Statistics from Altmetric.com
Congenital cystic eyeball was first described in 1939 as a rare ocular malformation caused by partial or complete failure of the optic vesicle to invaginate during fetal development.1 Only 35 cases have been reported. We present the clinical and histopathological findings in a newborn with Turner’s syndrome and a congenital cystic eye.
A healthy 19-year-old woman underwent amniocentesis revealing a 45XO fetal karyotype, consistent with Turner’s syndrome. She had good prenatal care, no significant illness or exposures during pregnancy, and family history was noncontributory. At 33 weeks gestation, prenatal ultrasound revealed a severely hypoplastic heart, a duplicated left kidney, and a large cystic orbital mass (fig 1A).
Competing interests: None.
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.