MCID: LBR001
MIFTS: 61

Leber Congenital Amaurosis malady

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

Aliases & Classifications for Leber Congenital Amaurosis

About this section
Sources:
32LifeMap Discovery®, 10Disease Ontology, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 36MeSH, 65UMLS, 24GTR, 47Novoseek, 59SNOMED-CT, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet
See all MalaCards sources

Aliases & Descriptions for Leber Congenital Amaurosis:

Name: Leber Congenital Amaurosis 32 10 21 45 22 23 12 51 36 65
Lca 10 21 45 22 23
Leber's Amaurosis 10 45 23
Congenital Amaurosis of Retinal Origin 23 65
Amaurosis Congenita of Leber 22 51
Congenital Retinal Blindness 45 23
Leber Amaurosis 22 24
Leber's Congenital Tapetoretinal Degeneration 45
Leber Congenital Tapetoretinal Degeneration 23
Leber's Congenital Tapetoretinal Dysplasia 45
Hereditary Epithelial Dysplasia of Retina 23
Congenital Absence of the Rods and Cones 45
Amaurosis Congenita of Leber, Type 1 65
 
Dysgenesis Neuroepithelialis Retinae 23
Leber Congenital Amaurosis Type 14 10
Leber Congenital Amaurosis Type 13 10
Optic Atrophy, Hereditary, Leber 65
Heredoretinopathia Congenitalis 23
Leber's Congenital Amaurosis 10
Amaurosis, Leber Congenital 23
Lebers Congenital Amaurosis 47
Hereditary Retinal Aplasia 23
Leber Abiotrophy 23
Leber's Disease 10
Crb 23

Characteristics:

Orphanet epidemiological data:

51
leber congenital amaurosis:
Inheritance: Autosomal dominant,Autosomal recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

Classifications:

Orphanet: 51 
Rare eye diseases


External Ids:

Disease Ontology10 DOID:14791
MeSH36 D057130
Orphanet51 65
SNOMED-CT59 193413001
UMLS via Orphanet66 C0339527
ICD10 via Orphanet28 H35.5
MESH via Orphanet37 D057130
UMLS65 C0339527, C2931258, C3540662

Summaries for Leber Congenital Amaurosis

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NIH Rare Diseases:45 Leber congenital amaurosis 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 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. at least 13 types of this condition have been described, which are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities. last updated: 7/24/2012

MalaCards based summary: Leber Congenital Amaurosis, also known as lca, is related to senior-loken syndrome-1 and leber congenital amaurosis 12, and has symptoms including visual impairment, optic atrophy and abnormality of retinal pigmentation. An important gene associated with Leber Congenital Amaurosis is LRAT (Lecithin Retinol Acyltransferase (Phosphatidylcholine--Retinol O-Acyltransferase)), and among its related pathways are the visual cycle I (vertebrates) and Vitamin A and carotenoid metabolism. Affiliated tissues include retina, eye and cerebellum, and related mouse phenotypes are pigmentation and nervous system.

Disease Ontology:10 A retinal disease that is characterized by nystagmus, sluggish or no pupillary responses, and severe vision loss or blindness.

Genetics Home Reference:23 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.

