MCID: RTN123
MIFTS: 19

Retinochoroidal Coloboma

Categories: Rare diseases, Eye diseases

Aliases & Classifications for Retinochoroidal Coloboma

MalaCards integrated aliases for Retinochoroidal Coloboma:

Name: Retinochoroidal Coloboma 53
Retinal Coloboma 53 29 6
Coloboma of Choroid and Retina 53
Choroidal Coloboma 53

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases


Summaries for Retinochoroidal Coloboma

NIH Rare Diseases : 53 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

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

(show all 13)
# Related Disease Score Top Affiliating Genes
1 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness 12.0
2 aortic arch interruption, facial palsy, and retinal coloboma 11.9
3 papillorenal syndrome 11.0
4 baraitser rodeck garner syndrome 11.0
5 coloboma, ocular, autosomal dominant 11.0
6 coloboma, ocular, autosomal recessive 11.0
7 baraitser-winter syndrome 1 10.9
8 choroiditis 10.2
9 retinitis 9.9
10 encephalocele 9.9
11 endotheliitis 9.9
12 retinal detachment 9.9
13 microphthalmia 9.9

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 29

Anatomical Context for Retinochoroidal Coloboma

MalaCards organs/tissues related to Retinochoroidal Coloboma:

41
Retina, Eye, Endothelial

Publications for Retinochoroidal Coloboma

Articles related to Retinochoroidal Coloboma:

(show all 30)
# Title Authors Year
1
Association of Pediatric Choroidal Neovascular Membranes at the Temporal Edge of Optic Nerve and Retinochoroidal Coloboma. ( 27793604 )
2017
2
Antivascular Endothelial Growth Factor Monotherapy for Choroidal Neovascularization Associated With Retinochoroidal Coloboma: Case Series. ( 26918902 )
2016
3
Hypotonic maculopathy secondary to scleral defect in atypical retinochoroidal coloboma. ( 27445074 )
2016
4
Prenatal diagnosis of retinal coloboma: interest of the three dimensional ultrasonography. ( 27016092 )
2016
5
Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. ( 26660953 )
2016
6
Spontaneous resealing of perforated scleral ectasia associated with atypical retinochoroidal coloboma. ( 25800772 )
2015
7
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
8
RE: On a retinochoroidal coloboma. ( 22883851 )
2012
9
Regulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma. ( 22228100 )
2012
10
Initial presentation of a retinochoroidal coloboma in a preterm neonate. ( 21995995 )
2011
11
Intravitreal bevacizumab for choroidal neovascularization associated with a retinochoroidal coloboma. ( 19713977 )
2010
12
Retinal coloboma: prenatal diagnosis using a new technique, the 'virtual fetal eyeground'. ( 19308931 )
2009
13
Spontaneous scleral rupture adjacent to retinochoroidal coloboma. ( 25390595 )
2008
14
Left-sided Duane's syndrome and retinal coloboma associated with contralateral microphthalmia. ( 17564942 )
2007
15
A newly established mutant strain with mild-type ocular coloboma (retinochoroidal coloboma without microphthalmia) in albino mice. ( 16596662 )
2006
16
Choroidal neovascularization in retinochoroidal coloboma: thermal laser treatment achieves long-term stabilization of visual acuity. ( 16151482 )
2006
17
Subretinal neovascularization associated with retinochoroidal coloboma. ( 16329073 )
2005
18
Iridic and retinal coloboma associated with prenatal methimazole exposure. ( 16278885 )
2005
19
Successful closure of spontaneous scleral fistula in retinochoroidal coloboma. ( 11483101 )
2001
20
A new association of congenital hydrocephalus, albinism, megalocornea, and retinal coloboma in a syndromic child: a clinical and genetic study. ( 11135491 )
2000
21
Chondrodysplasia punctata with retinal colobomas: radiographic findings. ( 9605308 )
1998
22
Subretinal neovascularization associated with retinochoroidal coloboma. ( 9475031 )
1997
23
Systemic abnormalities associated with iris/nerve head/choroidal/retinal coloboma. ( 8843132 )
1996
24
Atypical retinochoroidal coloboma in patients with dysplastic optic discs and transsphenoidal encephalocele. ( 7748133 )
1995
25
Subretinal neovascular membrane in an infant with a retinochoroidal coloboma. ( 1726773 )
1991
26
Retinochoroidal coloboma and subretinal neovascularization. ( 2029115 )
1991
27
Retinochoroidal coloboma: varieties of clinical presentations. ( 2310120 )
1990
28
Laser treatment of a subretinal neovascular membrane associated with retinochoroidal coloboma. ( 2432636 )
1986
29
Retinochoroidal coloboma associated with subretinal neovascularization. ( 2416022 )
1985
30
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 GRCh37 Chromosome 8, 61655504: 61655504
3 CHD7 NM_017780.3(CHD7): c.1513C> T (p.Gln505Ter) single nucleotide variant Pathogenic 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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