Combined X-linked familial exudative vitreoretinopathy and retinopathy of prematurity phenotype in an infant with mosaic turner syndrome with ring X chromosome.

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'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.

Síndrome de Turner con mosaicismo 45,X/46Xdel(X)(q21): Comunicación de un caso / Turner's syndrome 45,X/46Xdel(X)(q21): A case report

El síndrome de Turner fue descrito por Otto Ullrich en 1930 y por Henry Turner en 1938. Se estima que 1 de 2000 a 3000 niñas recién nacidas, y 1% de las concepciones de embriones y fetos femeninos portan esta patología, llegándose a abortar espontáneamente, en el primer trimestre, entre el 95% y el 99% de los fetos afectados. El caso que se presenta corresponde a una adolescente, nacida en 1995, que consultó por amenorrea primaria, con cariotipo 45,X[6]/46Xdel(X)(q21)[14]. Dado el resultado observado, se estudió a la madre, quien había experimentado una insuficiencia ovárica prematura y cuyo cariotipo era 46Xdel(X)(q21) [3]/ 46,XX[35].

Turner's syndrome was described by Otto Ullrich (1930) and Henry Turner (1938). An estimated 1 from 2,000 to 3,000 female babies and 1% of the conceptions of female embryos and fetuses have this condition, and 95 to 99% of them result in miscarriage during the first trimester. The case presented concerns a 15 y/o girl who consulted due to primary amenorrhea. The karyotype was 45,X[6]/46Xdel(X)(q21)[14]. Her mother had experienced premature ovarian failure and her karyotype was: 46Xdel(X)(q21)[3]/46,XX[35].