Term Name: | retinal cone dystrophy 3B |
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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 ) |