 Eye Abnormalities
"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.
| Descriptor ID |
D005124
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| MeSH Number(s) |
C11.250 C16.131.384
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| Concept/Terms |
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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.
To see the data from this visualization as text, click here.
| Year | Major Topic | Minor Topic | Total |
|---|
| 1998 | 1 | 0 | 1 | | 2002 | 0 | 1 | 1 | | 2004 | 1 | 0 | 1 | | 2005 | 1 | 0 | 1 | | 2006 | 0 | 1 | 1 | | 2010 | 1 | 0 | 1 | | 2011 | 2 | 0 | 2 | | 2014 | 1 | 0 | 1 | | 2016 | 2 | 0 | 2 | | 2018 | 1 | 1 | 2 | | 2019 | 2 | 0 | 2 | | 2020 | 1 | 0 | 1 | | 2025 | 0 | 1 | 1 |
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Below are the most recent publications written about "Eye Abnormalities" by people in Profiles.
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Curinha A, Huang Z, Anglen T, Strong MA, Gliech CR, Jewett CE, Friskes A, Phan TP, Nicholas Z, Holland AJ. Centriole structural integrity defects are a crucial feature of hydrolethalus syndrome. J Cell Biol. 2025 Apr 07; 224(4).
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Xia JL, Kadom N, Mansukhani SA, Couser NL, Lenhart PD. Magnetic Resonance Imaging Findings and Genetic Testing Results in Children With Congenital Corneal Opacities. Am J Ophthalmol. 2024 03; 259:62-70.
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Wu CW, Mann N, Nakayama M, Connaughton DM, Dai R, Kolvenbach CM, Kause F, Ottlewski I, Wang C, Klämbt V, Seltzsam S, Lai EW, Selvin A, Senguttuva P, Bodamer O, Stein DR, El Desoky S, Kari JA, Tasic V, Bauer SB, Shril S, Hildebrandt F. Phenotype expansion of heterozygous FOXC1 pathogenic variants toward involvement of congenital anomalies of the kidneys and urinary tract (CAKUT). Genet Med. 2020 10; 22(10):1673-1681.
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Balkin DM, Poranki M, Forester CM, Dorsey MJ, Slavotinek A, Pomerantz JH. TASP1 mutation in a female with craniofacial anomalies, anterior segment dysgenesis, congenital immunodeficiency and macrocytic anemia. Mol Genet Genomic Med. 2019 09; 7(9):e818.
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Umfress AC, Hair CD, Donahue SP. Prevalence of Ocular Pathology on Initial Screening and Incidence of New Findings on Follow-up Examinations in Children With Trisomy 21. Am J Ophthalmol. 2019 11; 207:373-377.
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Louka P, Vasudevan KK, Guha M, Joachimiak E, Wloga D, Tomasi RF, Baroud CN, Dupuis-Williams P, Galati DF, Pearson CG, Rice LM, Moresco JJ, Yates JR, Jiang YY, Lechtreck K, Dentler W, Gaertig J. Proteins that control the geometry of microtubules at the ends of cilia. J Cell Biol. 2018 12 03; 217(12):4298-4313.
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Dinella JD, Chen J, Webb S, Siegfried E, Bree AF, Lakshmanachetty S, Balaiya V, Koster MI, Koch PJ. A Human Stem Cell-Based System to Study the Role of TP63 Mutations in Ectodermal Dysplasias. J Invest Dermatol. 2018 07; 138(7):1662-1665.
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Ling J, Mehta V, Reddy A, Hollar M, Donahue S. An abnormal ocular motor manifestation of Joubert syndrome. J AAPOS. 2017 02; 21(1):75-77.
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Martino VB, Sabljic T, Deschamps P, Green RM, Akula M, Peacock E, Ball A, Williams T, West-Mays JA. Conditional deletion of AP-2ß in mouse cranial neural crest results in anterior segment dysgenesis and early-onset glaucoma. Dis Model Mech. 2016 08 01; 9(8):849-61.
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Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloglu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015 Aug; 52(8):514-22.
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