Conditions / Genetic
cone-rod dystrophy 6
info · Genetic
A cone-rod dystrophy that has_material_basis_in heterozygous mutation in the GUCY2D gene on chromosome 17p13.1.
Signs and symptoms
- Nyctalopia
- Reduced visual acuity
- Dyschromatopsia
- Chorioretinal atrophy
- Macular atrophy
- Photophobia
- Spicular pigmentation of the retina
- Hemeralopia
- Nystagmus
- Peripheral visual field loss
Also known as: CORD6; RCD2; retinal cone dystrophy 2