Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family

Adi Reches, Yuval Yaron, Kathryn Burdon, Ornit Crystal-Shalit, Dvora Kidron, Mira Malcov, Ron Tepper

Research output: Contribution to journalArticlepeer-review

Abstract

Objectives: To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). Methods: The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Results: Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Conclusion: Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

Original languageEnglish
Pages (from-to)662-664
Number of pages3
JournalPrenatal Diagnosis
Volume27
Issue number7
DOIs
StatePublished - Jul 2007

Keywords

  • Congenital cataract
  • Nance-Horan syndrome
  • Prenatal diagnosis

Fingerprint

Dive into the research topics of 'Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family'. Together they form a unique fingerprint.

Cite this