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

Prenat Diagn. 2007 Jul;27(7):662-4. doi: 10.1002/pd.1734.


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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Cataract / congenital*
  • Cataract / diagnosis
  • Female
  • Humans
  • Male
  • Membrane Proteins
  • Nuclear Proteins / genetics*
  • Pedigree
  • Pregnancy
  • Prenatal Diagnosis*


  • Membrane Proteins
  • NHS protein, human
  • Nuclear Proteins