rss
Br J Ophthalmol 2003;87:411-412 doi:10.1136/bjo.87.4.411
  • Scientific correspondence

Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family

  1. R V Jamieson1,2,
  2. F Munier3,
  3. A Balmer3,
  4. N Farrar1,
  5. R Perveen1,
  6. G C M Black1,4
  1. 1Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester M13 0JH, UK
  2. 2Department of Clinical Genetics and Sydney University Department of Paediatrics and Child Health, The Children's Hospital at Westmead, Sydney, NSW, 2145, Australia
  3. 3Hopital Ophtalmique Jules Gonin, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
  4. 4Academic Unit of Ophthalmology, Manchester Royal Eye Hospital, Manchester M13 9WH, UK
  1. Correspondence to: R V Jamieson; robynj{at}chw.edu.au
  • Accepted 4 September 2002

Abstract

Aims: To report the detailed clinical findings in a three generation pedigree with autosomal dominant cataract, microcornea, and coloboma resulting from mutation of the lens development gene, MAF.

Methods: Five members of a three generation pedigree with progressive cataracts underwent detailed ophthalmic examination to characterise associated ocular phenotypic features.

Results: The cataracts present in all affected individuals were cortical, and/or nuclear, pulverulent opacities. Corneal diameters of 10–10.25 mm were present in two family members. Axial lengths were in the normal range. Bilateral iris coloboma in the 6 o'clock position was present in one patient. Uveal melanoma was present in one patient, with uveal naevi in this and one other patient.

Conclusion: The bZIP transcription factor MAF is a key lens development gene that regulates the expression of the crystallins. Individuals with a mutation in MAF may have pulverulent cataract alone or cataract in association with microcornea or iris coloboma.

Footnotes

    This Article

    1. Abstract
    2. Full text
    3. PDF

    Responses

    1. Submit a response
    2. No responses published

    Register for free content

    The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

    Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.