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Br J Ophthalmol 2005;89:138-141 doi:10.1136/bjo.2004.053413
  • Clinical science
    • Scientific reports

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene

  1. P K F Addison1,2,
  2. V Berry1,
  3. A C W Ionides2,
  4. P J Francis2,
  5. S S Bhattacharya1,
  6. A T Moore1,2
  1. 1Department of Molecular Genetics, Institute of Ophthalmology, London, UK
  2. 2Moorfields Eye Hospital, London, UK
  1. Correspondence to: Professor A T Moore Moorfields Eye Hospital, 162 City Road, London EC1V 2PD, UK; tony.mooreucl.ac.uk
  • Accepted 26 July 2004

Abstract

Background: The authors recently identified three large genetically unrelated families with an identical 17 base pair duplication mutation in exon 4 of the PITX3 gene. Here, they report the detailed clinical phenotype.

Methods: Affected and unaffected individuals in the three families with autosomal dominant posterior polar cataract underwent full clinical examination and donated blood samples for DNA extraction and molecular genetic studies.

Results: In all three families, an identical 17 base pair duplication mutation in PITX3 was identified which co-segregated with disease status in the family. All affected individuals had bilateral progressive posterior polar cataracts. In one family, posterior polar cataract was the only clinical abnormality but in the other two families, one of 10 affected individuals and four of 11 affected individuals also had anterior segment mesenchymal dysgenesis (ASMD).

Conclusion: Mutations in the PITX3 gene in humans result in posterior polar cataract and variable ASMD. The gene encodes a transcription factor which has a key role in lens and anterior segment development. The mechanism by which the mutant protein gives rise to such a regional pattern of lens opacity remains to be elucidated.

Footnotes

  • Competing interests: The authors have no competing interests.

  • Ethical approval: Ethics committee approval was obtained from The Moorfields Eye Hospital research ethics committee. The project number is MOOA183.

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