gyrate atrophy of choroid and retina
GPTKB entity
Statements (22)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:affects |
retina
choroid |
| gptkbp:alsoKnownAs |
gyrate atrophy
|
| gptkbp:biochemicalFeature |
elevated plasma ornithine
|
| gptkbp:diagnosedBy |
genetic testing
ophthalmic examination |
| gptkbp:firstDescribed |
gptkb:Fuchs
1896 |
| https://www.w3.org/2000/01/rdf-schema#label |
gyrate atrophy of choroid and retina
|
| gptkbp:ICD-10_code |
H31.1
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:OAT_gene
|
| gptkbp:onset |
childhood
|
| gptkbp:prevalence |
very rare
|
| gptkbp:symptom |
night blindness
progressive vision loss peripheral vision loss |
| gptkbp:treatment |
vitamin B6 supplementation
arginine-restricted diet |
| gptkbp:bfsParent |
gptkb:Ornithine_Aminotransferase
|
| gptkbp:bfsLayer |
7
|