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Detection of a congenital cystic eyeball by prenatal ultrasound in a newborn with turner’s syndrome
  1. Marsha C Kavanagh,
  2. Diamond Tam,
  3. Jennifer J Diehn,
  4. Anthony Agadzi,
  5. Edward L Howes,
  6. Douglas R Fredrick
  1. Department of Ophthalmology, University of California at San Francisco, San Francisco, California, USA
  1. Correspondence to: Marsha C Kavanagh M.D., Department of Ophthalmology, University of California, San Francisco, 10 Koret Way, K302, San Francisco, CA 94143-0730, USA; mcheung26{at}

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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.

Case report

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).

Figure 1

 (A) Prenatal fetal ultrasound at 33 weeks’ gestation revealed a cystic mass in the right orbit. (B) External photograph of the patient shows …

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  • Competing interests: None.