Conditions / Genetic
cone-rod dystrophy 16
info · Genetic
A cone-rod dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the C8ORF37 gene on chromosome 8q22.
Signs and symptoms
- Attenuation of retinal blood vessels
- Nyctalopia
- Beaten bronze macular sheen
- Progressive visual loss
- Cataract
- Photophobia
- Reduced visual acuity
- Cone/cone-rod dystrophy
- Macular atrophy
- Optic disc pallor
Also known as: CORD16; retinal dystrophy with early macular involvement