Conditions / Genetic

cataract 1 multiple types

info · Genetic · ICD-10: Q12.0

A cataract that has_material_basis_in heterozygous mutation in the gene encoding the alpha-8 subunit of the gap junction protein (GJA8) on chromosome 1q21.

Signs and symptoms

  • Nuclear cataract
  • Pulverulent cataract
  • Posterior subcapsular cataract
  • Microcornea

Also known as: CTRCT1; Duffy linked cataract; cataract 1, multiple types, with or without microcornea