autosomal recessive congenital cataracts

Genetics

• autosomal recessive
• associated with defects in MIP
• associated with defecs in BFSP1

Clinical manifestations

• BFSP1-associated:
  • juvenile-onset
  • opacities restricted to the cortex of the lens, not involving the lens nucleus

More general terms

• familial cataracts

More specific terms

• cataract congenital autosomal recessive type 4
• cataract congenital nuclear autosomal recessive type 2
• cataract congenital nuclear autosomal recessive type 3

Database

• OMIM: https://mirror.omim.org/entry/154050
• OMIM: https://mirror.omim.org/entry/611391