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congenital cerulean cataract 3 (congenital cataract blue dot type 3)
Pathology:
- fusiform cavities between lens fibers which contain a deeply staining granular material
Genetics:
- autosomal dominant
- associated with defects in CRYGD
Clinical manifestations:
- congenital cataract
- 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
- although the lesions may take on various colors, a dull blue is the most common appearance & is responsible for the designation cerulean cataract
General
autosomal dominant cataracts
Database Correlations
OMIM 60898
References
OMIM :accession 60898