"Albinism, Ocular" 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.
Albinism affecting the eye in which pigment of the hair and skin is normal or only slightly diluted. The classic type is X-linked (Nettleship-Falls), but an autosomal recessive form also exists. Ocular abnormalities may include reduced pigmentation of the iris, nystagmus, photophobia, strabismus, and decreased visual acuity.
| Descriptor ID |
D016117
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| MeSH Number(s) |
C11.270.040.090 C16.320.290.040.090 C16.320.565.100.102.090 C16.320.850.080.090 C17.800.621.440.102.090 C17.800.827.080.090 C18.452.648.100.102.090
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| Concept/Terms |
|
Below are MeSH descriptors whose meaning is more general than "Albinism, Ocular".
- Diseases [C]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Albinism [C11.270.040]
- Albinism, Ocular [C11.270.040.090]
- Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
- Eye Diseases, Hereditary [C16.320.290]
- Albinism [C16.320.290.040]
- Albinism, Ocular [C16.320.290.040.090]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Albinism, Ocular [C16.320.565.100.102.090]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Albinism, Ocular [C16.320.850.080.090]
- Skin and Connective Tissue Diseases [C17]
- Skin Diseases [C17.800]
- Pigmentation Disorders [C17.800.621]
- Hypopigmentation [C17.800.621.440]
- Albinism [C17.800.621.440.102]
- Albinism, Ocular [C17.800.621.440.102.090]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- Albinism, Ocular [C17.800.827.080.090]
- Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
- Metabolism, Inborn Errors [C18.452.648]
- Amino Acid Metabolism, Inborn Errors [C18.452.648.100]
- Albinism [C18.452.648.100.102]
- Albinism, Ocular [C18.452.648.100.102.090]
Below are MeSH descriptors whose meaning is more specific than "Albinism, Ocular".
This graph shows the total number of publications written about "Albinism, Ocular" by people in this website by year, and whether "Albinism, Ocular" 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 |
|---|
| 1995 | 2 | 0 | 2 |
| 1996 | 3 | 0 | 3 |
| 1999 | 1 | 0 | 1 |
| 2000 | 3 | 0 | 3 |
| 2001 | 1 | 0 | 1 |
| 2005 | 2 | 0 | 2 |
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2008 | 0 | 1 | 1 |
To return to the timeline,
click here.
Below are the most recent publications written about "Albinism, Ocular" by people in Profiles.
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The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells. Hum Mol Genet. 2008 Nov 15; 17(22):3487-501.
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New mutations identified in the ocular albinism type 1 gene. Gene. 2007 Nov 01; 402(1-2):20-7.
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Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides. Hum Mutat. 2006 May; 27(5):420-6.
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The ocular albinism type 1 (OA1) gene controls melanosome maturation and size. Invest Ophthalmol Vis Sci. 2005 Dec; 46(12):4358-64.
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Amelioration of both functional and morphological abnormalities in the retina of a mouse model of ocular albinism following AAV-mediated gene transfer. Mol Ther. 2005 Oct; 12(4):652-8.
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Diverse prevalence of large deletions within the OA1 gene in ocular albinism type 1 patients from Europe and North America. Hum Genet. 2001 Jan; 108(1):51-4.
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Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1. Hum Mol Genet. 2000 Dec 12; 9(20):3011-8.
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Expression pattern of the ocular albinism type 1 (Oa1) gene in the murine retinal pigment epithelium. Invest Ophthalmol Vis Sci. 2000 Dec; 41(13):4333-7.
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Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Hum Mol Genet. 2000 Nov 22; 9(19):2781-8.
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Ocular albinism: evidence for a defect in an intracellular signal transduction system. Nat Genet. 1999 Sep; 23(1):108-12.