Conditions / Genetic
cone-rod dystrophy 24
info ยท Genetic
A cone-rod dystrophy that is characterized by night blindness, defective color vision, and reduced visual acuity and that has_material_basis_in heterozygous mutation in the UNC119 gene on chromosome 17q11.
Signs and symptoms
- Macular drusen
- Pigmentary retinopathy
- Macular degeneration
- Attenuation of retinal blood vessels
- Scotoma
- Nyctalopia
- Photophobia
- Cone/cone-rod dystrophy
- Color vision defect
- Pericentral scotoma