autosomal dominant cone dystrophy
GPTKB entity
Statements (20)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
retinal disease |
| gptkbp:affects |
cones
|
| gptkbp:cause |
mutation in GUCA1A
mutation in GUCY2D |
| gptkbp:diagnosedBy |
genetic testing
electroretinography |
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal dominant cone dystrophy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
602093
|
| gptkbp:onset |
childhood
early adulthood |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
color vision deficiency
photophobia reduced visual acuity progressive vision loss |
| gptkbp:treatment |
supportive care
|
| gptkbp:bfsParent |
gptkb:GUCY2D_gene
|
| gptkbp:bfsLayer |
7
|