 Albinism, Ocular
"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 |
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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 |
|---|
| 2005 | 1 | 0 | 1 |
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Below are the most recent publications written about "Albinism, Ocular" by people in Profiles.
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Hutton SM, Spritz RA. A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients. Invest Ophthalmol Vis Sci. 2008 Mar; 49(3):868-72.
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Wolf AB, Rubin SE, Kodsi SR. Comparison of clinical findings in pediatric patients with albinism and different amplitudes of nystagmus. J AAPOS. 2005 Aug; 9(4):363-8.
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Morell R, Spritz RA, Ho L, Pierpont J, Guo W, Friedman TB, Asher JH. Apparent digenic inheritance of Waardenburg syndrome type 2 (WS2) and autosomal recessive ocular albinism (AROA). Hum Mol Genet. 1997 May; 6(5):659-64.
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Fukai K, Holmes SA, Lucchese NJ, Siu VM, Weleber RG, Schnur RE, Spritz RA. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet. 1995 Jan; 9(1):92-5.
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Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA. Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism. N Engl J Med. 1994 Feb 24; 330(8):529-34.
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