GeneReviews summary 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 77)
idRelated DiseaseScoreTop Affiliating Genes
1senior-loken syndrome-131.6CEP290, IFT140, RPGRIP1
2leber congenital amaurosis 1212.5
3leber congenital amaurosis 312.4
4leber congenital amaurosis 212.4
5leber congenital amaurosis 612.4
6leber congenital amaurosis 512.4
7leber congenital amaurosis 112.4
8leber congenital amaurosis 912.4
9leber congenital amaurosis 1112.4
10leber congenital amaurosis 1012.4
11leber congenital amaurosis 1412.4
12leber congenital amaurosis 1512.4
13leber congenital amaurosis 412.4
14leber congenital amaurosis 812.4
15leber congenital amaurosis 712.4
16leber congenital amaurosis 1612.4
17leber congenital amaurosis 1312.4
18leber congenital amaurosis 1712.3
19aipl1-related leber congenital amaurosis12.2
20gucy2d-related leber congenital amaurosis12.2
21rpe65-related leber congenital amaurosis12.2
22nmnat1-related leber congenital amaurosis12.2
23iqcb1-related leber congenital amaurosis12.1
24cep290-related leber congenital amaurosis12.1
25crb1-related leber congenital amaurosis12.1
26crx-related leber congenital amaurosis12.1
27impdh1-related leber congenital amaurosis12.1
28kcnj13-related leber congenital amaurosis12.1
29lca5-related leber congenital amaurosis12.1
30lrat-related leber congenital amaurosis12.1
31rd3-related leber congenital amaurosis12.1
32rdh12-related leber congenital amaurosis12.1
33rpgrip1-related leber congenital amaurosis12.1
34spata7-related leber congenital amaurosis12.1
35tulp1-related leber congenital amaurosis12.1
36retinitis pigmentosa 7 and digenic11.6
37leber hereditary optic neuropathy11.1
38retinitis pigmentosa11.1
39rpe65-related retinitis pigmentosa11.0AIPL1, CRX, GUCY2D, RPE65, RPGRIP1
40alk-positive large b-cell lymphoma11.0LCA5, LRAT, RPE65, SPATA7
41aipl1-related retinitis pigmentosa11.0AIPL1, CEP290, GUCY2D, RPE65
42fundus dystrophy11.0CEP290, CRB1, LCA5, SPATA7
43deficiency anemia11.0CRB1, CRX, LRAT, RPE65
44embryonal testis carcinoma11.0AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12
45keratopathy11.0AIPL1, CRB1, CRX, GUCY2D
46naegeli-franceschetti-jadassohn syndrome11.0AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1
47influenza10.9AIPL1, CRB1, CRX, GUCY2D, RD3, RPE65
48bullous skin disease10.9AIPL1, CEP290, CRB1, CRX, GUCY2D, LCA5
49andersen syndrome10.9CRB1, CRX, GUCY2D
50ichthyosis, congenital, autosomal recessive 210.9AIPL1, RPE65

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



Diseases related to leber congenital amaurosis

Symptoms for Leber Congenital Amaurosis

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Symptoms:

 51 (show all 16)
  • retinitis pigmentosa/retinal pigmentary changes
  • optic nerve anomaly/optic atrophy/anomaly of the papilla
  • visual loss/blindness/amblyopia
  • autosomal recessive inheritance
  • keratoconus/keratoglobus
  • cataract/lens opacification
  • abnormal erg/electroretinogram/electroretinography
  • nystagmus
  • encephalocele/exencephaly
  • agyria/micro/pachy/macrogyria/lissencephaly/gyration/neuronal migration defect
  • cerebellum/cerebellar vermis anomaly/agenesis/hypoplasia
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • hearing loss/hypoacusia/deafness
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Leber Congenital Amaurosis:

(show all 15)
id Description Frequency HPO Source Accession
1 visual impairment hallmark (90%) HP:0000505
2 optic atrophy hallmark (90%) HP:0000648
3 abnormality of retinal pigmentation hallmark (90%) HP:0007703
4 abnormal electroretinogram typical (50%) HP:0000512
5 cataract typical (50%) HP:0000518
6 nystagmus typical (50%) HP:0000639
7 seizures typical (50%) HP:0001250
8 muscular hypotonia typical (50%) HP:0001252
9 encephalocele typical (50%) HP:0002084
10 abnormality of neuronal migration typical (50%) HP:0002269
11 hemiplegia/hemiparesis typical (50%) HP:0004374
12 aplasia/hypoplasia of the cerebellum typical (50%) HP:0007360
13 decreased corneal thickness typical (50%) HP:0100689
14 hearing impairment occasional (7.5%) HP:0000365
15 cognitive impairment occasional (7.5%) HP:0100543

UMLS symptoms related to Leber Congenital Amaurosis:


photophobia, hepatomegaly, static tremor, ataxia

Drugs & Therapeutics for Leber Congenital Amaurosis

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Aapproved, nutraceuticalPhase 141311103-57-4, 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
(2e,4e,6e,8e)-3,7-Dimethyl-9-(2,6,6-trimethylcyclohex-1-en-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
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
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 A palmitate
Vitamin A1
Vitamin A1 alcohol
Vitamin A1 alcohol, all trans
Vitamin a
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
2Retinol palmitatePhase 1413
3retinolNutraceuticalPhase 1413
4LecithinNutraceuticalPhase 163

Interventional clinical trials:

