Leber congenital amaurosis subtype
GPTKB entity
Statements (43)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
medical condition subtype
|
| gptkbp:affects |
retina
|
| gptkbp:causedBy |
genetic disorder
|
| gptkbp:containsGene |
gptkb:KCNJ13
gptkb:RPE65 gptkb:CEP290 gptkb:CRX gptkb:GUCY2D gptkb:IMPDH1 OTX2 CRB1 AIPL1 BEST1 CABP4 CLRN1 CRB2 DTHD1 GUCA1A GUCA1B IQCB1 LCA5 LRAT NMNAT1 PRPH2 RD3 RDH12 RDH5 RPGRIP1 SPATA7 TULP1 |
| gptkbp:diagnosedBy |
genetic testing
electroretinography |
| https://www.w3.org/2000/01/rdf-schema#label |
Leber congenital amaurosis subtype
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:subspecies |
gptkb:Leber_congenital_amaurosis
|
| gptkbp:symptom |
nystagmus
vision loss photophobia abnormal pupillary reflex |
| gptkbp:treatment |
gene therapy
low vision aids |
| gptkbp:bfsParent |
gptkb:Leber_congenital_amaurosis_10
|
| gptkbp:bfsLayer |
7
|