CRB
MCID: LBR001
MIFTS: 61

Leber Congenital Amaurosis (CRB) malady

Categories: Genetic diseases, Rare diseases, Eye diseases, Neuronal diseases

Aliases & Classifications for Leber Congenital Amaurosis

About this section
Sources:
11Disease Ontology, 13DISEASES, 23GeneReviews, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 35LifeMap Discovery®, 39MeSH, 40MESH via Orphanet, 48NIH Rare Diseases, 50Novoseek, 54Orphanet, 62SNOMED-CT, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 35 11 23 48 24 25 54 39 13 68
Lca 11 23 48 24 25 13
Leber's Amaurosis 11 48 25
Congenital Amaurosis of Retinal Origin 25 68
Amaurosis Congenita of Leber 24 54
Congenital Retinal Blindness 48 25
Amaurosis, Leber Congenital 25 27
Leber's Congenital Tapetoretinal Degeneration 48
Leber Congenital Tapetoretinal Degeneration 25
Leber's Congenital Tapetoretinal Dysplasia 48
Hereditary Epithelial Dysplasia of Retina 25
Congenital Absence of the Rods and Cones 48
 
Dysgenesis Neuroepithelialis Retinae 25
Amaurosis Congenita of Leber, Type 1 68
Optic Atrophy, Hereditary, Leber 68
Heredoretinopathia Congenitalis 25
Leber's Congenital Amaurosis 11
Lebers Congenital Amaurosis 50
Hereditary Retinal Aplasia 25
Leber Abiotrophy 25
Leber's Disease 11
Leber Amaurosis 24
Crb 25

Characteristics:

Orphanet epidemiological data:

54
leber congenital amaurosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe),1-9/100000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 54 
Rare eye diseases


External Ids:

Disease Ontology11 DOID:14791
MeSH39 D057130
Orphanet54 ORPHA65
SNOMED-CT62 193413001
MESH via Orphanet40 D057130
ICD10 via Orphanet31 H35.5
UMLS via Orphanet69 C0339527

Summaries for Leber Congenital Amaurosis

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NIH Rare Diseases:48 Leber congenital amaurosis (lca) is an eye disorder that primarily affects the retina. people with this condition typically have severe visual impairment beginning in infancy. other features include photophobia, involuntary movements of the eyes (nystagmus), and extreme farsightedness. the pupils also do not react normally to light. additionally, the cornea may be cone-shaped and abnormally thin (keratoconus). franceschetti's oculo-digital sign is characteristic of leber congenital amaurosis. this sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. different subtypes have been described. the different subtypes are caused by mutations in different genes. some of these subtypes are also distinguished by their patterns of vision loss and related eye abnormalities. treatment includes correction farsightedness and use of low-vision aids when possible. last updated: 3/27/2017

MalaCards based summary: Leber Congenital Amaurosis, also known as lca, is related to leber congenital amaurosis 9 and leber congenital amaurosis 12, and has symptoms including ataxia, static tremor and photophobia. An important gene associated with Leber Congenital Amaurosis is LCA5 (LCA5, Lebercilin), and among its related pathways are the visual cycle I (vertebrates) and Vitamin A and Carotenoid Metabolism. Affiliated tissues include retina, eye and pineal, and related mouse phenotypes are pigmentation and nervous system.

Genetics Home Reference:25 Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time.

Disease Ontology:11 A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

GeneReviews for NBK1298

Related Diseases for Leber Congenital Amaurosis

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Diseases in the Leber Congenital Amaurosis family:

