Literature DB >> 6768477

Albinism in Nigeria with delineation of new recessive oculocutaneous type.

R A King, D Creel, J Cervenka, A N Okoro, C J Witkop.   

Abstract

Seventy-nine Nigerian oculocutaneous albinos were investigated. Fifty-six had typical tyrosinase-positive albinism (TPA) and 23 had brown albinism (BA), a new oculocutaneous type. The TPA were characterized by localized but no generalized skin pigment, yellow hair, blue to brown irides, nystagmus, and reduced or absent retinal pigment. Localized skin pigment included freckles and lentigines. The iris and skin pigment were the result of the slow accumulation of pigment with age as both were found in older individuals. The most severe skin changes were premalignant keratoses and squamous cell carcinoma of the skin, and the skin malignancies were the major factor in limiting the lifespan for TPA. The BA were characterized by generalized light brown skin pigment, light brown hair, blue to brown irides, nystagmus, and reduced retinal pigment. There was little accumulation or change of pigment in the eyes or skin with age. The generalized light skin pigment was effective in reducing sensitivity to solar radiation and very few BA had premalignant keratoses. Pedigree analysis for BA suggested on autosomal recessive inheritance pattern.

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Year:  1980        PMID: 6768477     DOI: 10.1111/j.1399-0004.1980.tb00145.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN: 0009-9163            Impact factor:   4.438


  13 in total

1.  Rufous oculocutaneous albinism in southern African Blacks is caused by mutations in the TYRP1 gene.

Authors:  P Manga; J G Kromberg; N F Box; R A Sturm; T Jenkins; M Ramsay
Journal:  Am J Hum Genet       Date:  1997-11       Impact factor: 11.025

2.  Mutation in and lack of expression of tyrosinase-related protein-1 (TRP-1) in melanocytes from an individual with brown oculocutaneous albinism: a new subtype of albinism classified as "OCA3".

Authors:  R E Boissy; H Zhao; W S Oetting; L M Austin; S C Wildenberg; Y L Boissy; Y Zhao; R A Sturm; V J Hearing; R A King; J J Nordlund
Journal:  Am J Hum Genet       Date:  1996-06       Impact factor: 11.025

3.  Hermansky-Pudlak syndrome: albinism with lipofuscin storage.

Authors:  W R Fagadau; M H Heinemann; E Cotlier
Journal:  Int Ophthalmol       Date:  1981-08       Impact factor: 2.031

4.  Vision in albinism.

Authors:  C G Summers
Journal:  Trans Am Ophthalmol Soc       Date:  1996

5.  In Southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.

Authors:  P Manga; J Kromberg; A Turner; T Jenkins; M Ramsay
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

6.  Prevalence and profile of ophthalmic disorders in oculocutaneous albinism: a field report from South-Eastern Nigeria.

Authors:  N N Udeh; B I Eze; S N Onwubiko; O C Arinze; E N Onwasigwe; R E Umeh
Journal:  J Community Health       Date:  2014-12

Review 7.  Was skin cancer a selective force for black pigmentation in early hominin evolution?

Authors:  Mel Greaves
Journal:  Proc Biol Sci       Date:  2014-02-26       Impact factor: 5.349

8.  Oculocutaneous albinism: identifying and overcoming barriers to vision care in a Nigerian population.

Authors:  N N Udeh; B I Eze; S N Onwubiko; O C Arinze; E N Onwasigwe; R E Umeh
Journal:  J Community Health       Date:  2014-06

Review 9.  Evolutionary genetics of skin pigmentation in African populations.

Authors:  Yuanqing Feng; Michael A McQuillan; Sarah A Tishkoff
Journal:  Hum Mol Genet       Date:  2021-04-26       Impact factor: 6.150

10.  Albinism in Africa as a public health issue.

Authors:  Esther S Hong; Hajo Zeeb; Michael H Repacholi
Journal:  BMC Public Health       Date:  2006-08-17       Impact factor: 3.295

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