(show all 15)
idNameStatusNCT IDPhase
1Safety and Efficacy Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00999609Phase 3
2Safety Study of RPE65 Gene Therapy to Treat Leber Congenital AmaurosisCompletedNCT00643747Phase 1, Phase 2
3Clinical Gene Therapy Protocol for the Treatment of Retinal Dystrophy Caused by Defects in RPE65CompletedNCT01496040Phase 1, Phase 2
4Phase 1/2 Safety and Efficacy Study of AAV-RPE65 Vector to Treat Leber Congenital AmaurosisActive, not recruitingNCT00749957Phase 1, Phase 2
5Phase 1 Follow-on Study of AAV2-hRPE65v2 Vector in Subjects With Leber Congenital Amaurosis (LCA) 2Active, not recruitingNCT01208389Phase 1, Phase 2
6Repeated Treatments of QLT091001 in Subjects With Leber Congenital Amaurosis or Retinitis Pigmentosa (Extension of Study RET IRD 01)CompletedNCT01521793Phase 1
7Safety/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
8Clinical Trial of Gene Therapy for Leber Congenital Amaurosis Caused by RPE65 MutationsRecruitingNCT00821340Phase 1
9Safety Study in Subjects With Leber Congenital AmaurosisActive, not recruitingNCT00516477Phase 1
10Phase I Trial of Gene Vector to Patients With Retinal Disease Due to RPE65 MutationsActive, not recruitingNCT00481546Phase 1
11Clinical Trial of Gene Therapy for the Treatment of Leber Congenital Amaurosis (LCA)Not yet recruitingNCT02781480Phase 1
12Natural History Study in Inherited Retinal Disease Subjects Caused by Mutations in RPE65 or LRATCompletedNCT02575430
13Genetic Study of Patients Suffering From Congenital Amaurosis of Leber or From an Early Severe Retinal DystrophyCompletedNCT00422721
14Natural History Study of Patients With Leber Congenital Amaurosis Associated With Mutations in RPE65RecruitingNCT02714816
15Inherited 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 Amaurosis22 TULP1

Anatomical Context for Leber Congenital Amaurosis

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MalaCards organs/tissues related to Leber Congenital Amaurosis:

33
Retina, Eye, Cerebellum, B cells, Prostate, T cells, Breast

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

Animal Models for Leber Congenital Amaurosis or affiliated genes

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MGI Mouse Phenotypes related to Leber Congenital Amaurosis:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000118610.4CEP290, CRB1, CRX, LCA5, RPE65, TULP1
2MP:000363110.0AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D
3MP:00053919.7AIPL1, CEP290, CRB1, CRX, GDF6, GUCY2D

Publications for Leber Congenital Amaurosis

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Articles related to Leber Congenital Amaurosis:

