MCID: RTN123
MIFTS: 20

Retinochoroidal Coloboma

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Retinochoroidal Coloboma

MalaCards integrated aliases for Retinochoroidal Coloboma:

Name: Retinochoroidal Coloboma 54
Retinal Coloboma 54 30 6
Coloboma of Choroid and Retina 54
Choroidal Coloboma 54

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Retinochoroidal Coloboma

NIH Rare Diseases : 54 Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment may occur at any age. Other possible complications include loss of visual clarity or distorted vision; cataract; and abnormal blood vessel growth in the choroid (choroidal neovascularization). Retinochoroidal coloboma can involve one or both eyes, and may occur alone or in association with other birth defects. It can be inherited or can occur sporadically.

MalaCards based summary : Retinochoroidal Coloboma, also known as retinal coloboma, is related to thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness and aortic arch interruption, facial palsy, and retinal coloboma. An important gene associated with Retinochoroidal Coloboma is CHD7 (Chromodomain Helicase DNA Binding Protein 7). Affiliated tissues include retina, eye and endothelial.

Related Diseases for Retinochoroidal Coloboma

Graphical network of the top 20 diseases related to Retinochoroidal Coloboma:



Diseases related to Retinochoroidal Coloboma

Symptoms & Phenotypes for Retinochoroidal Coloboma

Drugs & Therapeutics for Retinochoroidal Coloboma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Retinochoroidal Coloboma

Genetic Tests for Retinochoroidal Coloboma

Genetic tests related to Retinochoroidal Coloboma:

# Genetic test Affiliating Genes
1 Retinal Coloboma 30

Anatomical Context for Retinochoroidal Coloboma

MalaCards organs/tissues related to Retinochoroidal Coloboma:

42
Retina, Eye, Endothelial

Publications for Retinochoroidal Coloboma

Articles related to Retinochoroidal Coloboma:

(show all 31)
# Title Authors Year
1
Abrogation of Stem Loop Binding Protein (Slbp) function leads to a failure of cells to transition from proliferation to differentiation, retinal coloboma and midline axon guidance deficits. ( 30695021 )
2019
2
Atypical superior iris and retinochoroidal coloboma. ( 30249843 )
2018
3
Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma. ( 27793604 )
2017
4
Antivascular Endothelial Growth Factor Monotherapy for Choroidal Neovascularization Associated With Retinochoroidal Coloboma: Case Series. ( 26918902 )
2016
5
Hypotonic maculopathy secondary to scleral defect in atypical retinochoroidal coloboma. ( 27445074 )
2016
6
Prenatal diagnosis of retinal coloboma: interest of the three dimensional ultrasonography. ( 27016092 )
2016
7
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. ( 26660953 )
2016
8
Spontaneous resealing of perforated scleral ectasia associated with atypical retinochoroidal coloboma. ( 25800772 )
2015
9
PNEUMATIC RETINOPEXY FOR THE TREATMENT OF SHALLOW RETINAL DETACHMENT CAUSED BY A RETINAL BREAK IN THE INTERCALARY MEMBRANE OF MACULA SPARING RETINOCHOROIDAL COLOBOMA. ( 26465342 )
2015
10
RE: On a retinochoroidal coloboma. ( 22883851 )
2012
11
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. ( 22228100 )
2012
12
Initial presentation of a retinochoroidal coloboma in a preterm neonate. ( 21995995 )
2011
13
Intravitreal bevacizumab for choroidal neovascularization associated with a retinochoroidal coloboma. ( 19713977 )
2010
14
Retinal coloboma: prenatal diagnosis using a new technique, the 'virtual fetal eyeground'. ( 19308931 )
2009
15
Spontaneous scleral rupture adjacent to retinochoroidal coloboma. ( 25390595 )
2008
16
Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia. ( 17564942 )
2007
17
A newly established mutant strain with mild-type ocular coloboma (retinochoroidal coloboma without microphthalmia) in albino mice. ( 16596662 )
2006
18
Choroidal neovascularization in retinochoroidal coloboma: thermal laser treatment achieves long-term stabilization of visual acuity. ( 16151482 )
2006
19
Subretinal neovascularization associated with retinochoroidal coloboma. ( 16329073 )
2005
20
Iridic and retinal coloboma associated with prenatal methimazole exposure. ( 16278885 )
2005
21
Successful closure of spontaneous scleral fistula in retinochoroidal coloboma. ( 11483101 )
2001
22
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. ( 11135491 )
2000
23
Subretinal neovascularization associated with retinochoroidal coloboma. ( 9475031 )
1997
24
Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma. ( 8843132 )
1996
25
Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele. ( 7748133 )
1995
26
Subretinal neovascular membrane in an infant with a retinochoroidal coloboma. ( 1726773 )
1991
27
Retinochoroidal coloboma and subretinal neovascularization. ( 2029115 )
1991
28
Retinochoroidal coloboma: varieties of clinical presentations. ( 2310120 )
1990
29
Laser treatment of a subretinal neovascular membrane associated with retinochoroidal coloboma. ( 2432636 )
1986
30
Retinochoroidal coloboma associated with subretinal neovascularization. ( 2416022 )
1985
31
FAMILIAL SYNDROME OF DYSPLASTIC BODY BUILD, MENTAL RETARDATION AND CHOROIDO-RETINAL COLOBOMA. ( 14136828 )
1963

Variations for Retinochoroidal Coloboma

ClinVar genetic disease variations for Retinochoroidal Coloboma:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(2;14)(p23;q13)dn Translocation Uncertain significance
2 CHD7 NM_017780.3(CHD7): c.1513C> T (p.Gln505Ter) single nucleotide variant Pathogenic rs1554581757 GRCh37 Chromosome 8, 61655504: 61655504
3 CHD7 NM_017780.3(CHD7): c.1513C> T (p.Gln505Ter) single nucleotide variant Pathogenic rs1554581757 GRCh38 Chromosome 8, 60742945: 60742945

Expression for Retinochoroidal Coloboma

Search GEO for disease gene expression data for Retinochoroidal Coloboma.

Pathways for Retinochoroidal Coloboma

GO Terms for Retinochoroidal Coloboma

Sources for Retinochoroidal Coloboma

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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