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A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings.
Korean J Ophthalmol. 2015 Aug; 29(4):249-55.KJ

Abstract

PURPOSE

To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome.

METHODS

A 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.

RESULTS

The 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.

CONCLUSIONS

This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome.

Authors+Show Affiliations

Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.Catholic Institute for Visual Science, Department of Ophthalmology and Visual Science, Seoul St. Mary's Hospital, The Catholic University of Korea College of Medicine, Seoul, Korea.Department of Ophthalmology, The Catholic University of Korea College of Medicine, Seoul, Korea.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

26240509

Citation

Yang, Hee Jung, et al. "A Family With Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings." Korean Journal of Ophthalmology : KJO, vol. 29, no. 4, 2015, pp. 249-55.
Yang HJ, Lee YK, Joo CK, et al. A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. Korean J Ophthalmol. 2015;29(4):249-55.
Yang, H. J., Lee, Y. K., Joo, C. K., Moon, J. I., Mok, J. W., & Park, M. H. (2015). A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. Korean Journal of Ophthalmology : KJO, 29(4), 249-55. https://doi.org/10.3341/kjo.2015.29.4.249
Yang HJ, et al. A Family With Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. Korean J Ophthalmol. 2015;29(4):249-55. PubMed PMID: 26240509.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings. AU - Yang,Hee Jung, AU - Lee,You Kyung, AU - Joo,Choun-Ki, AU - Moon,Jung Il, AU - Mok,Jee Won, AU - Park,Myoung Hee, Y1 - 2015/07/21/ PY - 2014/10/03/received PY - 2014/11/25/accepted PY - 2015/8/5/entrez PY - 2015/8/5/pubmed PY - 2016/12/15/medline KW - Anterior segment dysgenesis KW - Axenfeld-Rieger syndrome KW - Forkhead box C1 gene SP - 249 EP - 55 JF - Korean journal of ophthalmology : KJO JO - Korean J Ophthalmol VL - 29 IS - 4 N2 - PURPOSE: To describe clinical findings in a Korean family with Axenfeld-Rieger syndrome. METHODS: A 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. RESULTS: The 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. CONCLUSIONS: This study may help to understand clinical findings and prognosis for patients with Axenfeld-Rieger syndrome. SN - 2092-9382 UR - https://www.unboundmedicine.com/medline/citation/26240509/A_Family_with_Axenfeld_Rieger_Syndrome:_Report_of_the_Clinical_and_Genetic_Findings_ L2 - https://ekjo.org/DOIx.php?id=10.3341/kjo.2015.29.4.249 DB - PRIME DP - Unbound Medicine ER -