MCID: LKC002
MIFTS: 28

Leukocoria

Categories: Eye diseases

Aliases & Classifications for Leukocoria

MalaCards integrated aliases for Leukocoria:

Name: Leukocoria 12 30 15 74
Leucocoria 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11772
ICD9CM 36 360.44
SNOMED-CT 69 1361009
ICD10 34 H44.53
UMLS 74 C0152458

Summaries for Leukocoria

MalaCards based summary : Leukocoria, also known as leucocoria, is related to coats disease and persistent hyperplastic primary vitreous. An important gene associated with Leukocoria is ESCO2 (Establishment Of Sister Chromatid Cohesion N-Acetyltransferase 2). Affiliated tissues include eye, retina and brain, and related phenotype is pigmentation.

Wikipedia : 77 Leukocoria (also white pupillary reflex) is an abnormal white reflection from the retina of the eye.... more...

Related Diseases for Leukocoria

Graphical network of the top 20 diseases related to Leukocoria:



Diseases related to Leukocoria

Symptoms & Phenotypes for Leukocoria

MGI Mouse Phenotypes related to Leukocoria:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.8 FZD4 NDP RS1

Drugs & Therapeutics for Leukocoria

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Determination of the Sensitivity and Specificity of a Smartphone Application to Detect Retinoblastoma Recruiting NCT03016156 Not Applicable

Search NIH Clinical Center for Leukocoria

Genetic Tests for Leukocoria

Genetic tests related to Leukocoria:

# Genetic test Affiliating Genes
1 Leukocoria 30

Anatomical Context for Leukocoria

MalaCards organs/tissues related to Leukocoria:

42
Eye, Retina, Brain

Publications for Leukocoria

Articles related to Leukocoria:

