  
Retinal Layers ◽  
Retinal Dystrophies ◽  
Foveal Hypoplasia

Normal foveal development begins in utero at midgestation with centrifugal displacement of inner retinal layers (IRLs) from the location of the incipient fovea. The outer retinal changes such as increase in cone cell bodies, cone elongation and packing mainly occur after birth and continue until 13 years of age. The maturity of the fovea can be assessed invivo using optical coherence tomography, which in normal development would show a well-developed foveal pit, extrusion of IRLs, thickened outer nuclear layer and long outer segments. Developmental abnormalities of various degrees can result in foveal hypoplasia (FH). This is a characteristic feature for example in albinism, aniridia, prematurity, foveal hypoplasia with optic nerve decussation defects with or without anterior segment dysgenesis without albinism (FHONDA) and optic nerve hypoplasia. In achromatopsia, there is disruption of the outer retinal layers with atypical FH. Similarly, in retinal dystrophies, there is abnormal lamination of the IRLs sometimes with persistent IRLs. Morphology of FH provides clues to diagnoses, and grading correlates to visual acuity. The outer segment thickness is a surrogate marker for cone density and in foveal hypoplasia this correlates strongly with visual acuity. In preverbal children grading FH can help predict future visual acuity.

scholarly journals Deletions of distant regulatory sequences upstream of zebrafish pitx2 result in a range of ocular phenotypes

2019 ◽  
Author(s):  
Eric Weh ◽  
Elena Sorokina ◽  
Kathryn Hendee ◽  
Doug B. Gould ◽  
Elena V. Semina
Keyword(s):  
Anterior Segment ◽  
Genomic Region ◽  
Upstream Region ◽  
Regulatory Sequences ◽  
Coding Region ◽  
Enhancer Activity ◽  
Anterior Segment Dysgenesis ◽  
Rieger Syndrome ◽  
Nearby Region ◽  
Vertebrate Eye

ABSTRACTDevelopment of the anterior segment of the vertebrate eye is a highly coordinated process. Genetic mutations in factors guiding this process result in Anterior Segment Dysgenesis (ASD), a spectrum of disorders affecting the iris, cornea, trabecular meshwork and/or other iridocorneal angle structures and associated with glaucoma. One of the first factors linked to ASD in humans was PITX2, a homeodomain containing transcription factor with a role in Axenfeld-Rieger syndrome (ARS). In addition to pathogenic alleles within the coding region of PITX2, deletions affecting the distant upstream region, but not PITX2 itself, have also been reported in ARS. Consistent with this, the distant upstream region was shown to contain multiple conserved elements (CE) with pitx2-related enhancer activity identified through studies in zebrafish. The two smallest human deletions reported to date encompass conserved elements 5-11 (ΔCE5-11) or 5-7 (ΔCE5-7). We previously reported the generation of ΔCE5-11 in zebrafish and we have now replicated the smallest deletion, ΔCE5-7, in the same model and studied the associated phenotype, expression, and DNA methylation profiles; we also performed further phenotypic examinations of the pitx2ΔCE5-11 fish. We show that the expression changes and phenotypes observed in the two lines are variable but that the severity generally correlates with the size of the deletion and the number of affected CEs; pitx2 promoter and a nearby region were hypermethylated in the pitx2ΔCE5-7 embryonic eyes. In addition, a subset of pitx2ΔCE5-11 animals were found to have a severe retinal phenotype suggesting that additional factors may modify the effects of this allele. These data provide further insight into functional sequences in the PITX2/pitx2 genomic region that coordinate PITX2/pitx2 expression during eye development and provide the basis for future studies into PITX2/pitx2 upstream regulators and modifiers.

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