"Eye Diseases, Hereditary" 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.
Transmission of gene defects or chromosomal aberrations/abnormalities which are expressed in extreme variation in the structure or function of the eye. These may be evident at birth, but may be manifested later with progression of the disorder.
| Descriptor ID |
D015785
|
| MeSH Number(s) |
C11.270 C16.320.290
|
| Concept/Terms |
Eye Diseases, Hereditary- Eye Diseases, Hereditary
- Disease, Hereditary Eye
- Diseases, Hereditary Eye
- Eye Disease, Hereditary
- Hereditary Eye Disease
- Hereditary Eye Diseases
|
Below are MeSH descriptors whose meaning is more general than "Eye Diseases, Hereditary".
Below are MeSH descriptors whose meaning is more specific than "Eye Diseases, Hereditary".
This graph shows the total number of publications written about "Eye Diseases, Hereditary" by people in this website by year, and whether "Eye Diseases, Hereditary" 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 |
|---|
| 1997 | 1 | 0 | 1 |
| 1999 | 1 | 0 | 1 |
| 2001 | 2 | 0 | 2 |
| 2007 | 1 | 0 | 1 |
| 2010 | 0 | 1 | 1 |
| 2013 | 1 | 0 | 1 |
| 2014 | 1 | 0 | 1 |
| 2015 | 1 | 1 | 2 |
| 2016 | 0 | 1 | 1 |
| 2017 | 0 | 1 | 1 |
| 2018 | 1 | 0 | 1 |
| 2019 | 1 | 0 | 1 |
| 2021 | 2 | 0 | 2 |
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Below are the most recent publications written about "Eye Diseases, Hereditary" by people in Profiles.
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TNPO2 variants associate with human developmental delays, neurologic deficits, and dysmorphic features and alter TNPO2 activity in Drosophila. Am J Hum Genet. 2021 09 02; 108(9):1669-1691.
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Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome. Invest Ophthalmol Vis Sci. 2021 06 01; 62(7):27.
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Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects. Hum Genet. 2021 Aug; 140(8):1143-1156.
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Diffuse Outer Layer Opacification: A Novel Finding in Patients With Autosomal Recessive Bestrophinopathy. Asia Pac J Ophthalmol (Phila). 2019 Nov-Dec; 8(6):469-475.
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Unicentric Castleman disease, hyaline vascular variant, stromal rich, with increased plasma cells and a high level of serum IL-6: Raising the diagnostic and therapeutic issues. Ann Diagn Pathol. 2019 Dec; 43:151398.
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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations. Genet Med. 2018 10; 20(10):1206-1215.
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Congenital Mydriasis With Aortic and Cerebrovascular Disease. Pediatr Neurol. 2017 09; 74:100-101.
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An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a TUBB3 mutation. Cold Spring Harb Mol Case Stud. 2017 03; 3(2):a000984.
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Haploinsufficiency of RCBTB1 is associated with Coats disease and familial exudative vitreoretinopathy. Hum Mol Genet. 2016 Apr 15; 25(8):1637-47.
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A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 2015 Aug; 25(8):836-44.