Coloboma

"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.

MeSH information

Definition | Details | More General Concepts | Related Concepts | More Specific Concepts

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

Below are MeSH descriptors whose meaning is more general than "Coloboma".

Diseases [C]
Eye Diseases [C11]
Eye Abnormalities [C11.250]
Coloboma [C11.250.110]
Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
Congenital Abnormalities [C16.131]
Eye Abnormalities [C16.131.384]
Coloboma [C16.131.384.282]

Below are MeSH descriptors whose meaning is related to "Coloboma".

Below are MeSH descriptors whose meaning is more specific than "Coloboma".

publications

Timeline | Most Recent

This graph shows the total number of publications written about "Coloboma" by people in Harvard Catalyst Profiles by year, and whether "Coloboma" was a major or minor topic of these publication.

Bar chart showing 33 publications over 17 distinct years, with a maximum of 4 publications in 2020

To see the data from this visualization as text, click here.

Year	Major Topic	Minor Topic	Total
1995	0	1	1
1996	2	0	2
2001	1	0	1
2002	2	0	2
2003	2	0	2
2005	1	0	1
2009	1	1	2
2010	2	1	3
2012	1	1	2
2013	1	0	1
2014	0	2	2
2016	1	0	1
2017	1	0	1
2018	3	0	3
2019	3	0	3
2020	1	3	4
2021	1	1	2

Below are the most recent publications written about "Coloboma" by people in Profiles.

Risk of Retinal Detachment in Children with Ocular Coloboma. Ophthalmology. 2022 01; 129(1):117-118.

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Identification of candidate PAX2-regulated genes implicated in human kidney development. Sci Rep. 2021 04 27; 11(1):9123.

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Bifid nose as the sole manifestation of BNAR syndrome, a FREM1-related condition. Clin Genet. 2020 11; 98(5):515-516.

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Mitf-family transcription factor function is required within cranial neural crest cells to promote choroid fissure closure. Development. 2020 07 13; 147(21).

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Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings. Am J Med Genet A. 2020 08; 182(8):1923-1932.

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Ocular and adnexal anomalies in craniofacial microsomia: a systematic review. Int J Oral Maxillofac Surg. 2020 Sep; 49(9):1107-1114.

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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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Detailed analysis of chick optic fissure closure reveals Netrin-1 as an essential mediator of epithelial fusion. Elife. 2019 06 04; 8.

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Homozygous frameshift mutations in FAT1 cause a syndrome characterized by colobomatous-microphthalmia, ptosis, nephropathy and syndactyly. Nat Commun. 2019 03 12; 10(1):1180.

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Familial non-syndromic macular pseudocoloboma secondary to homozygous CLDN19 mutation. Ophthalmic Genet. 2018 10; 39(5):577-583.

View in: PubMed

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