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

More general terms

• autosomal dominant cataracts

Database

• OMIM: https://mirror.omim.org/entry/60898