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

被引：0
|
作者：
Kiryakoza, Lauren [1 ]
da Cruz, Natasha Ferreira Santos [1 ]
Hoyek, Sandra [2 ]
Berrocal, Audina M. [1 ,3 ]
机构：
[1] Univ Miami, Bascom Palmer Eye Inst, Miami, FL USA
[2] Massachusetts Eye & Ear, Boston, MA USA
[3] Bascom Palmer Eye Inst, 900 NW 17th St, Miami, FL 33136 USA
来源：
OPHTHALMIC SURGERY LASERS & IMAGING RETINA | 2024年 / 55卷 / 05期
基金：
美国国家卫生研究院;
关键词：
FAMILIAL EXUDATIVE VITREORETINOPATHY; CHOROIDAL ISCHEMIA; METAANALYSIS; MUTATION; DISEASE; ZNF408;
D O I：
10.3928/23258160-20240202-01
中图分类号：
R77 [眼科学];
学科分类号：
100212 ;
摘要：
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.
引用
收藏
页码：285 / 288
页数：4
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