Conditions / Eye

pigmented paravenous chorioretinal atrophy

info ยท Eye

An eye disease characterized by the presence of bone corpuscle pigmentation in a paravenous distribution in the ocular fundus that has_material_basis_in heterozygous mutation in the CRB1 gene on chromosome 1q31.3.

Signs and symptoms

  • Spicular pigmentation of the retina
  • Paravenous chorioretinal atrophy
  • Hypermetropia
  • Vitreoretinopathy
  • Esotropia

Also known as: PPRCA