Retinopathy With Variant of Unknown Significance and Atypical Chorioretinal Coloboma in the Setting of Prematurity.

IF 0.9 4区 医学 Q4 OPHTHALMOLOGY
Lauren Kiryakoza, Natasha Ferreira Santos da Cruz, Sandra Hoyek, Audina M Berrocal
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引用次数: 0

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.].

意义不明的变异视网膜病变和早产儿非典型脉络膜视网膜色素瘤
一名 37 周大的女孩接受了眼科检查。婴儿出生时 32 周,体重 680 克,因新生儿呼吸窘迫而接受了高流量鼻插管治疗。右眼的散瞳眼底检查发现了一个不典型的脉络膜视网膜瘤;左眼则发现了黄斑部色素沉着病变。双眼的荧光素血管造影显示视网膜血管化达到 II 区。基因检测显示,该患者的 catenin Alpha 1(CTNNA1)基因存在意义不明的杂合变异。CTNNA1 基因异常被认为是家族性渗出性玻璃体视网膜病变(FEVR)的病因。必须认识到早产儿视网膜病变和 FEVR 可能同时存在。[眼科手术激光成像视网膜2024;55:XX-XX]。
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来源期刊
CiteScore
1.80
自引率
0.00%
发文量
89
期刊介绍: OSLI Retina focuses exclusively on retinal diseases, surgery and pharmacotherapy. OSLI Retina will offer an expedited submission to publication effort of peer-reviewed clinical science and case report articles. The front of the journal offers practical clinical and practice management features and columns specific to retina specialists. In sum, readers will find important peer-reviewed retina articles and the latest findings in techniques and science, as well as informative business and practice management features in one journal.
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