"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 |
|---|
| 2016 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 1 | 0 | 1 |
| 2021 | 1 | 0 | 1 |
| 2022 | 2 | 0 | 2 |
| 2023 | 1 | 0 | 1 |
| 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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A novel variant affecting the cytoplasmic tail of the FAT1 protocadherin causing coloboma and renal failure: A case report. Ophthalmic Genet. 2023 04; 44(2):182-185.
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Zfp503/Nlz2 Is Required for RPE Differentiation and Optic Fissure Closure. Invest Ophthalmol Vis Sci. 2022 Nov 01; 63(12):5.
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De novo frameshift mutation in YAP1 associated with bilateral uveal coloboma and microphthalmia. Ophthalmic Genet. 2022 08; 43(4):513-517.
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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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Ocular and Systemic Findings in Adults with Uveal Coloboma. Ophthalmology. 2020 12; 127(12):1772-1774.
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High-throughput custom capture sequencing identifies novel mutations in coloboma-associated genes: Mutation in DNA-binding domain of retinoic acid receptor beta affects nuclear localization causing ocular coloboma. Hum Mutat. 2020 03; 41(3):678-695.
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Biallelic Mutations in MITF Cause Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness. Am J Hum Genet. 2016 Dec 01; 99(6):1388-1394.