Conditions / Genetic

cone-rod dystrophy 19

info · Genetic

A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the TTLL5 gene on chromosome 14q24.

Signs and symptoms

  • Reduced visual acuity
  • Undetectable pattern electroretinogram
  • Perifoveal ring of hyperautofluorescence
  • Cone/cone-rod dystrophy
  • High myopia

Also known as: CORD19