Snowflake vitreoretinal degeneration
GPTKB entity
Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
retinal disease |
| gptkbp:affects |
retina
vitreous body |
| gptkbp:associatedWith |
mutations in COL2A1 gene
|
| gptkbp:complication |
glaucoma
retinal detachment |
| gptkbp:diagnosedBy |
genetic testing
ophthalmic examination |
| gptkbp:firstDescribed |
gptkb:Wagner
|
| https://www.w3.org/2000/01/rdf-schema#label |
Snowflake vitreoretinal degeneration
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
193230
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
retinal degeneration
progressive vision loss vitreous opacities |
| gptkbp:treatment |
supportive care
surgical intervention for complications |
| gptkbp:bfsParent |
gptkb:HHBIRK1
|
| gptkbp:bfsLayer |
7
|