autosomal recessive Leber congenital amaurosis
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
inherited retinal dystrophy |
| gptkbp:affects |
retina
|
| gptkbp:cause |
severe visual impairment
|
| gptkbp:firstDescribed |
1869
|
| https://www.w3.org/2000/01/rdf-schema#label |
autosomal recessive Leber congenital amaurosis
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:RPE65
gptkb:CEP290 gptkb:GUCY2D CRB1 AIPL1 IQCB1 LCA5 RDH12 TULP1 |
| gptkbp:namedAfter |
gptkb:Theodor_Leber
|
| gptkbp:OMIM |
204000
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
rare
|
| gptkbp:symptom |
nystagmus
photophobia poor pupillary response amaurotic pupils severely reduced or absent electroretinogram |
| gptkbp:treatment |
gene therapy (for RPE65 mutations)
|
| gptkbp:bfsParent |
gptkb:IMPDH1_gene
gptkb:GUCY2D |
| gptkbp:bfsLayer |
7
|