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

• GARD:10649
• MESH:C563678
• OMIM:610356
• ORDO:209932

Ontology

Human Disease   ( DOID:0081022 )