遺傳性白內障－家族病例報告

Hereditary Cataract-A Family Case Report

陳安平(An-Ping Chen)

《中華民國眼科醫學會雜誌》 37卷1期 (1998/03) Pp. 72-75

https://doi.org/10.30048/ACTASOS.199803.0014

摘要

遺傳性白內障可有三種遺傳方式，即自體顯性、自體隱性及性連遺傳等，其中以自體顯性遺傳最常見。
本文報告一家族之七例患者，由其族譜顯示為自體顯性遺傳，依其症狀出現早晚，又可類別為早發型與遲發型白內障，前者術後結果為弱視眼，後者則術後為正視眼，兩者預後何以不同，本文有詳細探討。另外，依染色體分析結果，提供一完善的遺傳學諮詢(Genetic Counseling)。亦是本文重點。在長達十年(1987-1996)的追蹤檢查期間，患者所呈現的多種臨床表徵將作詳細報告。

並列摘要

We studied a family in which autosomal dominant cataracts were segregating in seven members over three generations. Cytogenetic studies performed on peripheral blood showed single-gene effects on this disease. The early-onset cataract was associated with amblyopia post operatively. The late-onset cataract showed emmetropia post operatively. The former implied onset during the period of childhood. The latter implied onset during the juvenile period through adolescence. The causes of amblyopia with childhood cataract were associated with depressed development of visual function before 10 years of age, strabismus, and intolerance of the aphakic spectacles after ECCE surgery.

並列關鍵字

Autosomal dominant transmission ； Amblyopia ； Onset age Gene