Leber Congenital Amaurosis 9 Leber Congenital Amaurosis 2
Leber Congenital Amaurosis 8 Leber Congenital Amaurosis 12
Leber Congenital Amaurosis 16 Leber Congenital Amaurosis 14
Leber Congenital Amaurosis 15 Leber Congenital Amaurosis 5
Leber Congenital Amaurosis 11 Leber Congenital Amaurosis 17
Leber Congenital Amaurosis 10 Leber Congenital Amaurosis 6
Leber Congenital Amaurosis 13 Leber Congenital Amaurosis 3
Leber Congenital Amaurosis 4 Leber Congenital Amaurosis 1
Leber Congenital Amaurosis 7 Aipl1-Related Leber Congenital Amaurosis
Cep290-Related Leber Congenital Amaurosis Crb1-Related Leber Congenital Amaurosis
Crx-Related Leber Congenital Amaurosis Gucy2d-Related Leber Congenital Amaurosis
Impdh1-Related Leber Congenital Amaurosis Iqcb1-Related Leber Congenital Amaurosis
Kcnj13-Related Leber Congenital Amaurosis Lca5-Related Leber Congenital Amaurosis
Lrat-Related Leber Congenital Amaurosis Nmnat1-Related Leber Congenital Amaurosis
Rd3-Related Leber Congenital Amaurosis Rdh12-Related Leber Congenital Amaurosis
Rpe65-Related Leber Congenital Amaurosis Rpgrip1-Related Leber Congenital Amaurosis
Spata7-Related Leber Congenital Amaurosis Tulp1-Related Leber Congenital Amaurosis

Diseases related to Leber Congenital Amaurosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 85)
idRelated DiseaseScoreTop Affiliating Genes
1leber congenital amaurosis 934.3AIPL1, CRB1, CRX, GUCY2D, LCA5, NMNAT1
2leber congenital amaurosis 1212.5
3leber congenital amaurosis 1012.5
4leber congenital amaurosis 112.5
5leber congenital amaurosis 312.5
6leber congenital amaurosis 212.5
7leber congenital amaurosis 1512.4
8leber congenital amaurosis 412.4
9leber congenital amaurosis 612.4
10leber congenital amaurosis 1412.4
11leber congenital amaurosis 812.4
12leber congenital amaurosis 1112.4
13leber congenital amaurosis 512.4
14leber congenital amaurosis 712.4
15leber congenital amaurosis 1612.4
16leber congenital amaurosis 1312.4
17leber congenital amaurosis 1712.4
18aipl1-related leber congenital amaurosis12.1
19gucy2d-related leber congenital amaurosis12.1
20rpe65-related leber congenital amaurosis12.1
21nmnat1-related leber congenital amaurosis12.1
22iqcb1-related leber congenital amaurosis12.0
23kcnj13-related leber congenital amaurosis12.0
24cep290-related leber congenital amaurosis12.0
25crb1-related leber congenital amaurosis12.0
26crx-related leber congenital amaurosis12.0
27impdh1-related leber congenital amaurosis12.0
28lca5-related leber congenital amaurosis12.0
29lrat-related leber congenital amaurosis12.0
30rd3-related leber congenital amaurosis12.0
31rdh12-related leber congenital amaurosis12.0
32rpgrip1-related leber congenital amaurosis12.0
33spata7-related leber congenital amaurosis12.0
34tulp1-related leber congenital amaurosis12.0
35retinitis pigmentosa 7 and digenic11.7
36retinitis pigmentosa11.4
37senior-loken syndrome-111.2
38littoral cell angioma of the spleen11.1
39senior-loken syndrome 511.0
40nephronophthisis 1511.0
41nephronophthisis 1411.0
42nystagmus 1, congenital, x-linked11.0
43leber optic atrophy11.0
44retinitis10.7
452p13.2 microdeletion syndrome10.5LCA5, LRAT, RPE65, SPATA7
46rpl5-related diamond-blackfan anemia10.5AIPL1, CRX, GUCY2D, RPE65, RPGRIP1
47anophthalmia-esophageal atresia-genital abnormalities syndrome10.4AIPL1, CEP290, GUCY2D, RPE65
48cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia10.4CEP290, GUCY2D, RD3, RPE65
49adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency10.4AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1
50bartholin's duct cyst10.4CEP290, CRB1, GUCY2D, LCA5, SPATA7

Graphical network of the top 20 diseases related to Leber Congenital Amaurosis:



Diseases related to leber congenital amaurosis

Symptoms & Phenotypes for Leber Congenital Amaurosis

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Human phenotypes related to Leber Congenital Amaurosis:

