MCID: LKC002
MIFTS: 33

Leukocoria

Categories: Eye diseases, Neuronal diseases

Aliases & Classifications for Leukocoria

MalaCards integrated aliases for Leukocoria:

Name: Leukocoria 12 29 15 70
Leucocoria 12

Classifications:



External Ids:

Disease Ontology 12 DOID:11772
ICD9CM 34 360.44
SNOMED-CT 67 193288000
ICD10 32 H44.53
UMLS 70 C0152458

Summaries for Leukocoria

MalaCards based summary : Leukocoria, also known as leucocoria, is related to norrie disease and coats disease. An important gene associated with Leukocoria is CRYAA (Crystallin Alpha A), and among its related pathways/superpathways are Pathways in cancer and Regulation of FZD by ubiquitination. Affiliated tissues include retina, eye and brain, and related phenotypes are pigmentation and vision/eye

Wikipedia : 73 Leukocoria (also white pupillary reflex) is an abnormal white reflection from the retina of the eye.... more...

Related Diseases for Leukocoria

Diseases related to Leukocoria via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 85)
# Related Disease Score Top Affiliating Genes
1 norrie disease 30.7 ZNF408 TSPAN12 NDP LRP5 FZD4 EFHC2
2 coats disease 30.7 ZNF408 TSPAN12 RS1 NDP LRP5 FZD4
3 exudative vitreoretinopathy 30.6 ZNF408 TSPAN12 NDP LRP5 FZD4 ATOH7
4 strabismus 29.8 RS1 RB1 CRYAA
5 persistent hyperplastic primary vitreous 29.7 ZNF408 VSX2 TSPAN12 NDP LRP5 FZD4
6 exudative vitreoretinopathy 1 29.6 ZNF408 TSPAN12 NDP LRP5 FZD4 CRYAA
7 persistent hyperplastic primary vitreous, autosomal recessive 29.5 TSPAN12 NDP ATOH7
8 coloboma of macula 29.5 VSX2 CRYAA ATOH7
9 bilateral retinoblastoma 29.4 VSX2 RB1 LPAR6
10 vitreoretinopathy 29.4 ZNF408 TSPAN12 NDP LRP5 FZD4
11 cataract 29.0 VSX2 GCNT2 CRYBA1 CRYAA ATOH7
12 retinal detachment 29.0 ZNF408 TSPAN12 RS1 NDP LRP5 FZD4
13 microphthalmia 28.6 VSX2 NDP LRP5 GCNT2 CRYAA ATOH7
14 retinoblastoma 11.2
15 peripheral retinal degeneration 10.2 ZNF408 TSPAN12
16 cataract 44 10.2 GCNT2 CRYAA
17 congenital aphakia 10.2 VSX2 CRYAA
18 mechanical strabismus 10.2
19 cataract 32, multiple types 10.2 CRYBA1 CRYAA
20 vitreous disease 10.2 NDP FZD4 CRYAA
21 early-onset lamellar cataract 10.2 CRYBA1 CRYAA
22 scleral staphyloma 10.2 CRYBA1 CRYAA
23 retinal telangiectasia 10.2 TSPAN12 NDP FZD4
24 vitreoretinal dystrophy 10.2 RS1 CRYAA
25 retinal perforation 10.1 RS1 CRYAA
26 macular dystrophy, dominant cystoid 10.1 RS1 CRYAA
27 cataract 6, multiple types 10.1 CRYBA1 CRYAA
28 cataract 11, multiple types 10.1 CRYBA1 CRYAA
29 cataract 31, multiple types 10.1 CRYBA1 CRYAA
30 cataract 16, multiple types 10.1 CRYBA1 CRYAA
31 neovascular glaucoma 10.1 RS1 CRYAA
32 isolated microphthalmia 10.1 VSX2 LRP5
33 night blindness, congenital stationary, type 2a 10.1 CRYBA1 CRYAA
34 exudative vitreoretinopathy 2, x-linked 10.1 NDP LRP5 FZD4
35 osteoporosis-pseudoglioma syndrome 10.1 NDP LRP5 FZD4
36 posterior polar cataract 10.1 CRYBA1 CRYAA
37 lens subluxation 10.1 VSX2 CRYAA
38 uveitis 10.1
39 early-onset nuclear cataract 10.1 CRYBA1 CRYAA
40 macular holes 10.0 RS1 CRYAA
41 x-linked recessive disease 10.0 RS1 NDP CRYAA
42 x-linked monogenic disease 10.0 RS1 NDP CRYAA
43 intraocular retinoblastoma 10.0
44 toxocariasis 10.0
45 hypotrichosis 8 10.0 RB1 LPAR6
46 exudative vitreoretinopathy 3 9.9 TSPAN12 NDP LRP5 FZD4
47 exudative vitreoretinopathy 4 9.9 TSPAN12 NDP LRP5 FZD4
48 eye degenerative disease 9.9 VSX2 RS1 CRYAA
49 retinal disease 9.9 RS1 NDP CRYAA
50 gyrate atrophy of choroid and retina 9.9 VSX2 RS1

