지원사업
학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
커뮤니티
연구자들이 자신의 연구와 전문성을 널리 알리고, 새로운 협력의 기회를 만들 수 있는 네트워킹 공간이에요.
논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2015.1
- 수록면
- 249 - 255 (7page)
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초록· 키워드
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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.
목차
등록된 정보가 없습니다.
참고문헌 (15)
참고문헌 신청
Alward WL / 2000 / Axenfeld-Rieger syndrome in the age of molecular genetics / Am J Ophthalmol 130 : 107 ~ 115
Anderson DR / 1981 / The development of the trabecular meshwork and its abnormality in primary infantile glaucoma / Trans Am Ophthalmol Soc 79 : 458 ~ 485
Challa P / 2008 / Glaucoma genetics / Int Ophthalmol Clin 48 : 73 ~ 94
Honkanen RA / 2003 / A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene / Am J Ophthalmol 135 : 368 ~ 375
Ito YA / 2014 / Genomics and anterior segment dysgenesis:a review / Clin Experiment Ophthalmol 42 : 13 ~ 24
Anderson DR / 1981 / The development of the trabecular meshwork and its abnormality in primary infantile glaucoma / Trans Am Ophthalmol Soc 79 : 458 ~ 485
Challa P / 2008 / Glaucoma genetics / Int Ophthalmol Clin 48 : 73 ~ 94
Honkanen RA / 2003 / A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene / Am J Ophthalmol 135 : 368 ~ 375
Ito YA / 2014 / Genomics and anterior segment dysgenesis:a review / Clin Experiment Ophthalmol 42 : 13 ~ 24
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