(show top 50)    (show all 279)
idTitleAuthorsYear
1
Leber Congenital Amaurosis: Genotypes and Retinal Structure Phenotypes. (26427408)
2016
2
Review and update on the molecular basis of Leber congenital amaurosis. (25685757)
2015
3
AAV8(Y733F)-mediated gene therapy in a Spata7 knockout mouse model of Leber congenital amaurosis and retinitis pigmentosa. (25965394)
2015
4
Investigation of Aberrant Splicing Induced by AIPL1 Variations as a Cause of Leber Congenital Amaurosis. (26650897)
2015
5
Nonpenetrance of the most frequent autosomal recessive leber congenital amaurosis mutation in NMNAT1. (24830548)
2014
6
Pathophysilogical mechanism and treatment strategies for Leber congenital amaurosis. (24664772)
2014
7
A Novel Mutation in the RPE65 Gene Causing Leber Congenital Amaurosis and Its Transcriptional Expression In Vitro. (25383945)
2014
8
Longitudinal clinical course of three Japanese patients with Leber congenital amaurosis/early-onset retinal dystrophy with RDH12 mutation. (24752437)
2014
9
Leber Congenital Amaurosis Caused by Mutations in RPGRIP1. (25414380)
2014
10
Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. (23341016)
2013
11
Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration. (22842230)
2012
12
Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis. (21602930)
2011
13
Mpdz null allele in an avian model of retinal degeneration and mutations in human leber congenital amaurosis and retinitis pigmentosa. (21862650)
2011
14
Long-term preservation of cones and improvement in visual function following gene therapy in a mouse model of leber congenital amaurosis caused by guanylate cyclase-1 deficiency. (21671801)
2011
15
Comprehensive SNP-chip for retinitis pigmentosa-Leber congenital amaurosis diagnosis: new mutations and detection of mutational founder effects. (19584904)
2010
16
Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions. (20006823)
2009
17
Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. (19117922)
2009
18
Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer. (18209734)
2008
19
Molecular characterization of Leber congenital amaurosis in Koreans. (18682808)
2008
20
The Leber congenital amaurosis protein AIPL1 functions as part of a chaperone heterocomplex. (18408180)
2008
21
Screening of the RPE65 gene in the Asian Indian patients with leber congenital amaurosis. (18484312)
2008
22
Early noninvasive prenatal detection of a fetal CRB1 mutation causing Leber congenital amaurosis. (18682814)
2008
23
Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. (17964524)
2007
24
Mutation screening of 299 Spanish families with retinal dystrophies by Leber congenital amaurosis genotyping microarray. (18055816)
2007
25
Mutations in LCA5, encoding the ciliary protein lebercilin, cause Leber congenital amaurosis. (17546029)
2007
26
Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. (18055821)
2007
27
Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis. (17960108)
2007
28
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. (17345604)
2007
29
Microarray-based mutation detection and phenotypic characterization of patients with Leber congenital amaurosis. (16505055)
2006
30
Canine RPGRIP1 mutation establishes cone-rod dystrophy in miniature longhaired dachshunds as a homologue of human Leber congenital amaurosis. (16806805)
2006
31
Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis. (16942444)
2006
32
Lentiviral gene transfer of RPE65 rescues survival and function of cones in a mouse model of Leber congenital amaurosis. (17032058)
2006
33
From gene to disease; Leber congenital amaurosis (LCA)]. (16261712)
2005
34
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype- phenotype correlations as a strategy for molecular diagnosis. (15024725)
2004
35
Leber congenital amaurosis linked to AIPL1: a mouse model reveals destabilization of cGMP phosphodiesterase. (15365178)
2004
36
Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. (15322982)
2004
37
Leber congenital amaurosis associated with optic disk neovascularization and vitreous hemorrhage. (12719091)
2003
38
Visual improvement in Leber congenital amaurosis and the CRX genotype. (11910559)
2002
39
Mutations in the CRB1 gene cause Leber congenital amaurosis. (11231775)
2001
40
Recurrent keratoconus in a patient with Leber congenital amaurosis. (10832707)
2000
41
A nonsense mutation in the retinal specific guanylate cyclase gene is the cause of Leber congenital amaurosis in a large inbred kindred from Jordan. (10636733)
1999
42
De novo mutations in the CRX homeobox gene associated with Leber congenital amaurosis. (9537410)
1998
43
Vision in patients with leber congenital amaurosis. (9046276)
1997
44
Leber congenital amaurosis--differential diagnosis, ophthalmological and neuroradiological report of 18 patients. (8892367)
1996
45
Leber congenital amaurosis and its association with keratoconus and keratoglobus. (8195961)
1994
46
Leber Congenital Amaurosis (20301475)
1993
47
Central nervous system involvement in Leber congenital amaurosis. (1512663)
1992
48
Linkage studies and mutation analysis of the PDEB gene in 23 families with Leber congenital amaurosis. (1338765)
1992
49
Myelination of the optic radiation in Leber congenital amaurosis. (1443398)
1992
50

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
1USH2ANM_206933.2(USH2A): c.14243C> T (p.Ser4748Phe)single nucleotide variantLikely pathogenicrs527236126GRCh38Chr 1, 215650692: 215650692
2CLUAP1NM_015041.2(CLUAP1): c.817C> T (p.Leu273Phe)single nucleotide variantPathogenicrs751218423GRCh37Chr 16, 3573261: 3573261
3CRXNM_000554.4(CRX): c.648delC (p.Ser216Argfs)deletionLikely pathogenicrs869312175GRCh38Chr 19, 47839715: 47839715
4LRATLRAT, 2-BP DEL, 217ATdeletionPathogenic
5PEX1NM_000466.2(PEX1): c.2528G> A (p.Gly843Asp)single nucleotide variantPathogenicrs61750420GRCh37Chr 7, 92130876: 92130876

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
1photoreceptor connecting ciliumGO:003239110.4CEP290, IFT140, RPGRIP1

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

idNameGO IDScoreTop Affiliating Genes
1retinol metabolic processGO:004257210.9LRAT, RPE65
2protein localization to photoreceptor outer segmentGO:190354610.9SPATA7, TULP1
3eye photoreceptor cell developmentGO:004246210.7CEP290, CRB1
4response to stimulusGO:005089610.5RD3, RDH12, RPGRIP1
5visual perceptionGO:000760110.4LRAT, RDH12, RPE65
6retinoid metabolic processGO:000152310.3RDH12, RPE65

Sources for Leber Congenital Amaurosis

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet