Albinizmus
Albinizmus is a group of inherited conditions characterized by a deficiency or absence of melanin pigment in the skin, hair, and eyes. The most common form is oculocutaneous albinism (OCA), which affects the skin, hair, and eyes, but a non-skin form called ocular albinism (OA) affects the eyes more than the skin. In albinizmus, melanin production is disrupted due to mutations in genes that control tyrosinase activity and other enzymes involved in melanin biosynthesis. Most cases are inherited in an autosomal recessive pattern, though X-linked forms also exist (notably some ocular albinism types).
Clinical features include very light skin and hair, and pale or light-colored eyes with reduced pigment in
Diagnosis is based on clinical examination of skin, hair, and eyes and family history, often supported by
Management focuses on reducing sun damage and supporting vision. This includes strict sun protection (sunscreen, protective
Prognosis is not curable, but life expectancy is generally normal with appropriate care. The condition remains