A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings

Yang, Hee Jung; Lee, You Kyung; Joo, Choun‐Ki; Moon, Jooho; Mok, Jeewon; Park, Myoung Hee

doi:10.3341/kjo.2015.29.4.249

Cited by 10 publications

(8 citation statements)

References 10 publications

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“…The proband showed iris hypoplasia, corectopia, and peripheral anterior synechia; subject III-1 showed corectopia and peripheral anterior synechia in the right eye and iris hypoplasia, corectopia, polycoria, and peripheral anterior synechia in the left eye, even subject III-3 showed no abnormities. This is consistent with previous reports [ 16 , 17 ].…”

Section: Discussionsupporting

confidence: 94%

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

Liu

et al. 2017

Journal of Ophthalmology

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Purpose To describe a Chinese family with Axenfeld-Rieger syndrome (ARS) and report our novel genetic findings. Methods Nine members of the same family underwent complete ophthalmologic examinations and genetic analysis. Genomic DNA was isolated from veinal blood and amplifed using PCR; the products of PCR were sequenced and compared with FOXC1 and PITX2 genes, from which the mutations were found. Results Through the ophthalmologic examinations, 8 subjects were diagnosed as ARS and 1 subject was normal. A homozygous mutation c.1139_1141dupGCG(p.Gly380_Ala381insGly) and a heterozygous mutation c.1359_1361dupCGG(p.Gly456_Gln457insGly) in FOXC1 were identified in all subjects. The mutation (c.-10-30T>C) was identified in PITX2 in subjects III-1 and III-3. Conclusions We found novel gene mutations in a Chinese family with ARS, which provides us with a better understanding of the gene mutation spectrum of ARS and the assistance for the genetic counseling and gene-specific therapy in the future.

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Section: Discussionsupporting

confidence: 94%

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

Liu

et al. 2017

Journal of Ophthalmology

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“…Depending on the timing it manifests, high intraocular pressure will cause bulbar growth, corneal opacity owing to folds in Descemet's membrane (Haab's striae), and/or optic nerve and visual field damage. Secondary childhood glaucoma may also be present at birth or manifest into young adulthood; it goes hand in hand with morphological changes-such as aniridia, Axenfeld-Rieger syndrome (dysgenetic changes in the anterior chamber angle [6]), or Sturge-Weber syndrome (1).…”

mentioning

confidence: 99%

The Prevalence of Glaucoma in Young People

Marx-Gross¹,

Laubert‐Reh²,

Schneider³

et al. 2017

Deutsches Ärzteblatt International

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“…The authors detected a novel heterozygous mutation in the FOXC1 gene of the affected family members. Yang et al reported 5 ARS cases, in a three-generation family, with only ocular manifestations [ 12 ]. The authors detected two novel FOXC1 mutations, and suggested that ocular abnormalities (such posterior embryotoxon, iridocorneal adhesion, iris hypoplasia, or corectopia) and systemic abnormalities are frequently and occasionally, respectively, reported in ARS cases resulting from FOXC1 mutations; whereas, PITX2 mutations mainly cause polycoria and systemic abnormalities along with ocular defects.…”

Section: Discussionmentioning

confidence: 99%

“…The genetic test was carried out at the GENESIS Medical Genetics Center in Poland. Genomic DNA was extracted from the patient’s blood sample following standard procedures (DNA miniprep kit for blood – Axygen Scientific, Union City, CA, USA) as described elsewhere [ 12 ]. Expending genomic DNA from the obtained specimen, the coding regions and splice junctions of the supposed gene were PCR amplified and capillary sequencing is performed (the technique of genetic testing PITX2 gene was Sanger sequencing of the coding exonic and flanking intronic regions of the respective genes.)…”

Section: Case Presentationmentioning

confidence: 99%

Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

et al. 2021

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Background Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observational case series of a three-generation family with ARS and unexpected foveal anomaly. Case presentation A 33-year-old woman was admitted to an Ophthalmology Clinic in Bialystok for left eye congenital cataract surgery. The patient (proband) was diagnosed with visual deterioration, multiple defects of iris, corectopia, displacement of the Schwalbe’s line, and phenotypic characteristics of ARS. A perimetric examination indicated peripheral visual field loss and signs typical for glaucoma. Based on the phenotypic symptoms and genetic test, the patient was diagnosed with Axenfeld Rieger Syndrome. However, the optical coherence tomography of the macula showed foveal anomaly (absence of the physiological pit), which is not typically associated with this genetic disorder. The patient’s family history revealed that her two daughters were undergoing treatment for congenital glaucoma, and one of the daughters also had foveal anomaly the same as her mother. Interestingly, an examination of the patient’s mother showed typical phenotypic features of ARS such as a defect of the iris, posterior embryotoxon, and coloboma, as well as foveal anomaly. A genetic test confirmed PITX2 mutation in both, proband’s two daughters and mother. Conclusions This study highlights the occurrence of ARS with unusual ophthalmic features such as foveal anomaly (absence of the physiological pit) in a three-generation family. Although ARS is known to represent the developmental defects of the anterior segment of the eye, it is very important to perform fundus evaluation to identify associated posterior segment anomalies that may affect visual acuity. The presence of ocular defects not typically associated with ARS suggests a wide spectrum of mutations within PITX2 gene which are required to identify in order to determine genotype- phenotype correlation in ARS affected individuals.

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A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings

Cited by 10 publications

References 10 publications

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome

The Prevalence of Glaucoma in Young People

Axenfeld‐Rieger syndrome combined with a foveal anomaly in a three‐generation family: a case report

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