 54 64 (show all 16)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment64 54 Occasional (29-5%) HP:0000365
2 abnormal electroretinogram64 54 Frequent (79-30%) HP:0000512
3 cataract64 54 Frequent (79-30%) HP:0000518
4 keratoconus64 54 Frequent (79-30%) HP:0000563
5 nystagmus64 54 Frequent (79-30%) HP:0000639
6 severe visual impairment64 54 Very frequent (99-80%) HP:0001141
7 intellectual disability64 54 Occasional (29-5%) HP:0001249
8 seizures64 54 Frequent (79-30%) HP:0001250
9 muscular hypotonia64 54 Frequent (79-30%) HP:0001252
10 global developmental delay64 54 Occasional (29-5%) HP:0001263
11 encephalocele64 54 Frequent (79-30%) HP:0002084
12 abnormality of neuronal migration64 54 Frequent (79-30%) HP:0002269
13 hemiplegia/hemiparesis64 54 Frequent (79-30%) HP:0004374
14 aplasia/hypoplasia of the cerebellar vermis64 54 Frequent (79-30%) HP:0006817
15 abnormality of retinal pigmentation64 54 Very frequent (99-80%) HP:0007703
16 abnormality of the optic disc64 54 Very frequent (99-80%) HP:0012795

UMLS symptoms related to Leber Congenital Amaurosis:


ataxia, static tremor, photophobia

MGI Mouse Phenotypes related to Leber Congenital Amaurosis according to GeneCards Suite gene sharing:

41
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118611.1CEP290, CRB1, CRX, LCA5, RPE65, TULP1
2MP:000363110.8AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D
3MP:000539110.1AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D

Drugs & Therapeutics for Leber Congenital Amaurosis

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Drugs for Leber Congenital Amaurosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1cysteineNutraceuticalPhase 1, Phase 2200
2
Vitamin Aapproved, nutraceutical, vet_approvedPhase 149211103-57-4, 68-26-8445354
Synonyms:
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohex-1-en-1-yl)nona-2,4,6,8-tetraen-1-ol
(2E,4E,6E,8E)-3,7-dimethyl-9-(2,6,6-trimethylcyclohexen-1-yl)nona-2,4,6,8-tetraen-1-ol
(all-E)-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
.alpha.lin
.alpha.sterol
.beta.-Retinol
11103-57-4
13123-33-6
1341-18-0
1406-67-3
17104-91-5
1rbp
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclchexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonate-traen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexenyl)-2,4,6,8-nonatetraen-1-ol
3,7-dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol, (all-E)-Isomer
4-06-00-04133 (Beilstein Handbook Reference)
53637-36-8
5979-23-7
68-26-8
95144_FLUKA
95144_SIGMA
95146_FLUKA
95146_SIGMA
A-Mulsal
A-Sol
A-Vi-Pel
A-Vitan
AC-11701
AC1L9HU3
AC1Q7BU9
ACON
ALL-TRANS RETINOL (SEE ALSO RETINOID PROJECT 1)
AR-1L3057
ATAV
Afaxin
Agiolan
Agoncal
Alcohol 9,13-dimethyl-7-(1,1,5-trimethyl-6-cyclohexen-5-yl)-7,9,11,13-nonatetraen-15-ol
Alcovit A
All Trans Retinol
All-trans retinol
All-trans-Retinol
Alphalin
Alphasterol
Anatola
Anatola A
Anti-infective vitamin
Antixerophthalmic vitamin
Antixerophthalmisches Vitamin
Aoral
Apexol
Apostavit
Aquasol A Parenteral
Aquasynth
Atars
Avibon
Avita
Avitol
Axerol
Axerophthol
Axerophtholum
BIDD:PXR0102
BRN 0403040
Bentavit A
Biosterol
C00473
C17276
C20H30O
CCRIS 5444
CHEBI:17336
CHEMBL986
CID445354
Chocola A
Cylasphere
D014801
D06543
DB00162
Del-VI-A
Disatabs Tabs
Dofsol
Dohyfral A
EINECS 200-683-7
EINECS 234-328-2
Epiteliol
HMS1921B04
HMS2092L13
HMS501I08
HSDB 815
Hi-A-Vita
Homagenets Aoral
Homagenets aorl
Hydrovit A
IDI1_000486
LMPR01090001
LPK
LS-1578
Lard Factor
M.V.C. 9+3
M.V.I.-12
 
