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Metadata
ID	DOID:0081022
Name	retinal cone dystrophy 3B
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. https://pubmed.ncbi.nlm.nih.gov/15722315/
Xrefs	GARD:10649 MESH:C563678 MIM:610356 ORDO:209932
Subsets	DO_rare_slim
Synonyms	cone dystrophy with supernormal rod responses [EXACT]
Parent Relationships	is_a cone dystrophy is_a autosomal recessive disease