"Coloboma" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
| Descriptor ID |
D003103
|
| MeSH Number(s) |
C11.250.110 C16.131.384.282
|
| Concept/Terms |
Coloboma- Coloboma
- Colobomas
- Coloboma, Uveoretinal
- Coloboma Of Iris, Choroid, And Retina
- Uveoretinal Coloboma
- Coloboma, Ocular
- Ocular Coloboma
|
Below are MeSH descriptors whose meaning is more general than "Coloboma".
Below are MeSH descriptors whose meaning is more specific than "Coloboma".
This graph shows the total number of publications written about "Coloboma" by people in this website by year, and whether "Coloboma" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 2 | 1 | 3 |
| 1996 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2003 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
| 2011 | 0 | 1 | 1 |
| 2012 | 1 | 1 | 2 |
| 2017 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
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Below are the most recent publications written about "Coloboma" by people in Profiles.
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De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia. Am J Hum Genet. 2019 08 01; 105(2):413-424.
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Alu-mediated deletion of PIGL in a Patient with CHIME syndrome. Am J Med Genet A. 2017 May; 173(5):1378-1382.
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Peripheral nonperfusion and tractional retinal detachment associated with congenital optic nerve anomalies. Ophthalmology. 2013 Mar; 120(3):607-615.
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Typical renal-coloboma syndrome phenotype in a patient with a submicroscopic deletion of the PAX2 gene. Am J Med Genet A. 2012 Jun; 158A(6):1437-41.
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26; 44(4):440-4, S1-2.
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Thirty-Year follow-up of an African American family with macular dystrophy of the retina, locus 1 (North Carolina macular dystrophy). Ophthalmology. 2011 Jul; 118(7):1435-43.
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis). J Med Genet. 2010 Jan; 47(1):8-21.
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Intrachromosomal duplications of 22q11 are not a common cause of isolated coloboma and coloboma with other limited features of cat eye syndrome. Am J Med Genet A. 2008 Feb 01; 146A(3):401-4.
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Reciprocal fusion transcripts of two novel Zn-finger genes in a female with absence of the corpus callosum, ocular colobomas and a balanced translocation between chromosomes 2p24 and 9q32. Eur J Hum Genet. 2003 Jul; 11(7):527-34.
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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of renal-coloboma syndrome. Hum Mutat. 1999; 14(5):369-76.