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autosomal dominant cataracts

Includes congenital form & juvenile-onset cataracts Genetics: 1) autosomal dominant 2) associated with defects in BFSP2 gene 3) associated with defects in PITX3 gene 4) associated with defects in CRYAA 5) associated with defects in CRYGC 6) associated with defects in CRYGD 6) may be associated with chromosomal translocation t(16;22)(p13.3;q11.2) Clinical manifestations: - juvenile-onset cataracts distinguished from congenital cataracts by the initial clarity of the lens at birth & gradual development of lens opacity in the 2nd & 3rd decades of life

Related

congenital cataracts

Specific

cataract Coppock-like congenital cerulean cataract 3 (congenital cataract blue dot type 3) congenital cerulean cataract 4 (congenital cataract blue dot type 2) congenital cerulean cataract 4 (juvenile-onset pulverulent cataracts) lamellar cataract; zonular cataract (includes Marner type cataract) polymorphic congenital cataract; cataract congenital non-nuclear polymorphic autosomal dominant

General

familial cataracts

Database Correlations

OMIM 604219

References

  1. UniProt :accession Q13515
  2. OMIM :accession 604219