ArticleKorean journal of ophthalmology : KJO2015
A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
Article in Korean journal of ophthalmology : KJO, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Axenfeld-Rieger syndrome combined with a foveal anomaly in a three-generation family: a case report.BMC ophthalmology · 2021Article
- Childhood glaucoma genes and phenotypes: Focus on FOXC1 mutations causing anterior segment dysgenesis and hearing loss.Experimental eye research · 2020Review
- Novel PITX2 Mutations including a Mutation Causing an Unusual Ophthalmic Phenotype of Axenfeld-Rieger Syndrome.Journal of ophthalmology · 2019Article
- PITX2-related Axenfeld-Rieger Syndrome with a Novel Pathogenic Variant (c.475_476delCT).Annals of laboratory medicine · 2018Article
- The Prevalence of Glaucoma in Young People.Deutsches Arzteblatt international · 2017Article
- A Chinese family with Axenfeld-Rieger syndrome: report of the clinical and genetic findings.International journal of ophthalmology · 2017Article
- Novel Genetic Findings in a Chinese Family with Axenfeld-Rieger Syndrome.Journal of ophthalmology · 2017Article
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo describe clinical findings in a Korean family with Axenfeld-Rieger syndrome.
methodsA retrospective review of clinical data about patients with diagnosed Axenfeld-Rieger syndrome. Five affected members of the family underwent a complete ophthalmologic examination. We screened the forkhead box C1 gene and the pituitary homeobox 2 gene in patients. Peripheral blood leukocytes and buccal mucosal epithelial cells were obtained from seven members of a family with Axenfeld-Rieger syndrome. DNA was extracted and amplified by polymerase chain reaction, followed by direct sequencing.
resultsThe affected members showed iris hypoplasia, iridocorneal adhesions, posterior embryotoxon, and advanced glaucoma in three generation. None had systemic anomalies. Two mutations including c.1362_1364insCGG and c.1142_1144insGGC were identified in forkhead box C1 in four affected family members.
conclusionsThis study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.
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