 Eye Diseases, Hereditary
"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
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| MeSH Number(s) |
C11.270 C16.320.290
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| Concept/Terms |
Eye Diseases, Hereditary- Eye Diseases, Hereditary
- Disease, Hereditary Eye
- Diseases, Hereditary Eye
- Eye Disease, Hereditary
- Hereditary Eye Disease
- Hereditary Eye Diseases
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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 |
|---|
| 2007 | 1 | 0 | 1 | | 2011 | 0 | 1 | 1 | | 2013 | 1 | 1 | 2 | | 2014 | 0 | 1 | 1 | | 2016 | 1 | 0 | 1 | | 2019 | 0 | 1 | 1 | | 2020 | 0 | 1 | 1 |
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Below are the most recent publications written about "Eye Diseases, Hereditary" by people in Profiles.
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Di Scipio M, Tavares E, Deshmukh S, Audo I, Green-Sanderson K, Zubak Y, Zine-Eddine F, Pearson A, Vig A, Tang CY, Mollica A, Karas J, Tumber A, Yu CW, Billingsley G, Wilson MD, Zeitz C, Héon E, Vincent A. Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization. Invest Ophthalmol Vis Sci. 2020 08 03; 61(10):36.
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Shao Z, Tumber A, Maynes J, Tavares E, Kannu P, Heon E, Vincent A. Unique retinal signaling defect in GNB5-related disease. Doc Ophthalmol. 2020 06; 140(3):273-277.
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Vincent A, Audo I, Tavares E, Maynes JT, Tumber A, Wright T, Li S, Michiels C, Condroyer C, MacDonald H, Verdet R, Sahel JA, Hamel CP, Zeitz C, Héon E. Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness. Am J Hum Genet. 2016 05 05; 98(5):1011-1019.
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Guerin A, So J, Mireskandari K, Jougeh-Doust S, Chisholm C, Klatt R, Richer J. Expanding the clinical spectrum of ocular anomalies in Noonan syndrome: Axenfeld-anomaly in a child with PTPN11 mutation. . 2015 Feb; 167A(2):403-6.
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Kava M, Chitayat D, Blaser S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular dystrophies caused by fukutin-related protein gene (FKRP) mutations. Pediatr Neurol. 2013 Nov; 49(5):374-8.
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Vincent A, Robson AG, Holder GE. Pathognomonic (diagnostic) ERGs. A review and update. Retina. 2013 Jan; 33(1):5-12.
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Vincent A, Wright T, Day MA, Westall CA, Héon E. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family. Mol Vis. 2011; 17:3262-70.
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Morad Y, Sutherland J, DaSilva L, Ulster A, Shik J, Gallie B, Héon E, Levin AV. Ocular Genetics Program: multidisciplinary care of patients with ocular genetic eye disease. Can J Ophthalmol. 2007 Oct; 42(5):734-8.
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