cone-rod dystrophy 14

info · Genetic

A cone-rod dystrophy that is characterized by deterioration of the cone in childhood or early adult life and progressive deterioration of the rod photoreceptor cells in later life that has_material_basis_in mutation in the GUCA1A gene on chromosome 6p21.1.

Signs and symptoms

Progressive visual loss
Photophobia
Reduced visual acuity
Cone/cone-rod dystrophy
Macular atrophy