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Albinism is a general term for a group of inherited disorders resulting from mutations in different genetic regions, leading to various types. The types of albinism are as follows:
Oculocutaneous Albinism (OCA): This is the most common type of albinism. A reduction in melanin synthesis affects the hair, skin, and eyes. Mutations responsible for this phenotype have been identified in at least 12 different genes.
Ocular Albinism: A less common type. It affects only the eyes; discoloration due to pigment loss is observed in the iris and fundus layers of the eye. The skin and hair color of patients with ocular albinism are generally normal.
Hermansky-Pudlak Syndrome: A rarer and more complex type of oculocutaneous albinism. It is characterized by additional health issues such as platelet-related bleeding disorders, pulmonary fibrosis, cardiomyopathy, kidney failure, and gingivitis.
Chediak-Higashi Syndrome: A rare type of oculocutaneous albinism that affects the immune system. It is associated with recurrent infections, bleeding disorders, and neurological problems.
What are the types of albinism?
Oculocutaneous Albinism (OCA): This is the most common type of albinism. A reduction in melanin synthesis affects the hair, skin, and eyes. Mutations responsible for this phenotype have been identified in at least 12 different genes.
Ocular Albinism: A less common type. It affects only the eyes; discoloration due to pigment loss is observed in the iris and fundus layers of the eye. The skin and hair color of patients with ocular albinism are generally normal.
Hermansky-Pudlak Syndrome: A rarer and more complex type of oculocutaneous albinism. It is characterized by additional health issues such as platelet-related bleeding disorders, pulmonary fibrosis, cardiomyopathy, kidney failure, and gingivitis.
Chediak-Higashi Syndrome: A rare type of oculocutaneous albinism that affects the immune system. It is associated with recurrent infections, bleeding disorders, and neurological problems.