Term Name: retinal cone dystrophy 3B
Synonyms: cone dystrophy with supernormal rod responses
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.
Ontology: Human Disease [DOID:0081022]   ( DOID:0081022 )

Relationships
is a type of: autosomal recessive disease cone dystrophy