KEGG   DISEASE: Leber congenital amaurosis
H00837                      Disease                                
Leber congenital amaurosis
Leber congenital amaurosis with early-onset deafness (LCAEOD)
Retinitis pigmentosa [DS:H00527]
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.
Nervous system disease
Human diseases in ICD-11 classification [BR:br08403]
 09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00837  Leber congenital amaurosis
Pathway-based classification of diseases [BR:br08402]
 Cellular process
  nt06515  Regulation of kinetochore-microtubule interactions
   H00837  Leber congenital amaurosis
hsa00830  Retinol metabolism
hsa00230  Purine metabolism
hsa04390  Hippo signaling pathway
hsa04744  Phototransduction
nt06515 Regulation of kinetochore-microtubule interactions
(LCA1) GUCY2D [HSA:3000] [KO:K12321]
(LCA2) RPE65 [HSA:6121] [KO:K11158]
(LCA3) SPATA7 [HSA:55812] [KO:K19655]
(LCA4) AIPL1 [HSA:23746] [KO:K17767]
(LCA5) LCA5 [HSA:167691] [KO:K24828]
(LCA6) RPGRIP1 [HSA:57096] [KO:K16512]
(LCA7) CRX [HSA:1406] [KO:K09337]
(LCA8) CRB1 [HSA:23418] [KO:K16681]
(LCA9) NMNAT1 [HSA:64802] [KO:K06210]
(LCA10) CEP290 [HSA:80184] [KO:K16533]
(LCA11) IMPDH1 [HSA:3614] [KO:K00088]
(LCA12) RD3 [HSA:343035] [KO:K25404]
(LCA13) RDH12 [HSA:145226] [KO:K11153]
(LCA14) LRAT [HSA:9227] [KO:K00678]
(LCA15) TULP1 [HSA:7287] [KO:K19600]
(LCA16) KCNJ13 [HSA:3769] [KO:K05006]
(LCA17) GDF6 [HSA:392255] [KO:K20012]
(LCA18) PRPH2 [HSA:5961] [KO:K17343]
(LCA19) USP45 [HSA:85015] [KO:K11844]
(LCAEOD) TUBB4B [HSA:10383] [KO:K07375]
Voretigene neparvovec [DR:D11008] (biallelic RPE65 mutated)
Other DBs
ICD-11: 9B70
ICD-10: H35.5
MeSH: D057130
OMIM: 204000 204100 604232 604393 604537 613826 613829 613835 608553 611755 613837 610612 612712 613341 613843 614186 615360 608133 618513 617879
Liu MM, Tuo J, Chan CC
Republished review: Gene therapy for ocular diseases.
Postgrad Med J 87:487-95 (2011)
PMID:20301475 (LCA1-13)
Weleber RG, Francis PJ, Trzupek KM
Leber Congenital Amaurosis
GeneReviews (1993)
PMID:20399883 (LCA2)
Cideciyan AV
Leber congenital amaurosis due to RPE65 mutations and its treatment with gene therapy.
Prog Retin Eye Res 29:398-427 (2010)
PMID:22842230 (LCA9)
Koenekoop RK, Wang H, Majewski J, Wang X, Lopez I, Ren H, Chen Y, Li Y, Fishman GA, Genead M, Schwartzentruber J, Solanki N, Traboulsi EI, Cheng J, Logan CV, McKibbin M, Hayward BE, Parry DA, Johnson CA, Nageeb M, Poulter JA, Mohamed MD, Jafri H, Rashid Y, Taylor GR, Keser V, Mardon G, Xu H, Inglehearn CF, Fu Q, Toomes C, Chen R
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration.
Nat Genet 44:1035-9 (2012)
PMID:22570351 (LCA14)
Dev Borman A, Ocaka LA, Mackay DS, Ripamonti C, Henderson RH, Moradi P, Hall G, Black GC, Robson AG, Holder GE, Webster AR, Fitzke F, Stockman A, Moore AT
Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study.
Invest Ophthalmol Vis Sci 53:3927-38 (2012)
PMID:17962469 (LCA15)
Mataftsi A, Schorderet DF, Chachoua L, Boussalah M, Nouri MT, Barthelmes D, Borruat FX, Munier FL
Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.
Invest Ophthalmol Vis Sci 48:5160-7 (2007)
PMID:21763485 (LCA16)
Sergouniotis PI, Davidson AE, Mackay DS, Li Z, Yang X, Plagnol V, Moore AT, Webster AR
Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis.
Am J Hum Genet 89:183-90 (2011)
PMID:30573563 (LCA19)
Yi Z, Ouyang J, Sun W, Xiao X, Li S, Jia X, Wang P, Zhang Q
Biallelic mutations in USP45, encoding a deubiquitinating enzyme, are associated with Leber congenital amaurosis.
J Med Genet 56:325-331 (2019)
PMID:29198720 (LCAEOD)
Luscan R, Mechaussier S, Paul A, Tian G, Gerard X, Defoort-Dellhemmes S, Loundon N, Audo I, Bonnin S, LeGargasson JF, Dumont J, Goudin N, Garfa-Traore M, Bras M, Pouliet A, Bessieres B, Boddaert N, Sahel JA, Lyonnet S, Kaplan J, Cowan NJ, Rozet JM, Marlin S, Perrault I
Mutations in TUBB4B Cause a Distinctive Sensorineural Disease.
Am J Hum Genet 101:1006-1012 (2017)
PMID:23307924 (LCA17)
Asai-Coakwell M, March L, Dai XH, Duval M, Lopez I, French CR, Famulski J, De Baere E, Francis PJ, Sundaresan P, Sauve Y, Koenekoop RK, Berry FB, Allison WT, Waskiewicz AJ, Lehmann OJ
Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies.
Hum Mol Genet 22:1432-42 (2013)
PMID:23847139 (LCA18)
Wang X, Wang H, Sun V, Tuan HF, Keser V, Wang K, Ren H, Lopez I, Zaneveld JE, Siddiqui S, Bowles S, Khan A, Salvo J, Jacobson SG, Iannaccone A, Wang F, Birch D, Heckenlively JR, Fishman GA, Traboulsi EI, Li Y, Wheaton D, Koenekoop RK, Chen R
Comprehensive molecular diagnosis of 179 Leber congenital amaurosis and juvenile retinitis pigmentosa patients by targeted next generation sequencing.
J Med Genet 50:674-88 (2013)

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