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Oculocutaneous albinism

Overview of attention for article published in Orphanet Journal of Rare Diseases, November 2007
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About this Attention Score

  • In the top 5% of all research outputs scored by Altmetric
  • Among the highest-scoring outputs from this source (#49 of 3,019)
  • High Attention Score compared to outputs of the same age (98th percentile)
  • High Attention Score compared to outputs of the same age and source (90th percentile)

Mentioned by

news
7 news outlets
blogs
2 blogs
twitter
2 X users
wikipedia
10 Wikipedia pages
video
2 YouTube creators

Citations

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427 Dimensions

Readers on

mendeley
503 Mendeley
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Title
Oculocutaneous albinism
Published in
Orphanet Journal of Rare Diseases, November 2007
DOI 10.1186/1750-1172-2-43
Pubmed ID
Authors

Karen Grønskov, Jakob Ek, Karen Brondum-Nielsen

Abstract

Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies considerably worldwide and has been estimated at approximately 1/17,000, suggesting that about 1 in 70 people carry a gene for OCA. The clinical spectrum of OCA ranges, with OCA1A being the most severe type with a complete lack of melanin production throughout life, while the milder forms OCA1B, OCA2, OCA3 and OCA4 show some pigment accumulation over time. Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive errors, color vision impairment and prominent photophobia. Misrouting of the optic nerves is a characteristic finding, resulting in strabismus and reduced stereoscopic vision. The degree of skin and hair hypopigmentation varies with the type of OCA. The incidence of skin cancer may be increased. All four types of OCA are inherited as autosomal recessive disorders. At least four genes are responsible for the different types of the disease (TYR, OCA2, TYRP1 and MATP). Diagnosis is based on clinical findings of hypopigmentation of the skin and hair, in addition to the characteristic ocular symptoms. Due to the clinical overlap between the OCA forms, molecular diagnosis is necessary to establish the gene defect and OCA subtype. Molecular genetic testing of TYR and OCA2 is available on a clinical basis, while, at present, analysis of TYRP1 and MATP is on research basis only. Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, and Waardenburg syndrome type II. Carrier detection and prenatal diagnosis are possible when the disease causing mutations have been identified in the family. Glasses (possibly bifocals) and dark glasses or photocromic lenses may offer sufficient help for reduced visual activity and photophobia. Correction of strabismus and nystagmus is necessary and sunscreens are recommended. Regular skin checks for early detection of skin cancer should be offered. Persons with OCA have normal lifespan, development, intelligence and fertility.

X Demographics

X Demographics

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Mendeley readers

Mendeley readers

The data shown below were compiled from readership statistics for 503 Mendeley readers of this research output. Click here to see the associated Mendeley record.

Geographical breakdown

Country Count As %
Spain 3 <1%
Brazil 3 <1%
Poland 2 <1%
United States 1 <1%
Unknown 494 98%

Demographic breakdown

Readers by professional status Count As %
Student > Bachelor 75 15%
Student > Master 66 13%
Researcher 47 9%
Student > Ph. D. Student 43 9%
Student > Postgraduate 42 8%
Other 84 17%
Unknown 146 29%
Readers by discipline Count As %
Medicine and Dentistry 129 26%
Biochemistry, Genetics and Molecular Biology 70 14%
Agricultural and Biological Sciences 63 13%
Nursing and Health Professions 20 4%
Neuroscience 13 3%
Other 48 10%
Unknown 160 32%
Attention Score in Context

Attention Score in Context

This research output has an Altmetric Attention Score of 74. This is our high-level measure of the quality and quantity of online attention that it has received. This Attention Score, as well as the ranking and number of research outputs shown below, was calculated when the research output was last mentioned on 05 August 2023.
All research outputs
#563,734
of 25,056,530 outputs
Outputs from Orphanet Journal of Rare Diseases
#49
of 3,019 outputs
Outputs of similar age
#873
of 83,804 outputs
Outputs of similar age from Orphanet Journal of Rare Diseases
#2
of 11 outputs
Altmetric has tracked 25,056,530 research outputs across all sources so far. Compared to these this one has done particularly well and is in the 97th percentile: it's in the top 5% of all research outputs ever tracked by Altmetric.
So far Altmetric has tracked 3,019 research outputs from this source. They typically receive more attention than average, with a mean Attention Score of 8.2. This one has done particularly well, scoring higher than 98% of its peers.
Older research outputs will score higher simply because they've had more time to accumulate mentions. To account for age we can compare this Altmetric Attention Score to the 83,804 tracked outputs that were published within six weeks on either side of this one in any source. This one has done particularly well, scoring higher than 98% of its contemporaries.
We're also able to compare this research output to 11 others from the same source and published within six weeks on either side of this one. This one has done particularly well, scoring higher than 90% of its contemporaries.