Conditions / Genetic

cone-rod dystrophy 2

info · Genetic

A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the CRX gene on chromosome 19q13.

Signs and symptoms

Constriction of peripheral visual field
Macular hyperpigmentation
Spicular pigmentation of the retina
Color vision defect
Metamorphopsia
Reduced visual acuity
Retinal pigment epithelial atrophy
Nyctalopia
Blindness
Peripheral visual field loss

Also known as: CORD2; CRD2; RCRD2; cone-rod retinal dystrophy 2; retinal cone-rod dystrophy 2