1. Pulverulent cataract with variably associated microcornea and iris coloboma in a MAF mutation family
- Author
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N Farrar, F.L. Munier, Rahat Perveen, Graeme C.M. Black, Robyn V. Jamieson, and A Balmer
- Subjects
Adult ,Male ,congenital, hereditary, and neonatal diseases and abnormalities ,medicine.medical_specialty ,Adolescent ,genetic structures ,Iris ,Cataract ,Cornea ,Cellular and Molecular Neuroscience ,Cataracts ,Proto-Oncogene Proteins ,Ophthalmology ,medicine ,Humans ,Age of Onset ,Iris (anatomy) ,Family Health ,Coloboma ,business.industry ,Transcription Factor Maf ,Middle Aged ,medicine.disease ,Iris coloboma ,eye diseases ,Sensory Systems ,Pedigree ,Microcornea ,DNA-Binding Proteins ,Phenotype ,medicine.anatomical_structure ,Proto-Oncogene Proteins c-maf ,Mutation ,Female ,sense organs ,business ,Scientific Correspondence - 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. more...
- Published
- 2003
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