先天性視網膜脈絡膜缺損－壹病例報告

Congenital Retinochoroidal Coloboma: A Case Report

張朝凱(Chao-Kai Chang) ； 鍾欽彬(Chin-Bing Chung)

《中華民國眼科醫學會雜誌》 32卷3期 (1993/09) Pp. 364-370

https://doi.org/10.30048/ACTASOS.199309.0017

摘要

先天性視網膜脈絡膜缺損是一種罕見的自體顯性遺傳疾病，導因為胎兒時期胚胎期裂隙癒合不良所造成。
本篇報告一位三十五歲女性，因自幼左眼視力不良而來就診，被診斷為先天性視網膜脈絡膜缺損。其臨床症狀包括左眼視野縮小，且合併有虹膜缺損，眼底檢查及眼底螢光血管攝影顯示雙眼在下半球有明顯之視網膜脈絡膜缺損，矯正後之視力右眼為20/20，左眼為4/20。
由於此為一罕見病例，故特別提出來報告。

並列摘要

Retinochoroidal colobomas are rare congenital abnormalities caused by incomplete closure of the embryonic fissure. Inheritance may be autosomal dominant.
A 35-year-old female visited our OPD with the chief complaints of poor vision of left eye since childhood. After detailed ophthalmic examination, bilateral retinochoroidal colobomas with iris coloboma of left eye were diagnosed. Her visual acuity with correction was 20/20 OD and 4/20 OS. Except for the decreased visual acuity, the visual field defect was also noted in her left eye. The fundus color photograghs and FAG pictures were presented in the case, too.

並列關鍵字

Retinochoroidal Coloboma ； Closure failure of embryonic fissure