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Human Disease

retinal cone dystrophy 3B

Term ID
DOID:0081022
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. https://pubmed.ncbi.nlm.nih.gov/15722315/
References
Ontology
Human Disease   ( DOID:0081022 )
Relationships
is a type of
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Genes Involved
Zebrafish Models