"Albinism, Oculocutaneous" 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.
Heterogeneous group of autosomal recessive disorders comprising at least four recognized types, all having in common varying degrees of hypopigmentation of the skin, hair, and eyes. The two most common are the tyrosinase-positive and tyrosinase-negative types.
| Descriptor ID |
D016115
|
| MeSH Number(s) |
C11.270.040.545 C16.320.290.040.100 C16.320.565.100.102.100 C16.320.850.080.100 C17.800.621.440.102.100 C17.800.827.080.100 C18.452.648.100.102.100
|
| Concept/Terms |
Albinism, Yellow-Mutant- Albinism, Yellow-Mutant
- Albinism, Yellow Mutant
- Yellow-Mutant Albinism
- Yellow Mutant Albinism
- Mutant Albinism, Yellow
- Mutant Albinisms, Yellow
|
Below are MeSH descriptors whose meaning is more general than "Albinism, Oculocutaneous".
- Diseases [C]
- Eye Diseases [C11]
- Eye Diseases, Hereditary [C11.270]
- Albinism [C11.270.040]
- Albinism, Oculocutaneous [C11.270.040.545]
- 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, Oculocutaneous [C16.320.290.040.100]
- Metabolism, Inborn Errors [C16.320.565]
- Amino Acid Metabolism, Inborn Errors [C16.320.565.100]
- Albinism [C16.320.565.100.102]
- Albinism, Oculocutaneous [C16.320.565.100.102.100]
- Skin Diseases, Genetic [C16.320.850]
- Albinism [C16.320.850.080]
- Albinism, Oculocutaneous [C16.320.850.080.100]
- 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, Oculocutaneous [C17.800.621.440.102.100]
- Skin Diseases, Genetic [C17.800.827]
- Albinism [C17.800.827.080]
- Albinism, Oculocutaneous [C17.800.827.080.100]
- 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, Oculocutaneous [C18.452.648.100.102.100]
Below are MeSH descriptors whose meaning is more specific than "Albinism, Oculocutaneous".
This graph shows the total number of publications written about "Albinism, Oculocutaneous" by people in this website by year, and whether "Albinism, Oculocutaneous" 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 |
|---|
| 2006 | 1 | 0 | 1 |
| 2007 | 1 | 0 | 1 |
| 2013 | 1 | 0 | 1 |
| 2015 | 1 | 0 | 1 |
| 2024 | 1 | 0 | 1 |
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click here.
Below are the most recent publications written about "Albinism, Oculocutaneous" by people in Profiles.
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Serrano-Gonz?lez J, Montes-Rodr?guez I, Renta JY, Rojas R, Cadilla CL. After an initial Hermansky-Pudlak syndrome clinical diagnosis, molecular testing reveals variants for oculocutaneous albinism type 1B: A case report. Mol Genet Genomic Med. 2024 Jul; 12(7):e2493.
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Farahi A, Hashemi H, Mehravaran S. Combined cataract surgery and aniridia ring implantation in oculocutaneous albinism. J Cataract Refract Surg. 2015 Nov; 41(11):2438-43.
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Rodr?guez-Agramonte F, Izquierdo NJ, Cadilla C. Ocular findings in patients with oculocutaneous albinism type ia with G47D tyrosinase gene mutation in Puerto Rico: a case report. Bol Asoc Med P R. 2013; 105(2):62-4.
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Izquierdo NJ, Emanuelli A, Izquierdo JC, Garc?a M, Cadilla C, Berrocal MH. Foveal thickness and macular volume in patients with oculocutaneous albinism. Retina. 2007 Nov-Dec; 27(9):1227-30.
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Santiago Borrero PJ, Rodr?guez-P?rez Y, Renta JY, Izquierdo NJ, Del Fierro L, Mu?oz D, Molina NL, Ram?rez S, Pag?n-Mercado G, Ort?z I, Rivera-Caragol E, Spritz RA, Cadilla CL. Genetic testing for oculocutaneous albinism type 1 and 2 and Hermansky-Pudlak syndrome type 1 and 3 mutations in Puerto Rico. J Invest Dermatol. 2006 Jan; 126(1):85-90.