cone dystrophy with supernormal rod responses

A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral wides

A cone dystrophy that is characterized by onset in the first or second decade of life of very marked photophobia, myopia, reduced color vision along the red-green axis with relatively preserved tritan discrimination, and central scotomata with peripheral widespread sensitivity loss predominating in the superior visual field and that has_material_basis_in homozygous or compound heterozygous mutation in the KCNV2 gene on chromosome 9p24.

Signs and symptoms

• Astigmatism
• Nyctalopia
• Photophobia
• Reduced visual acuity
• Cone/cone-rod dystrophy
• Scotoma
• Horizontal nystagmus
• Myopia
• Strabismus
• Macular atrophy

Also known as: retinal cone dystrophy 3B