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

• Published in: Ophthalmic surgery, lasers & imaging retina Vol. 55; no. 5; p. 285
• Main Authors: Kiryakoza, Lauren, Cruz, Natasha Ferreira Santos da, Hoyek, Sandra, Berrocal, Audina M
• Format: Journal Article
• Language: English
• Published: United States 01-05-2024
• Subjects: Choroid - abnormalities; Coloboma - diagnosis; Coloboma - genetics; Familial Exudative Vitreoretinopathies - diagnosis; Female; Fluorescein Angiography - methods; Fundus Oculi; Gestational Age; Humans; Infant, Newborn; Infant, Premature; Retinopathy of Prematurity - diagnosis
• ISSN: 2325-8179
• DOI: 10.3928/23258160-20240202-01

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.
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