Leber congenital amaurosis

GPTKB entity

Statements (44)
Predicate Object
gptkbp:instanceOf genetic disorder
rare disease
retinal dystrophy
gptkbp:affects children
retina
gptkbp:approved_gene_therapy gptkb:voretigene_neparvovec
gptkbp:category blindness
hereditary eye disease
pediatric disease
gptkbp:cause severe vision loss
gptkbp:diagnosedBy genetic testing
electroretinography
ophthalmic examination
gptkbp:firstDescribed 1869
gptkbp:frequency 2-3 per 100,000 births
gptkbp:hasOrphanetID ORPHA58
https://www.w3.org/2000/01/rdf-schema#label Leber congenital amaurosis
gptkbp:inheritance autosomal recessive
gptkbp:MeSH_ID D007882
gptkbp:mutationAssociatedWith gptkb:AIPL1_gene
gptkb:CEP290_gene
gptkb:CRB1_gene
gptkb:CRX_gene
gptkb:GUCY2D_gene
gptkb:IMPDH1_gene
gptkb:LRAT_gene
gptkb:RDH12_gene
gptkb:RPE65_gene
gptkb:TULP1_gene
gptkbp:namedAfter gptkb:Theodor_Leber
gptkbp:OMIM 204000
gptkbp:onset infancy
gptkbp:symptom nystagmus
hyperopia
amaurosis
keratoconus
ocular-digital sign
photophobia
poor pupillary response
gptkbp:treatment gene therapy
visual aids
gptkbp:bfsParent gptkb:virus
gptkb:Editas_Medicine
gptkbp:bfsLayer 5