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. 2003 Apr;87(4):411-2.
doi: 10.1136/bjo.87.4.411.

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

R V Jamieson  1 , F Munier, A Balmer, N Farrar, R Perveen, G C M Black
Affiliations

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

R V Jamieson et al. Br J Ophthalmol. 2003 Apr.

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.

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Figures

Figure 1
Figure 1
Pulverulent cataract in patient III-3. (A) White punctate nuclear lens opacities. (B) Scheimflug view.
Figure 2
Figure 2
Schematic representation of the MAF protein showing the functional domains and the position of the R288P (arginine to proline substitution) mutation in the basic region of the DNA binding domain. The arginine in this position of the DNA binding domain is conserved in all known large Maf proteins. EHR = extended homology region, BR = basic region.
See this image and copyright information in PMC

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