MLS001066379
MLS001074751
MolPort-001-785-962
Mvc Plus
Myvpack
NCGC00091784-01
NCGC00091784-02
NCGC00091784-03
NCGC00091784-04
NCGC00091784-05
NCGC00091784-06
NSC 122759
NSC122759
Nio-A-Let
Oleovitamin A
Ophthalamin
Plivit A
Prepalin
R7632_SIGMA
Retin-11,12-t2-ol (9CI)
Retinol
Retinol [INN:BAN]
Retinol solution
Retinol, all-trans- (8CI)
Retinol-(cellular-retinol-binding-protein)
Retinolo
Retinolo [DCIT]
Retinolum
Retinolum [INN-Latin]
Retrovitamin A
Ro-a-vit
Rovimix A 500
SDCCGMLS-0066724.P001
SMP2_000102
SMR000112036
SPECTRUM1501203
ST057232
Sehkraft A
Solu-A
Spectrum5_000993
Spectrum5_001997
Super A
Testavol
Testavol S
Thalasphere
UNII-81G40H8B0T
UNII-G2SH0XKK91
Vaflol
Vafol
Veroftal
Vi-.alpha.
Vi-Alpha
Vi-Dom-A
Vi-a
Vio-A
Vitamin A
Vitamin A (Feed)
Vitamin A (USP)
Vitamin A alcohol
Vitamin A alcohol (VAN)
Vitamin A cryst
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin- A
Vitamin- A alcohol
Vitamin- A alcohol solution
Vitamin- A1
Vitamin-?A
Vitamin-?A alcohol
Vitamin-?A alcohol solution
Vitamin-?A1
Vitamine A
Vitaminum A
Vitavel A
Vitavel-A
Vitpex
Vogan
Vogan-Neu
Vogan-nu
WLN: L6UTJ A1 B1U1Y1&U2U1Y1&U2Q C1 C1
Wachstumsvitamin
ZINC03831417
Zinosan N
[11,12-3H]-Retinol
alin
all-trans-3,7-Dimethyl-9-(2,6,6-trimethyl-1-cyclohexen-1-yl)-2,4,6,8-nonatetraen-1-ol
all-trans-Retinol
all-trans-Retinyl alcohol
all-trans-Vitamin A
all-trans-Vitamin A alcohol
all-trans-Vitamin A1
all-trans-retinol
all-trans-retinyl alcohol
all-trans-vitamin A alcohol
b-Retinol
beta-Retinol
retinol
tROL
trans-Retinol
trans-Retinol acid (Vitamin A)
trans-Vitamin A alcohol
trans-retinol
3
acetic acidapproved, NutraceuticalPhase 111264-19-7176
Synonyms:
Acetate
Acetic acid, glacial
Aceticum acidum
Essigsäure
Ethanoat
Ethanoate
Ethanoic acid
Ethoic acid
Ethylate
 
Ethylic acid
Glacial acetate
Glacial acetic acid
HOAc
Kyselina octova
Methanecarboxylate
Methanecarboxylic acid
Vinegar
Vinegar acid
acide acétique
4Retinol palmitatePhase 1492
5Trace ElementsPhase 16001
6
Retinol acetatePhase 1107127-47-910245972
Synonyms:
13-cis-Retinyl acetate
Acetateall-trans-Retinol
Acetic acid, retinyl ester
All-trans-Retinyl acetate
All-trans-retinol acetate
All-trans-retinyl acetate
All-trans-retinylacetate
All-trans-vitamin a acetate
Crystalets
Davitan A 650
Myvak (van)
Myvax (van)
O(15)-Acetylretinol
O~15~-Acetyl-retinol
O~15~-Acetylretinol
 
