Transabdominal Fetal Ultrasound Before Early-Term Planned Delivery for Norrie Disease

Grant A. Justin, Brita K. Boyd, Lejla Vajzovic*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Purpose: To describe a case of early-term planned delivery of a fetus with Norrie disease. Methods: A retrospective chart review was performed. Results: A fetus with an older sibling with bilateral blindness from Norrie disease had positive NPD genetic testing on chorionic villus sampling. Transabdominal fetal ophthalmic ultrasound found bilateral total retinal detachments (RDs) at 32 weeks gestational age. The fetus was delivered at 37 weeks and had an examination under anesthesia, which showed bilateral inoperable RDs. Conclusions: Transabdominal fetal ophthalmic ultrasound was able to identity bilateral total RDs in utero. Further study is warranted on preterm or early-term delivery if a fetus has evidence of RD in utero.

Original languageEnglish
Pages (from-to)91-92
Number of pages2
JournalJournal of VitreoRetinal Diseases
Issue number1
StatePublished - 1 Jan 2024
Externally publishedYes


  • Norrie disease
  • fluorescein angiography
  • genetics
  • preterm delivery
  • ultrasound


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