"Aniridia" 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.
A congenital abnormality in which there is only a rudimentary iris. This is due to the failure of the optic cup to grow. Aniridia also occurs in a hereditary form, usually autosomal dominant.
| Descriptor ID |
D015783
|
| MeSH Number(s) |
C11.250.060 C11.270.060 C11.941.375.060 C16.131.384.079 C16.320.290.078
|
| Concept/Terms |
Aniridia- Aniridia
- Irideremia
- Absent Iris
- Congenital Aniridia
|
Below are MeSH descriptors whose meaning is more general than "Aniridia".
Below are MeSH descriptors whose meaning is more specific than "Aniridia".
This graph shows the total number of publications written about "Aniridia" by people in this website by year, and whether "Aniridia" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 1995 | 1 | 0 | 1 |
| 2000 | 1 | 0 | 1 |
| 2001 | 1 | 0 | 1 |
| 2003 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
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Below are the most recent publications written about "Aniridia" by people in Profiles.
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Missense mutation in the PAX6 gene can cause a complex mild variable phenotype predominated by concomitant strabismus. Ophthalmic Genet. 2022 02; 43(1):88-96.
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A novel de novo intronic variant in ITPR1 causes Gillespie syndrome. Am J Med Genet A. 2021 08; 185(8):2315-2324.
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[Multifocal IOL optics and aniridia therapy]. Klin Monbl Augenheilkd. 2013 Aug; 230(8):785.
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Complete aniridia with central keratopathy and congenital glaucoma is a CYP1B1-related phenotype. Ophthalmic Genet. 2014 Sep; 35(3):187-9.
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Missense mutations in the DNA-binding region and termination codon in PAX6. Hum Mutat. 2003 Feb; 21(2):138-45.
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Missense mutation at the C-terminus of PAX6 negatively modulates homeodomain function. Hum Mol Genet. 2001 Apr 15; 10(9):911-8.
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Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat. 2000; 15(4):332-9.
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Three novel aniridia mutations in the human PAX6 gene. Hum Mutat. 1995; 6(1):44-9.
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Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins. Am J Hum Genet. 1994 May; 54(5):801-11.
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Criteria to detect minimal expressivity within families with autosomal dominant aniridia. Am J Ophthalmol. 1992 Dec 15; 114(6):700-7.