Article
Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.
Ophthalmic genetics - 1 Apr 2023
Hoyek Sandra, Wang Marlene, Berrocal Audina M, Wong Ashley, Place Emily M, Mason-Suares Heather, Lin Angela E, Mukai Shizuo, Patel Nimesh A
Abstract excerpt
BACKGROUND: Retinopathy of prematurity (ROP) and familial exudative vitreoretinopathy (FEVR) are two distinct pathologies of retinal angiogenesis with overlapping clinical features. METHODS: Examination, multimodal imaging, and genetic testing were used to guide diagnosis and treatment. RESULTS: We report a combined phenotype of X-linked FEVR and ROP in a 4-month-old girl with mosaic Turner syndrome with ring X...
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