Leber congenital amaurosis

GPTKB entity

Predicate	Object
gptkbp:instanceOf	gptkb:genetic_disorder gptkb:retinal_dystrophy gptkb:rare_disease
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
http://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	gptkb:gene_therapy visual aids
gptkbp:bfsParent	gptkb:Editas_Medicine
gptkbp:bfsLayer	5