| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
cone dystrophy with supernormal rod responses [EXACT] |
| Parent Relationships |
is_a cone dystrophy |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |