"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.
To see the data from this visualization as text,
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 0 | 1 | 1 |
| 2002 | 1 | 1 | 2 |
| 2004 | 1 | 0 | 1 |
| 2005 | 2 | 0 | 2 |
| 2010 | 0 | 2 | 2 |
| 2012 | 0 | 1 | 1 |
| 2014 | 0 | 1 | 1 |
| 2016 | 0 | 1 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
| 2023 | 2 | 0 | 2 |
| 2024 | 2 | 0 | 2 |
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Below are the most recent publications written about "Coloboma" by people in Profiles.
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Epidemiology of Coloboma: Prevalence and Patterns in Texas, 1999-2014. Birth Defects Res. 2024 Nov; 116(11):e2413.
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High Clinical Exome Sequencing Diagnostic Rates and Novel Phenotypic Expansions for Nonisolated Microphthalmia, Anophthalmia, and Coloboma. Invest Ophthalmol Vis Sci. 2024 Mar 05; 65(3):25.
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Genome-wide screening reveals the genetic basis of mammalian embryonic eye development. BMC Biol. 2023 02 03; 21(1):22.
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Progressive Vision Loss in an Adult With Congenital Optic Nerve Coloboma, Hydrocephalus, and Basal Encephalocele. J Neuroophthalmol. 2024 Jun 01; 44(2):e236-e237.
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Review of evidence for environmental causes of uveal coloboma. Surv Ophthalmol. 2022 Jul-Aug; 67(4):1031-1047.
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Optic Nerve Aplasia. J Neuroophthalmol. 2022 03 01; 42(1):e140-e146.
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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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The triad of pruritus, xanthomas, and cholestasis: Two cases and a brief review of the literature. Pediatr Dermatol. 2017 Nov; 34(6):e305-e308.
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Corneal clouding, cataract, and colobomas with a novel missense mutation in B4GALT7-a review of eye anomalies in the linkeropathy syndromes. Am J Med Genet A. 2016 10; 170(10):2711-8.
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Monoallelic and biallelic mutations in MAB21L2 cause a spectrum of major eye malformations. Am J Hum Genet. 2014 Jun 05; 94(6):915-23.