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congenital cerulean cataract 4 (juvenile-onset pulverulent cataracts)
Genetics:
- autosomal dominant
- associated with defects in c-maf gene
Clinical manifestations:
- peripheral bluish & white opacifications in concentric layers with occasional central lesions arranged radially
- although opacities may be observed during fetal development & childhood, usually visual acuity is only mildly diminished until adulthood, when lens extraction is generally necessary
General
autosomal dominant cataracts
Database Correlations
OMIM 610202
References
- OMIM :accession 610202
- UniProt :accession O75444