Abstract：
A 37-week-old girl underwent ophthalmic examination. Born at 32 weeks, the infant weighed 680 grams and received high-flow nasal cannula for respiratory distress of the newborn. Dilated fundus examination of the right eye revealed an atypical chorioretinal coloboma; the left eye revealed hyperpigmentary changes in the macula. Fluorescein angiography of both eyes showed retinal vascularization to zone II. Genetic testing revealed a heterozygous variant of uncertain significance in the catenin Alpha 1 (CTNNA1) gene. CTNNA1 gene abnormalities have been implicated as causes of familial exudative vitreoretinopathy (FEVR). It is important to recognize possible simultaneous retinopathy of prematurity and FEVR. [Ophthalmic Surg Lasers Imaging Retina 2024;55:285-288.].
摘要：
一名37周大的女孩接受了眼科检查。出生在32周，婴儿体重680克，接受高流量鼻插管治疗新生儿呼吸窘迫。右眼眼底扩张检查显示非典型脉络膜视网膜缺损；左眼显示黄斑色素沉着过多。双眼的荧光素血管造影显示视网膜血管形成至II区。遗传检测揭示了连环蛋白α1（CTNNA1）基因中具有不确定意义的杂合变体。CTNNA1基因异常被认为是家族性渗出性玻璃体视网膜病变（FEVR）的原因。重要的是认识到可能同时发生的早产儿和FEVR视网膜病变。[眼科手术激光成像视网膜2024;55:XX-XX.].
