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.] .
Keyphrases
- optical coherence tomography
- diabetic retinopathy
- single cell
- optic nerve
- copy number
- genome wide
- early onset
- low birth weight
- gestational age
- preterm infants
- epithelial mesenchymal transition
- genome wide identification
- cell proliferation
- extracorporeal membrane oxygenation
- randomized controlled trial
- transcription factor
- respiratory failure
- obstructive sleep apnea
- respiratory tract
- mass spectrometry
- photodynamic therapy
- preterm birth
- study protocol
- cataract surgery