Statements (32)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
retinal dystrophy |
| gptkbp:affects |
retina
|
| gptkbp:associatedWith |
gptkb:ABCA4
gptkb:CRX gptkb:GUCY2D gptkb:RPGR |
| gptkbp:cause |
night blindness
photophobia progressive vision loss color vision defects |
| gptkbp:diagnosedBy |
genetic testing
electroretinography |
| gptkbp:firstDescribed |
early 20th century
|
| https://www.w3.org/2000/01/rdf-schema#label |
cone-rod dystrophy
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
| gptkbp:onset |
childhood
adolescence |
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
loss of peripheral vision
decreased visual acuity difficulty seeing in bright light difficulty seeing in dim light loss of central vision |
| gptkbp:treatment |
supportive care
low vision aids |
| gptkbp:bfsParent |
gptkb:CRX_gene
gptkb:GUCY2D_gene gptkb:GUCY2D |
| gptkbp:bfsLayer |
7
|