RETINOL ACETATE (SEE RETINOIDPROJECTS 1 AND 3)
Retinol acetate
Retinol acetate (JP15)
Retinol, acetate
Retinol, acetate, all-trans- (8CI)
Retinol, acetate, labeled with tritium
Retinyl acetate
Trans-retinyl acetate
Trans-vitamin a acetate
Vitamin A acetate
Vitamin A1 acetate
Vitamin a acetate (tritiated)
Vitamin a acetate (van)
Vitamin a alcohol acetate
Vitamin a ester
Vitamin a, acetate
7VitaminsPhase 15282
8Protective AgentsPhase 17443
9Adjuvants, ImmunologicPhase 12554
10MicronutrientsPhase 16001
11retinolNutraceuticalPhase 1492
12LecithinNutraceuticalPhase 174

Interventional clinical trials:

(show all 18)
idNameStatusNCT IDPhase
1Safety and Efficacy Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00999609Phase 3
2Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65CompletedNCT01496040Phase 1, Phase 2
3Safety Study of RPE65 Gene Therapy to Treat Leber Congenital AmaurosisCompletedNCT00643747Phase 1, Phase 2
4Long-Term Follow-Up Gene Therapy Study for Leber Congenital Amaurosis OPTIRPE65 (Retinal Dystrophy Associated With Defects in RPE65)RecruitingNCT02946879Phase 1, Phase 2
5Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital AmaurosisActive, not recruitingNCT00749957Phase 1, Phase 2
6Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2Active, not recruitingNCT01208389Phase 1, Phase 2
7Study to Evaluate QR-110 in Subjects With Leber's Congenital Amaurosis (LCA) Due to the c.2991+1655A>G Mutation (p.Cys998X) in the CEP290 GeneNot yet recruitingNCT03140969Phase 1, Phase 2
8Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsUnknown statusNCT00821340Phase 1
9Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)CompletedNCT01521793Phase 1
10Safety/Proof of Concept Study of Oral QLT091001 in Subjects With Leber Congenital Amaurosis (LCA) or Retinitis Pigmentosa (RP) Due to Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT) MutationsCompletedNCT01014052Phase 1
11Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)RecruitingNCT02781480Phase 1
12Safety Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00516477Phase 1
13Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
14Genetic Decryption of Leber Congenital Amaurosis (LCA) in a Large Cohort of Independent Families.CompletedNCT02970266
15Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRATCompletedNCT02575430
16Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal DystrophyCompletedNCT00422721
17Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65RecruitingNCT02714816
18Inherited Retinal Degenerative Disease RegistryRecruitingNCT02435940

Search NIH Clinical Center for Leber Congenital Amaurosis


Cochrane evidence based reviews: leber congenital amaurosis

Genetic Tests for Leber Congenital Amaurosis

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Genetic tests related to Leber Congenital Amaurosis:

id Genetic test Affiliating Genes
1 Leber Congenital Amaurosis27 24 TULP1

Anatomical Context for Leber Congenital Amaurosis

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MalaCards organs/tissues related to Leber Congenital Amaurosis:

36
Retina, Eye, Pineal, Testes, Brain

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Leber Congenital Amaurosis:
id TissueAnatomical CompartmentCell Relevance
1 EyeRetinal Pigmented EpitheliumMature Retinal Pigmented Epithelium Cells Potential therapeutic candidate, affected by disease
2 EyeRetinal Pigmented EpitheliumRetinal Pigmented Epithelium Progenitor Cells Potential therapeutic candidate, affected by disease

