"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 |
1998 | 1 | 0 | 1 |
1999 | 1 | 0 | 1 |
2001 | 1 | 0 | 1 |
2007 | 1 | 0 | 1 |
2010 | 0 | 1 | 1 |
2013 | 1 | 0 | 1 |
2015 | 1 | 1 | 2 |
2017 | 0 | 1 | 1 |
2018 | 1 | 0 | 1 |
2019 | 1 | 0 | 1 |
2021 | 2 | 0 | 2 |
To return to the timeline,
click here.
Below are the most recent publications written about "Eye Diseases, Hereditary" by people in Profiles.
-
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.
-
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.
-
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.
-
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.
-
Congenital Mydriasis With Aortic and Cerebrovascular Disease. Pediatr Neurol. 2017 09; 74:100-101.
-
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.
-
A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology. 2015 Aug; 25(8):836-44.
-
Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015 Feb 24; 56(3):1937-46.
-
Congenital mydriasis associated with megacystis microcolon intestinal hypoperistalsis syndrome. J Neuroophthalmol. 2013 Sep; 33(3):271-5.
-
Genotype-phenotype correlation in X-linked Alport syndrome. J Am Soc Nephrol. 2010 May; 21(5):876-83.