Graphical network of the top 20 diseases related to Leukocoria:



Diseases related to Leukocoria

Symptoms & Phenotypes for Leukocoria

MGI Mouse Phenotypes related to Leukocoria:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 9.5 CRYBA1 FZD4 LRP5 NDP RB1 RS1
2 vision/eye MP:0005391 9.28 ATOH7 CRYBA1 FZD4 LRP5 NDP RB1

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 Active, not recruiting NCT03016156
2 Prospective Evaluation of a Smartphone Application, GoCheckKids TM, as a Screening Tool for Leukocoria in the Infant and Pediatric Population Not yet recruiting NCT04344652

Search NIH Clinical Center for Leukocoria

Genetic Tests for Leukocoria

Genetic tests related to Leukocoria:

# Genetic test Affiliating Genes
1 Leukocoria 29

Anatomical Context for Leukocoria

MalaCards organs/tissues related to Leukocoria:

40
Retina, Eye, Brain, Ovary

Publications for Leukocoria

Articles related to Leukocoria:

(show top 50) (show all 370)
# Title Authors PMID Year
1
PREOPERATIVE ANATOMICAL FEATURES ASSOCIATED WITH IMPROVED SURGICAL OUTCOMES FOR STAGE 5 RETINOPATHY OF PREMATURITY. 61
32932381 2021
2
Diffuse infiltrative retinoblastoma with retinal detachment in "cinnamon-roll" configuration: a case report. 61
33348043 2021
3
Neuroimaging in Children with Ophthalmological Complaints: A Review. 61
33615595 2021
4
Retinoblastoma presentation, treatment and outcome in a large referral centre in Tehran: a 10-year retrospective analysis. 61
32367000 2021
5
Bilateral Persistent Hyperplastic Primary Vitreous: A Case Report and Review of the Literature. 61
33728125 2021
6
Improving parents' knowledge of early signs of paediatric eye disease: A double-blind randomized controlled trial. 61
33058401 2020
7
Atypical unilateral exudative retinal detachment in a child affected by tuberous sclerosis. 61
33325261 2020
8
Orbital Pseudocellulitis: A Retinoblastoma-Associated Masquerade Syndrome. 61
33447593 2020
9
Unilateral Leukocoria in an Infant. 61
33364117 2020
10
Clinical Outcomes and Prognostic Factors of Thai Retinoblastoma Patients. 61
33022851 2020
11
Rescue intra-arterial chemotherapy in unilateral multirelapsed peripapillary retinoblastoma: Decision making and the role of MRI. 61
32907373 2020
12
Different Types of Clinical Presentations and Stages of Retinoblastoma Among Children. 61
33133838 2020
13
Clinical spectrum and treatment outcome of retinoblastoma with Group D and E diseases: A single institution retrospective review. 61
32957352 2020
14
The Outcome of Manual Small Incision Cataract Surgery and Anterior Vitrectomy for Persistent Fetal Vasculature in an 18-Year-Old Woman: A One-Year Follow-Up. 61
33123424 2020
15
Leukocoria in a 2-Year-Old Patient With Atypical Optic Nerve Fiber Layer Myelination. 61
32816043 2020
16
Pediatric Ocular Toxocariasis in Costa Rica: 1998-2018 Experience. 61
32809906 2020
17
Ophthalmic manifestations of congenital protein C deficiency: a case report and mini review. 61
32660449 2020
18
Enucleated globes with advanced retinoblastoma: correlation of histopathological features and reclassification of tumors according to the 8th edition of the American Joint Committee on Cancer (AJCC). 61
32193778 2020
19
Atypical anterior persistent hyperplastic primary vitreous: report of a rare case. 61
32677902 2020
20
Global Retinoblastoma Presentation and Analysis by National Income Level. 61
32105305 2020
21
[Retinoblastoma]. 61
32206913 2020
22
Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases. 61
32314604 2020
23
Coats' disease: characteristics, management, outcome, and scleral external drainage with anterior chamber maintainer for stage 3b disease. 61
32311932 2020
24
The Approach to the Newborn With Bilateral Leukocoria. 61
32203587 2020
25
Intraocular foreign body and traumatic cataract removal 65 years after penetrating trauma. 61
31973552 2020
26
Ocular Emergencies in Children: Demographics, Origin, Symptoms, and Most Frequent Diagnoses. 61
33083049 2020
27
Role of ultrasonography in childhood eye diseases in a tertiary care setting: indications and scope. 61
31530105 2020
28
CAT SCRATCH DISEASE IMITATING A TOXOCARA GRANULOMA OF THE OPTIC DISK. 61
29176527 2020
29
Retinoblastoma Presentation and Survival: A four-year analysis from a tertiary care hospital. 61
31933609 2020
30
HAND-HELD OPTICAL COHERENCE TOMOGRAPHY MONITORING OF CHEMORESISTANT RETINOBLASTOMA. 61
29443806 2020
31
Bilateral primary hyperplastic persistent vitreous: report of two cases. 61
33214982 2020
32
Accuracy of preoperative imaging in predicting optic nerve invasion in retinoblastoma: A retrospective study. 61
31755442 2019
33
[Role of CT in diagnosis and monitoring of retinoblastoma in Senegal]. 61
31561918 2019
34
RETINAL NEURONAL ECTOPIA: A NEW ENTITY IN THE DIFFERENTIAL DIAGNOSIS OF RETINOBLASTOMA. 61
31800504 2019
35
Can the Red Reflex Test Detect Unequal Refractive Error? 61
31378518 2019
36
[WAGR syndrome by heterozygous deletion of the WT1 gene. Pediatric case report]. 61
31560501 2019
37
Retinoblastoma in children: a case series from Senegal. 61
31772735 2019
38
Autonomous early detection of eye disease in childhood photographs. 61
31616792 2019
39
Neonatal retinoblastoma: A study of five cases. 61
31902989 2019
40
Bilateral advanced (group D or E) intraocular retinoblastoma: outcomes in 72 Asian Indian patients. 61
30932036 2019
41
Retinoblastoma in older patients: A retrospective comparative analysis of 100 consecutive patients based on age. 61
31686965 2019
42
Evaluation of a Free Public Smartphone Application to Detect Leukocoria in High-Risk Children Aged 1 to 6 Years. 61
31322712 2019
43
Intraocular medulloepithelioma - A review of clinical features, DICER 1 mutation, and management. 61
31124483 2019
44
Retinoblastoma awareness among first contact physicians in Jordan. 61
31134839 2019
45
Smartphone-based application improves the detection of retinoblastoma. 61
30635644 2019
46
An Eight-Year-Old Girl Presents With Two Weeks of Vision Loss and Nightly Headaches. 61
31100163 2019
47
Clinicopathologic presentation of malignant orbito-ocular tumors in Kano, Nigeria: A prospective multicenter study. 61
31070150 2019
48
Persistent fetal vasculature presenting with axial elongation and platyphakia. 61
30176292 2019
49
RETINOBLASTOMA IN INDIA: Clinical Presentation and Outcome in 1,457 Patients (2,074 Eyes). 61
29210937 2019
50
Concomitant Intraocular Retinoblastoma and Choroidal Hemangioma in a 1-Year-Old Boy. 61
28984344 2019