Publications for Leber Congenital Amaurosis

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Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 297)
idTitleAuthorsYear
1
Leber congenital amaurosis, from darkness to light: An ode to Irene Maumenee. (28095138)
2017
2
Available Evidence on Leber Congenital Amaurosis and Gene Therapy. (27686653)
2017
3
CRISPR/Cas9-Mediated Genome Editing as a Therapeutic Approach for Leber Congenital Amaurosis 10. (28109959)
2017
4
Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. (28212877)
2017
5
Peripapillary sparing in RDH12-associated Leber congenital amaurosis. (28513254)
2017
6
Phenotype-genotype correlation with Sanger sequencing identified retinol dehydrogenase 12 (RDH12) compound heterozygous variants in a Chinese family with Leber congenital amaurosis. (28471114)
2017
7
Outcome Measures for Clinical Trials of Leber Congenital Amaurosis Caused by the Intronic Mutation in the CEP290 Gene. (28510626)
2017
8
Whole Exome Sequencing in Eight Thai Patients With Leber Congenital Amaurosis Reveals Mutations in the CTNNA1 and CYP4V2 Genes. (28453600)
2017
9
Results at 2 Years after Gene Therapy for RPE65-Deficient Leber Congenital Amaurosis and Severe Early-Childhood-Onset Retinal Dystrophy. (27102010)
2016
10
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis inA a large kindred. (27475985)
2016
11
Pharmacological Amelioration of Cone Survival and Vision in a Mouse Model for Leber Congenital Amaurosis. (27225770)
2016
12
A Novel Recessive RPGRIP1 Mutation Causing Leber Congenital Amaurosis. (27116508)
2016
13
Comprehensive analysis of genetic variations in strictly-defined Leber congenital amaurosis with whole-exome sequencing in Chinese. (27672588)
2016
14
Molecular genetics of Leber congenital amaurosis in Chinese: New data from 66 probands and mutation overview of 159 probands. (27375279)
2016
15
Development of an optimized AAV2/5 gene therapy vector for Leber congenital amaurosis owing to defects in RPE65. (27653967)
2016
16
Hypomorphic mutations identified in the candidate Leber congenital amaurosis gene CLUAP1. (26820066)
2016
17
CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability. (27645772)
2016
18
Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas. (27881908)
2016
19
Omics in Ophthalmology: Advances in Genomics and Precision Medicine for Leber Congenital Amaurosis and Age-Related Macular Degeneration. (27010695)
2016
20
A Mini-review: Animal Models of GUCY2D Leber Congenital Amaurosis (LCA1). (26427419)
2016
21
LEBER CONGENITAL AMAUROSIS WITH LARGE RETINAL PIGMENT CLUMPS CAUSED BY COMPOUND HETEROZYGOUS MUTATIONS IN KCNJ13. (27203561)
2016
22
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. (26427408)
2016
23
Clinical and genetic characteristics of Leber congenital amaurosis with novel mutations in known genes based on a Chinese eastern coast Han population. (27422788)
2016
24
Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused by NPHP5 mutation. (27506978)
2016
25
CrxRdy Cat: A Large Animal Model for CRX-Associated Leber Congenital Amaurosis. (27427859)
2016
26
Coat's like vasculopathy in leber congenital amaurosis secondary to homozygous mutations in CRB1: a case report and discussion of the management options. (26872607)
2016
27
Personalized models reveal mechanistic and therapeutic insights into CEP290-associated Leber congenital amaurosis. (27868047)
2016
28
Diagnostic application of an extensive gene panel for leber congenital amaurosis with severe genetic heterogeneity. (25445212)
2015
29
Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis. (26097748)
2015
30
Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families. (26147992)
2015
31
ALMS1 null mutations: a common cause of Leber congenital amaurosis and early-onset severe cone-rod dystrophy. (26010121)
2015
32
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature. (26464178)
2015
33
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. (25965394)
2015
34
A Novel KCNJ13 Nonsense Mutation and Loss of Kir7.1 Channel Function Causes Leber Congenital Amaurosis (LCA16). (25921210)
2015
35
A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing. (25988908)
2015
36
Leber congenital amaurosis: first genotyped Hungarian patients and report of 2 novel mutations in the CRB1 and CEP290 genes. (26165328)
2015
37
Review and update on the molecular basis of Leber congenital amaurosis. (25685757)
2015
38
Genetic deletion of S-opsin prevents rapid cone degeneration in a mouse model of Leber congenital amaurosis. (25416279)
2015
39
Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation. (26061163)
2015
40
The Leber Congenital Amaurosis Protein AIPL1 and EB Proteins Co-Localize at the Photoreceptor Cilium. (25799540)
2015
41
Comprehensive Molecular Diagnosis of a Large Chinese Leber Congenital Amaurosis Cohort. (26047050)
2015
42
Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis. (26650897)
2015
43
Comprehensive genotyping reveals RPE65 as the most frequently mutated gene in Leber congenital amaurosis in Denmark. (26626312)
2015
44
Full-Field Pupillary Light Responses, Luminance Thresholds, and Light Discomfort Thresholds in CEP290 Leber Congenital Amaurosis Patients. (26529047)
2015
45
Temperature-sensitive retinoid isomerase activity of RPE65 mutants associated with Leber Congenital Amaurosis. (25752820)
2015
46
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants. (26018082)
2015
47
Exudative vasculopathy in a child with Leber congenital amaurosis. (24767827)
2014
48
A novel exon 17 deletion mutation of RPGRIP1 gene in two siblings with Leber congenital amaurosis. (25096270)
2014
49
Genome-Wide Homozygosity Mapping in Families with Leber Congenital Amaurosis Identifies Mutations in AIPL1 and RDH12 Genes. (25148430)
2014
50
Advantage of Whole Exome Sequencing over Allele-specific and Targeted Segment Sequencing, in Detection of Novel TULP1 Mutation in Leber Congenital Amaurosis. (24547928)
2014

