retinal cone dystrophy 3B (DOID:0081022)
Alliance: disease page
Synonyms: cone dystrophy with supernormal rod responses
Alt IDs: OMIM:610356, MESH:C563678, ORDO:209932
Definition: 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.