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Retinopathy With Variant of Unknown Significance and Atypical Chorioretinal Coloboma in the Setting of Prematurity.
Ophthalmic Surg Lasers Imaging Retina ; 55(5): 285-288, 2024 May.
Article em En | MEDLINE | ID: mdl-38408227
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;55285-288.].
Assuntos

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Retinopatia da Prematuridade / Angiofluoresceinografia / Coloboma / Corioide Limite: Female / Humans / Newborn Idioma: En Revista: Ophthalmic Surg Lasers Imaging Retina Ano de publicação: 2024 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Temas: Geral Base de dados: MEDLINE Assunto principal: Retinopatia da Prematuridade / Angiofluoresceinografia / Coloboma / Corioide Limite: Female / Humans / Newborn Idioma: En Revista: Ophthalmic Surg Lasers Imaging Retina Ano de publicação: 2024 Tipo de documento: Article