Leber's congenital amaurosis
GPTKB entity
Statements (34)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
retinal dystrophy |
| gptkbp:affects |
gptkb:DVD
|
| gptkbp:associatedWith |
gptkb:RPE65
gptkb:CEP290 gptkb:GUCY2D CRB1 AIPL1 RDH12 TULP1 |
| gptkbp:category |
blindness
rare disease hereditary eye disease |
| gptkbp:cause |
severe visual impairment
|
| gptkbp:diagnosedBy |
genetic testing
electroretinogram |
| gptkbp:firstDescribed |
1869
|
| https://www.w3.org/2000/01/rdf-schema#label |
Leber's congenital amaurosis
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:namedAfter |
gptkb:Theodor_Leber
|
| gptkbp:onset |
infancy
|
| gptkbp:prevalence |
2-3 per 100,000 births
|
| gptkbp:symptom |
nystagmus
hyperopia keratoconus photophobia poor pupillary response amaurotic pupils |
| gptkbp:treatment |
supportive care
gene therapy visual aids |
| gptkbp:bfsParent |
gptkb:Theodor_Leber
gptkb:Volk_Leber |
| gptkbp:bfsLayer |
7
|