cataract congenital nuclear autosomal recessive type 2

Pathology

• congenital cataract affecting the central nucleus of the eye
• density of the opacities varies greatly from fine dots to a dense, white & chalk-like, central cataract
• generally bilateral
• nuclear cataracts are often combined with opacified cortical fibers encircling the nuclear opacity, which are referred to as cortical riders

Genetics

• autosomal recessive
• associated with defects in CRYBB3

More general terms

• autosomal recessive congenital cataracts

Database

• OMIM: https://mirror.omim.org/entry/609741