"Eye Abnormalities" 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 absence of or defects in structures of the eye; may also be hereditary.
Below are MeSH descriptors whose meaning is more general than "Eye Abnormalities".
Below are MeSH descriptors whose meaning is more specific than "Eye Abnormalities".
This graph shows the total number of publications written about "Eye Abnormalities" by people in this website by year, and whether "Eye Abnormalities" was a major or minor topic of these publications.
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|Year||Major Topic||Minor Topic||Total|
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Below are the most recent publications written about "Eye Abnormalities" by people in Profiles.
The Joubert-Meckel-Nephronophthisis Spectrum of Ciliopathies. Annu Rev Genomics Hum Genet. 2022 08 31; 23:301-329.
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome. J Clin Invest. 2020 08 03; 130(8):4423-4439.
Surgical outcomes of Glaucoma associated with Axenfeld-Rieger syndrome. BMC Ophthalmol. 2020 May 01; 20(1):172.
Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities. Am J Hum Genet. 2020 05 07; 106(5):623-631.
SWEPT SOURCE OPTICAL COHERENCE TOMOGRAPHY VALIDATES LAMINA CRIBROSA ANOMALY IN OPTIC DISK PIT. Retin Cases Brief Rep. 2018 Winter; 12(1):42-44.
Super-resolution microscopy reveals that disruption of ciliary transition-zone architecture causes Joubert syndrome. Nat Cell Biol. 2017 Oct; 19(10):1178-1188.
Mutations in ARMC9, which Encodes a Basal Body Protein, Cause Joubert Syndrome in Humans and Ciliopathy Phenotypes in Zebrafish. Am J Hum Genet. 2017 Jul 06; 101(1):23-36.
Propranolol-responsive cranial nerve palsies in a patient with PHACES syndrome. Int J Pediatr Otorhinolaryngol. 2015 Oct; 79(10):1778-81.
Optic nerve abnormalities in children: a practical approach. J AAPOS. 2011 Jun; 15(3):281-90.
Spasmus nutans-like nystagmus is often associated with underlying ocular, intracranial, or systemic abnormalities. J Neuroophthalmol. 2007 Jun; 27(2):118-22.