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


CONCLUSIONS
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.
Jamieson
R V
RV
Academic Unit of Medical Genetics and Regional Genetic Service, St Mary's Hospital, Manchester M13 0JH, UK. robynj@chw.edu.au
Munier
F
F
Balmer
A
A
Farrar
N
N
Perveen
R
R
Black
G C M
GC
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002386:Cataract / Q000150:complications / Q000235:genetics*; D003103:Coloboma / Q000150:complications / Q000235:genetics*; D003315:Cornea / Q000002:abnormalities*; D004268:DNA-Binding Proteins / Q000235:genetics; D005192:Family Health; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities*; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051257:Proto-Oncogene Proteins c-maf
D004268:DNA-Binding Proteins; C495607:MAF protein, human; D011518:Proto-Oncogene Proteins; D051257:Proto-Oncogene Proteins c-maf