KEGG   DISEASE: H00837Help
Entry
H00837                      Disease                                

Name
Leber congenital amaurosis (LCR)
Description
Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA is generally inherited in an autosomal recessive manner, and caused by mutations in more than a dozen genes. Several have been demonstrated as potentially efficacious gene therapy targets.
Category
Nervous system disease; Eye disease
BRITE hierarchy
Pathway
Purine metabolism
Retinol metabolism
Phototransduction
Gene
(LCR1) GUCY2D [HSA:3000] [KO:K12321]
(LCA2) RPE65 [HSA:6121] [KO:K11158]
(LCA3) SPATA7 [HSA:55812]
(LCA4) AIPL1 [HSA:23746] [KO:K17767]
(LCA5) LCA5 [HSA:167691]
(LCA6) RPGRIP1 [HSA:57096] [KO:K16512]
(LCA7) CRX [HSA:1406] [KO:K09337]
(LCA8) CRB1 [HSA:23418] [KO:K16681]
(LCA10) CEP290 [HSA:80184] [KO:K16533]
(LCA11) IMPDH1 [HSA:3614] [KO:K00088]
(LCA12) RD3 [HSA:343035]
(LCA13) RDH12 [HSA:145226] [KO:K11153]
(LCA14) LRAT [HSA:9227] [KO:K00678]
(LCA15) TULP1 [HSA:7287]
(LCA16) KCNJ13 [HSA:3769] [KO:K05006]
Drug
Gene therapy
Other DBs
Reference
  Authors
Weleber RG, Francis PJ, Trzupek KM
  Title
Leber Congenital Amaurosis
  Journal
(1993)
Reference
  Authors
Liu MM, Tuo J, Chan CC
  Title
Republished review: Gene therapy for ocular diseases.
  Journal
Postgrad Med J 87:487-95 (2011)
Reference
  Authors
Cideciyan AV
  Title
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
  Journal
Prog Retin Eye Res 29:398-427 (2010)

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