Variations for Leber Congenital Amaurosis

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Clinvar genetic disease variations for Leber Congenital Amaurosis:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CRXNM_ 000554.5(CRX): c.648delC (p.Ser216Argfs)deletionLikely pathogenicrs869312175GRCh38Chr 19, 47839715: 47839715
2PEX1NM_ 000466.2(PEX1): c.2528G> A (p.Gly843Asp)SNVPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876
3LCA5NM_ 181714.3(LCA5): c.835C> T (p.Gln279Ter)SNVPathogenicrs121918165GRCh37Chr 6, 80203353: 80203353

Expression for genes affiliated with Leber Congenital Amaurosis

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Search GEO for disease gene expression data for Leber Congenital Amaurosis.

Pathways for genes affiliated with Leber Congenital Amaurosis

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GO Terms for genes affiliated with Leber Congenital Amaurosis

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Cellular components related to Leber Congenital Amaurosis according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1axonemeGO:000593011.1IFT140, RPGRIP1, SPATA7
2ciliary basal bodyGO:003606411.1CEP290, IFT140, SPATA7
3cell projectionGO:004299511.0CEP290, IFT140, LCA5, RPGRIP1, SPATA7, TULP1
4ciliumGO:000592911.0CEP290, IFT140, LCA5, RPGRIP1, TULP1
5non-motile ciliumGO:009773010.9IFT140, RPGRIP1
6microtubule organizing centerGO:000581510.9CEP290, IFT140, IQCB1, LCA5
7photoreceptor connecting ciliumGO:003239110.8CEP290, IFT140, IQCB1, RPGRIP1, SPATA7
8photoreceptor outer segmentGO:000175010.4IFT140, IQCB1, TULP1

Biological processes related to Leber Congenital Amaurosis according to GeneCards Suite gene sharing:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1detection of light stimulus involved in visual perceptionGO:005090811.1RPE65, TULP1
2protein localization to photoreceptor outer segmentGO:190354611.1SPATA7, TULP1
3eye photoreceptor cell developmentGO:004246211.1CEP290, CRB1, RPGRIP1, TULP1
4photoreceptor cell maintenanceGO:004549411.1IQCB1, RDH12, SPATA7, TULP1
5retina homeostasisGO:000189511.0AIPL1, RPE65, TULP1
6retinoid metabolic processGO:000152311.0LRAT, RDH12, RPE65
7retinol metabolic processGO:004257211.0LRAT, RDH12, RPE65
8retina development in camera-type eyeGO:006004111.0IFT140, RD3, RPE65, RPGRIP1, TULP1
9response to stimulusGO:005089610.9AIPL1, CRX, GUCY2D, LRAT, RD3, RDH12
10vitamin A metabolic processGO:000677610.4LRAT, RPE65
11visual perceptionGO:000760110.4AIPL1, CRX, GUCY2D, LRAT, RD3, RDH12

Sources for Leber Congenital Amaurosis

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet