Oculocutaneous albinism: an African perspective

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منابع مشابه

Oculocutaneous albinism

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 b...

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Oculocutaneous albinism type 2

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular, and pilar pigmentation from the time of birth. Oculocutaneous albinism types I and II are the most common, with several other types described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous ...

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Distribution of oculocutaneous albinism in Zimbabwe.

A survey of 1.3 million schoolchildren in Zimbabwe identified a total of 278 pupils with oculocutaneous albinism (OCA), giving a prevalence of 1 in 4728. Pupils with OCA were identified in every province of the country, but the distribution was not even. In certain areas, notably the capital, Harare, and the eastern province of Manicaland, the frequency was significantly higher than in others. ...

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Oculocutaneous albinism in an isolated Tonga community in Zimbabwe.

Oculocutaneous albinism (OCA) is a recessively inherited genetic condition prevalent throughout sub-Saharan Africa. We now describe a cluster of tyrosinase positive OCA (OCA2) cases belonging to the Tonga ethnic group living in the Zambezi valley of northern Zimbabwe. The prevalence in this region was 1 in 1000, which is four times higher than that for the country as a whole. The gene frequency...

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Refractive errors in Cameroonians diagnosed with complete oculocutaneous albinism

BACKGROUND Albinism causes significant eye morbidity and amblyopia in children. The aim of this study was to determine the refractive state in patients with complete oculocutaneous albinism who were treated at the Gynaeco-Obstetric and Paediatric Hospital, Yaoundé, Cameroon and evaluate its effect on vision. METHODS We carried out this retrospective study at the ophthalmology unit of our hosp...

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ژورنال

عنوان ژورنال: British and Irish Orthoptic Journal

سال: 2014

ISSN: 2516-3590

DOI: 10.22599/bioj.78