"Microphthalmos" 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 or developmental anomaly in which the eyeballs are abnormally small.
| Descriptor ID |
D008850
|
| MeSH Number(s) |
C11.250.566 C16.131.384.666
|
| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Microphthalmos".
Below are MeSH descriptors whose meaning is more specific than "Microphthalmos".
This graph shows the total number of publications written about "Microphthalmos" by people in this website by year, and whether "Microphthalmos" was a major or minor topic of these publications.
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click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 2016 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2020 | 2 | 1 | 3 |
| 2021 | 1 | 0 | 1 |
| 2022 | 2 | 0 | 2 |
| 2024 | 1 | 0 | 1 |
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Below are the most recent publications written about "Microphthalmos" by people in Profiles.
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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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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PLoS One. 2022; 17(11):e0268149.
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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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Clinical diagnosis of presumed SOX2 gonadosomatic mosaicism. Ophthalmic Genet. 2021 06; 42(3):320-325.
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A Comprehensive Assessment of Co-occurring Birth Defects among Infants with Non-Syndromic Anophthalmia or Microphthalmia. Ophthalmic Epidemiol. 2021 10; 28(5):428-435.
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Novel TMEM98, MFRP, PRSS56 variants in a large United States high hyperopia and nanophthalmos cohort. Sci Rep. 2020 11 17; 10(1):19986.
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Ocular and Systemic Findings in Adults with Uveal Coloboma. Ophthalmology. 2020 12; 127(12):1772-1774.
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Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. PLoS Genet. 2019 05; 15(5):e1008130.
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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.
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ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm. Hum Mol Genet. 2013 Aug 15; 22(16):3250-8.