Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals.
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| - Albinisme oculocutané (fr)
- Oculocutaneous albinism (en)
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| - Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals. (en)
- L'albinisme oculocutané comprend un ensemble de maladies génétiques de transmission autosomique récessive ayant comme point commun une anomalie de la synthèse de la mélanine atteignant soit l'œil soit la peau soit les deux et s'accompagnant ou pas de troubles associés. Les maladies entrant dans ce cadre sont :
* Albinisme oculocutané type I
* Albinisme oculocutané de type II
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* Syndrome de Hermansky-Pudlak (fr)
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| - Oculocutaneous albinism is a form of albinism involving the eyes (oculo-), the skin (-cutaneous), and the hair.Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes.Seven types of oculocutaneous albinism have been described, all caused by a disruption of melanin synthesis and all autosomal recessive disorders. Oculocutaneous albinism is also found in non-human animals. (en)
- L'albinisme oculocutané comprend un ensemble de maladies génétiques de transmission autosomique récessive ayant comme point commun une anomalie de la synthèse de la mélanine atteignant soit l'œil soit la peau soit les deux et s'accompagnant ou pas de troubles associés. Les maladies entrant dans ce cadre sont :
* Albinisme oculocutané type I
* Albinisme oculocutané de type II
*
*
* Syndrome de Hermansky-Pudlak (fr)
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| - Oculocutaneous Albinism Type 1 (en)
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| - Oculocutaneous Albinism Type 1 (en)
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