"Nystagmus, Congenital" 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.
Nystagmus present at birth or caused by lesions sustained in utero or at the time of birth. It is usually pendular, and is associated with ALBINISM and conditions characterized by early loss of central vision. Inheritance patterns may be X-linked, autosomal dominant, or recessive. (Adams et al., Principles of Neurology, 6th ed, p275)
| Descriptor ID |
D020417
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| MeSH Number(s) |
C10.292.562.675.300 C11.590.400.300 C16.614.643
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| Concept/Terms |
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Below are MeSH descriptors whose meaning is more general than "Nystagmus, Congenital".
Below are MeSH descriptors whose meaning is more specific than "Nystagmus, Congenital".
This graph shows the total number of publications written about "Nystagmus, Congenital" by people in this website by year, and whether "Nystagmus, Congenital" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2004 | 1 | 0 | 1 |
| 2006 | 1 | 0 | 1 |
| 2009 | 1 | 0 | 1 |
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Below are the most recent publications written about "Nystagmus, Congenital" by people in Profiles.
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A de novo splice site mutation in CASK causes FG syndrome-4 and congenital nystagmus. Am J Med Genet A. 2017 Mar; 173(3):611-617.
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CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010 May; 18(5):544-52.
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Mutations in FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus. Nat Genet. 2006 Nov; 38(11):1242-4.
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Effects of extraocular muscle surgery on 15 patients with oculo-cutaneous albinism (OCA) and infantile nystagmus syndrome (INS). Am J Ophthalmol. 2004 Dec; 138(6):978-87.