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congenital cerulean cataract 4 (congenital cataract blue dot type 2)
Pathology:
- peripheral bluish & white opacifications organized in concentric layers with occasional central lesions arranged radially
- the opacities are observed in the superficial layers of the fetal nucleus as well as the adult nucleus of the lens
- involvement is usually bilateral
- histologically the lesions are described as fusiform cavities between lens fibers which contain a deeply staining granular material
Genetics:
- autosomal dominant
- associated with defects in defects in CRYBB2
Clinical manifestations:
- visual acuity is only mildly reduced in childhood
- in adulthood, the opacifications may progress, making cataract surgeru 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 601547
References
- OMIM :accession 601547
- UniProt :accession P43320