{"id":12325,"date":"2024-10-11T23:32:45","date_gmt":"2024-10-11T21:32:45","guid":{"rendered":"https:\/\/valintermed.com\/?p=12325"},"modified":"2024-10-11T23:32:45","modified_gmt":"2024-10-11T21:32:45","slug":"okulokutannyy-albinizm-tip-1","status":"publish","type":"post","link":"https:\/\/valintermed.com\/en\/medlibrary\/okulokutannyy-albinism-type-1\/","title":{"rendered":"Oculocutaneous albinism type 1"},"content":{"rendered":"
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Oculocutaneous albinism type 1 (OCA1) is a genetic disorder characterized by pigmentation disorders of the skin, hair, and eyes. The underlying cause of this condition is a laminated absence or deficiency of the enzyme tyrosinase, which is needed to synthesize melanin, the pigment responsible for skin and hair color. Due to the lack of melanin, people with oculocutaneous albinism have fair skin and hair, as well as specific eye problems such as photophobia and decreased visual acuity. OCA1 is classified into two subtypes based on the presence of residual tyrosinase activity: type 1A, which is completely devoid of activity, and type 1B, with partial residual activity that can affect the degree of pigmentation.<\/p>\n

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