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retinal cone dystrophy 3B
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive disease cone dystrophy
External Links
- Disease Ontology
- DOID:0081022
- Mondo Disease Ontology
- MeSH
- ORDO
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q8TDN2 | Potassium voltage-gated channel subfamily V member 2 |
