autosomal dominant cataracts

Introduction

Includes congenital form & juvenile-onset cataracts

Genetics

• autosomal dominant
• associated with defects in BFSP2 gene
• associated with defects in PITX3 gene
• associated with defects in CRYAA
• associated with defects in CRYGC
• associated with defects in CRYGD
• 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

More general terms

• familial cataracts

More specific terms

• 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

Additional terms

• congenital cataracts

Database

• OMIM: https://mirror.omim.org/entry/604219