Variations for Leukocoria

Expression for Leukocoria

Search GEO for disease gene expression data for Leukocoria.

Pathways for Leukocoria

Pathways related to Leukocoria according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 12.18 RB1 LRP5 LPAR6 FZD4
2
Show member pathways
10.45 LRP5 FZD4
3 10.07 LRP5 FZD4

GO Terms for Leukocoria

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.85 VSX2 RS1 LRP5 GCNT2 FZD4 ATOH7
2 response to stimulus GO:0050896 9.81 VSX2 RS1 NDP CRYAA
3 neuron differentiation GO:0030182 9.67 RB1 FZD4 ATOH7
4 Wnt signaling pathway GO:0016055 9.62 TSPAN12 NDP LRP5 FZD4
5 positive regulation of DNA-binding transcription factor activity GO:0051091 9.58 NDP LRP5 FZD4
6 visual perception GO:0007601 9.55 VSX2 RS1 NDP CRYBA1 CRYAA
7 negative regulation of protein serine/threonine kinase activity GO:0071901 9.48 RB1 LRP5
8 retina layer formation GO:0010842 9.46 TSPAN12 RS1
9 negative regulation of cell-substrate adhesion GO:0010812 9.43 GCNT2 FZD4
10 retinal blood vessel morphogenesis GO:0061304 9.26 LRP5 FZD4
11 retina vasculature morphogenesis in camera-type eye GO:0061299 9.13 NDP LRP5 FZD4
12 extracellular matrix-cell signaling GO:0035426 8.8 NDP LRP5 FZD4

Molecular functions related to Leukocoria according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Wnt-protein binding GO:0017147 9.16 LRP5 FZD4
2 structural constituent of eye lens GO:0005212 8.96 CRYBA1 CRYAA
3 Wnt-activated receptor activity GO:0042813 8.8 TSPAN12 LRP5 FZD4

Sources for Leukocoria

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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