@article {1647893,
	title = {Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome},
	journal = {Ophthalmic Genet},
	volume = {44},
	number = {2},
	year = {2023},
	month = {2023 Apr},
	pages = {198-203},
	abstract = {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 chromosome born at 26 weeks gestational age. She was initially diagnosed with atypical ROP with a vitreous band causing a localized traction retinal detachment, inferotemporal to the macula in the right eye, vessels to posterior zone 2 with no clear ridge temporally in the left eye, and fluorescein leakage in both eyes. Due to the suspicion of concurrent FEVR, genetic testing using a vitreoretinopathy panel was performed which revealed a mosaic Turner syndrome associated with 45,X/46,X,r(X), subsequently confirmed by chromosome analysis. The deleted region in the ring X chromosome included the NDP and RS1 genes. The patient was treated with laser photocoagulation of the peripheral avascular retina and sub-Tenon{\textquoteright}s triamcinolone injection in both eyes, intravitreal injection of bevacizumab in the left eye, and pars plicata vitrectomy in the right eye. CONCLUSIONS: In premature neonates with atypical ROP, a clinical suspicion of concurrent FEVR or similar vasculopathy is important and genetic testing may elucidate a genetic etiology, which could influence management and prognosis. Turner syndrome can be connected with co-occurring Mendelian gene disorders, particularly in individuals with mosaicism. The concurrence of FEVR and ROP appears to result in atypical and possibly more severe phenotypes.},
	keywords = {Familial Exudative Vitreoretinopathies, Female, Humans, Infant, Newborn, Phenotype, Retinopathy of Prematurity, Turner Syndrome, X Chromosome},
	issn = {1744-5094},
	doi = {10.1080/13816810.2022.2098987},
	author = {Hoyek, Sandra and Wang, Marlene and Berrocal, Audina M and Wong, Ashley and Place, Emily M and Mason-Suares, Heather and Lin, Angela E and Mukai, Shizuo and Patel, Nimesh A}
}
