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Br J Ophthalmol. 2003 Apr;87(4):411-2.

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

Author information

1
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester M13 0JH, UK. robynj@chw.edu.au

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.

PMID:
12642301
PMCID:
PMC1771582
DOI:
10.1136/bjo.87.4.411
[Indexed for MEDLINE]
Free PMC Article

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