查詢結果分析
相關文獻
- Familial Axenfeld-Rieger Anomaly
- 認識克魯松氏症候群(Crouzon syndrome)
- Dominant-Inherited Hypokalemic Periodic Paralysis in a Large Chinese Family
- 顯性遺傳多囊性腎臟疾病
- 顯性遺傳性多囊腎病
- Marfan症候群
- Adult-Onset, Autosomal-Dominant, Limb-Girdle Myopathy with Rimmed Vacuole Formation: A Comparative Study with Limb-Girdle Muscular Dystrophy
- Autosomal Dominant Myotonia Congenita in a Taiwanese Family and Beneficial Response to Mexiletine
- An Autosomal Dominant Granular Corneal Dystrophy Family Associated with R555W Mutation in the BIGH3 Gene
- 顯性遺傳性小腦萎縮症簡介
頁籤選單縮合
題 名 | Familial Axenfeld-Rieger Anomaly=家族性Axenfeld-Rieger氏異常 |
---|---|
作 者 | 蘇娟儀; 吳國揚; | 書刊名 | 中華民國眼科醫學會雜誌 |
卷 期 | 38:4 1999.12[民88.12] |
頁 次 | 頁663-667 |
分類號 | 416.74 |
關鍵詞 | Axenfeld-Rieger氏異常; 顯性遺傳; 眼球異常; Axenfeld-Rieger anomaly; Posterior embryotoxon; Glaucoma; |
語 文 | 英文(English) |
中文摘要 | Axenfeld-Rieger氏異常是一種體顯性遺傳的眼球疾病。我們提出同一家族的四 個病例,他們都有相似的眼球異常而被診斷。第一位是34歲女性,她有明顯的兩眼Schwalbe 氏線向前移位以及周邊虹膜黏黏的情形,其餘正常。第二位是前者的妹妹,30歲,她除了 Schwalbe氏線移位以及周邊虹膜角膜黏黏,並有虹膜異常和相當高的眼壓,視神經已經萎 縮而且視力很差。第三位是病例一的兒子,16歲,他有周邊虹膜角膜黏黏,虹膜異常和高 眼壓。第四位是病例二的兒子,5歲,他有Schwalbe氏線移位,周邊虹膜角膜黏黏,虹膜 異常和高眼壓。後三位都接受了青光眼的手術以控制相當高的眼壓。此四位病例的家族史印 證了本疾病的顯性遺傳。 |
英文摘要 | We report four cases with the similar ocular abnormalities in the same family. Case 1, a 34-year-old female, had posterior embryotoxon and peripheral iris strands adherent to Schwalbe's line. She was diagnosed as "Axenfeld's anomaly". Case 3, a 16-yeaar-old male, had iris hole and peripheral iridocorneal adhesion and high intraocular pressure. Case 2, a 30-year-old female, and case 4, a 5-year-old male, both had posterior embryotoxon, peripheral iridocorneal adhesion, atrophic iris, corectopia, iris holes and raised intraocular pressure. Case 2, 3 and 4 were diagnosed as "Rieger's anomaly with glaucoma" and had received filtering surgery for the control of glaucoma. There was no extraocular developmental abnormality. The positive familial history demonstrate the autosomal dominant inheritance. |
本系統中英文摘要資訊取自各篇刊載內容。