Congenital leukopenia syndrome

Chediak-Higashi syndrome is a kind of autosomal recessive genetic disease. This disease is a congenital lysosomal abnormality, and the pathogenesis is not very clear. It is more common in the offspring who are married to close relatives. Mainly manifested as a lack or reduction of melanin in the skin, hair and eyes of the whole body. Lesions confined to the eyes and skin are called oculocutaneous albinism (OCA), and those confined to the eye are called ocular albinism (OA). With photophobia and nystagmus; part of the skin and hair are albino, like pseudoalbino.