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Familial Axenfeld-Rieger Anomaly
家族性Axenfeld-Rieger氏異常
摘要
Aenfeld-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粘黏的情形，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粘黏，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，他有周邊虹膜角膜粘黏，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，周邊虹膜角膜粘黏，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。
關鍵字
無資料並列摘要
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.