Department of Ophthalmology, Regional Hospital Central Jutland, Viborg, Denmark.
Br J Ophthalmol. 2012 Sep;96(9):1227-31. doi: 10.1136/bjophthalmol-2011-301462. Epub 2012 Jul 11.
A de novo mutation of the ACTA2 gene encoding the smooth muscle cell α-actin has been established in patients with multisystemic smooth muscle dysfunction syndrome associated with patent ductus arteriosus and mydriasis present at birth.
To describe the structural ocular findings in three Danish children with this new syndrome and evaluate the possible functional consequences for visual development of the poorer imaging condition.
Unresponsive mydriatic pupils with scalloping wisps of persistent pupillary membrane from the iris collarette were an early indicator of this rare genetic disorder in all three cases. Tortuousity of retinal arterioles was the main posterior pole finding, apparent during the first year of life and with a tendency to increase with age. In one case, it progressed to an aneurysmal-like state with breakdown of the blood-retinal barrier.
Congenital mydriasis is an extremely rare pupil anomaly and is the feature for the early diagnosis of this new syndrome. The ophthalmologist should act in close collaboration with other specialists owing to the risk of aortic and cerebrovascular diseases and other complications associated with this disorder.
编码平滑肌细胞α-肌动蛋白的 ACTA2 基因突变已在伴有动脉导管未闭和出生时瞳孔散大的多系统平滑肌功能障碍综合征患者中得到证实。
描述三名丹麦患儿的眼部结构异常，并评估较差的成像条件对视功能发育的潜在影响。
在所有 3 例患儿中，无反应性散瞳伴有虹膜领卷曲的持续性瞳孔膜的扇形细丝，是这种罕见遗传性疾病的早期指标。视网膜小动脉的迂曲是后极部的主要发现，在出生后的第一年就很明显，且随年龄增长有增加的趋势。在 1 例患者中，其进展为类似动脉瘤的状态，伴有血视网膜屏障的破坏。
先天性瞳孔散大是一种极其罕见的瞳孔异常，是早期诊断这种新综合征的特征。由于存在与这种疾病相关的主动脉和脑血管疾病以及其他并发症的风险，眼科医生应与其他专家密切合作。