(show top 50) (show all 56)
# Title Authors Year
1
Choroidal Coloboma Presenting as Leukocoria. ( 28526217 )
2017
2
A novel contiguous deletion involving NDP, MAOB and EFHC2 gene in a patient with familial Norrie disease: bilateral blindness and leucocoria without other deficits. ( 29321361 )
2017
3
Two-Year-Old Boy With Leukocoria and Strabismus. ( 26531178 )
2016
4
Leukocoria and Decreased Vision Detected During a Routine Pediatric Screening Eye Examination. ( 27415836 )
2016
5
Case 2: A three-year-old boy with photographic leukocoria. ( 26525670 )
2015
6
Toxic granulomatous anterior uveitis in live intracameral cysticercosis masquerading as leukocoria. ( 25433748 )
2014
7
Unsutured phakic implantation of a black intraocular lens in the sulcus to treat leukocoria. ( 25135551 )
2014
8
Leukocoria in a 2-year-old boy. ( 25156709 )
2014
9
Detection of leukocoria using a soft fusion of expert classifiers under non-clinical settings. ( 25204762 )
2014
10
Differentials and approach to leukocoria. ( 23589950 )
2013
11
Radiology case of the month. An infant with leukocoria: persistent fetal vasculature syndrome. Persistent fetal vasculature syndrome (PFVS) of the right eye associated with microphthalmia, bilateral optic nerve and optic chiasm hypoplasia, and absence of the neurohypophysis. ( 24015435 )
2013
12
Colorimetric and longitudinal analysis of leukocoria in recreational photographs of children with retinoblastoma. ( 24204654 )
2013
13
Leukocoria and retinoblastoma--pitfalls of the digital age? ( 22445238 )
2012
14
Leukocoria in a child with sturge-weber syndrome. ( 24028881 )
2012
15
Off-axis digital flash photography: a common cause of artefact leukocoria in children. ( 20055333 )
2011
16
Leukocoria and vitreous hemorrhage as the initial manifestation of sickle retinopathy in a 3-year, 6-month-old child with sickle trait (AS). ( 21985230 )
2011
17
A child with leukocoria. ( 22158277 )
2011
18
Leukocoria and irregular pupil. ( 20006238 )
2010
19
Question: can you identify this condition? Answer: leukocoria. ( 20154249 )
2010
20
Retinoblastoma presenting as strabismus and leukocoria. ( 20869724 )
2010
21
Uveitis presenting with decreased vision and leukocoria. ( 20971415 )
2010
22
One-and-a-half year old child with leukocoria. ( 21120057 )
2010
23
Femtosecond-assisted anterior lamellar corneal staining-tattooing in a blind eye with leukocoria. ( 19158567 )
2009
24
Leucocoria in a boy with Kawasaki disease: a diagnostic challenge. ( 19644606 )
2009
25
Unilateral leucocoria in clinically normal eyes. ( 19321484 )
2009
26
Leukocoria in children. ( 18524199 )
2008
27
Radiological reasoning: leukocoria in a child. ( 18716075 )
2008
28
Bilateral leukocoria in infant with afibrinogenemia. ( 19668740 )
2008
29
Bilateral leukocoria in a patient with homozygous protein C deficiency. ( 17603727 )
2007
30
Differential diagnosis of leukocoria and strabismus, first presenting signs of retinoblastoma. ( 19668520 )
2007
31
Leukocoria caused by intraocular heterotopic brain tissue. ( 15006859 )
2004
32
Leukocoria. ( 15064521 )
2004
33
An unusual case of leukocoria: heterotopic brain arising from the retina. ( 12523898 )
2003
34
Phakic implantation of a black intraocular lens in a blind eye with leukocoria. ( 12686259 )
2003
35
Unilateral leukocoria in off axis flash photographs of normal eyes. ( 12719083 )
2003
36
Black intraocular lens for leukocoria. ( 11292082 )
2001
37
Leucocoria as the presenting sign of a ciliary body melanoma in a child. ( 11201946 )
2001
38
Black intraocular lens for leukocoria. ( 11008059 )
2000
39
Can leucocoria be the first manifestation of protrin C deficiency? ( 10691331 )
2000
40
Utility of pupillary dilation for detecting leukocoria in patients with retinoblastoma. ( 10506269 )
1999
41
Leukocoria caused by occult penetrating trauma in a child. ( 9222249 )
1997
42
Efficacy of unanesthetized spiral computed tomography scanning in initial evaluation of childhood leukocoria. ( 9097772 )
1995
43
Reversible leukocoria associated with clinically significant diabetic macular edema. ( 7721125 )
1995
44
A 5-month-old black boy presented with leukocoria and a "glassy look" in his right eye: Coats' disease. ( 8487315 )
1993
45
Acute infantile leukocoria. ( 2185638 )
1990
46
Ocular trauma following amniocentesis as the cause of leukocoria. ( 3411423 )
1988
47
Ultrasonography in aetiological diagnosis of leucocoria. ( 3334231 )
1987
48
Leukocoria: CT diagnosis. ( 3506880 )
1986
49
A case of leucocoria caused by visceral larva migrans. ( 3491208 )
1986
50
Magnetic resonance imaging in the evaluation of leukocoria. ( 3876534 )
1985

Variations for Leukocoria

Expression for Leukocoria

Search GEO for disease gene expression data for Leukocoria.

Pathways for Leukocoria

GO Terms for Leukocoria

Biological processes related to Leukocoria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sensory perception of sound GO:0007605 9.37 FZD4 NDP
2 positive regulation of DNA-binding transcription factor activity GO:0051091 9.32 FZD4 NDP
3 cellular response to leukemia inhibitory factor GO:1990830 9.26 EFHC2 FZD4
4 canonical Wnt signaling pathway GO:0060070 9.16 FZD4 NDP
5 retina vasculature morphogenesis in camera-type eye GO:0061299 8.96 FZD4 NDP
6 extracellular matrix-cell signaling GO:0035426 8.62 FZD4 NDP

Sources for Leukocoria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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