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

@article{Jamieson2003PulverulentCW,
  title={Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.},
  author={R V Jamieson and Francis L. Munier and Aubin Balmer and Nicola Farrar and Rahat Perveen and Graeme C. M. Black},
  journal={The British journal of ophthalmology},
  year={2003},
  volume={87 4},
  pages={411-2}
}
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… CONTINUE READING

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Clinical and experimental advances in congenital and paediatric cataracts.

Philosophical transactions of the Royal Society of London. Series B, Biological sciences • 2011

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