Familial Exudative Vitreoretinopathy and Retinopathy of Prematurity

An infant 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 peripheral vascularity of the retina. 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 implicatedas causes of familial exudative vitreoretinopathy (FEVR). It is important to recognize possible simultaneous retinopathy of prematurity and FEVR.

Presentation Date: 03/07/2024

Issue Date: 03/29/2024