Article
Retinal Detachment Present at Birth in an Infant With a Novel CTNNB1 Mutation.
Ophthalmic surgery, lasers & imaging retina - 1 Jul 2022
Mellen Phoebe, Baumal Caroline
Abstract excerpt
A full-term neonate was diagnosed on birth with a unilateral total retinal detachment. The contralateral eye had extensive fibrovascular proliferation, temporal dragging, and peripheral nonvascularized retina. Genetic testing confirmed a mutation in the CTNNB1 gene, which has been associated with familiar exudative vitreoretinopathy and phenotypic features including intellectual disability and spastic diplegia....
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