Article: article from journal or magazin.
Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family.
The British Journal of Ophthalmology
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.
Adolescent, Adult, Age of Onset, Cataract/complications, Cataract/genetics, Coloboma/complications, Coloboma/genetics, Cornea/abnormalities, DNA-Binding Proteins/genetics, Family Health, Female, Humans, Iris/abnormalities, Male, Middle Aged, Mutation/genetics, Pedigree, Phenotype, Proto-Oncogene Proteins/genetics, Proto-Oncogene Proteins c-maf
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