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cataract congenital nuclear autosomal recessive type 3
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 CRYBB1
General
autosomal recessive congenital cataracts
Database Correlations
OMIM 611544
References
OMIM :accession 611544