{Reference Type}: Case Reports
{Title}: Retinopathy With Variant of Unknown Significance and Atypical Chorioretinal Coloboma in the Setting of Prematurity.
{Author}: Kiryakoza L;Cruz NFSD;Hoyek S;Berrocal AM;
{Journal}: Ophthalmic Surg Lasers Imaging Retina
{Volume}: 55
{Issue}: 5
{Year}: 2024 May 1
{Factor}: 1.296
{DOI}: 10.3928/23258160-20240202-01
{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.].