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KMID : 0213520150290040249
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Korean Journal of Ophthalmology
2015 Volume.29 No. 4 p.249 ~ p.255
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A Family with Axenfeld-Rieger Syndrome: Report of the Clinical and Genetic Findings
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Yang Hee-Jung
Lee You-Kyung
Joo Choun-Ki
Moon Jung-Il
Mok Jee-Won
Park Myoung-Hee
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Abstract
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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.
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KEYWORD
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Anterior segment dysgenesis, Axenfeld-Rieger syndrome, Forkhead box C1 gene
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