What is albinism? It turns out this is what causes it

Many people may have heard of albinism, which causes the patient to have an unattractive appearance. But for people with albinism, they not only have to endure the pain brought by the disease but also have to endure the strange looks from others, which causes serious harm to their body and mind. This is not fair to them. So how does albinism occur?

Albinism is caused by a genetic abnormality that controls tyrosinase, a congenital metabolic abnormality with defective melanin production. It is an autosomal recessive genetic disease and a single gene genetic disease (tyrosinase can convert tyrosine into melanin). Melanin, which is missing in albinos, is produced in pigment cells called melanocytes. Human pigment cells are mainly found in the skin, hair follicles and eyes. Their normal function is closely related to the activity of tyrosinase. This is because tyrosine is the raw material for the formation of melanin, and tyrosinase is needed as the locomotive to catalyze a series of biochemical reaction steps. Since the production process of melanin is quite complicated, it often involves lesions of other organ systems, such as abnormalities in the direction of optic nerve fibers, bleeding tendency, immune abnormalities and waxy lipid accumulation (a rare fatty lesion). However, except for optic neuropathy, others are quite rare. This reflects that genes control metabolic processes by controlling the synthesis of enzymes, thereby controlling the characteristics of organisms.

The patient has no retinal pigment, the iris and pupil are light pink, and is afraid of light. The skin, eyebrows, hair and other body hair are white or yellowish white. Albinism is a familial hereditary disease, which is an autosomal recessive inheritance and often occurs among people who marry close relatives. Genetic map of albinism: Both parents of the patient carry the albinism gene, but the patient himself does not develop the disease. If both husband and wife pass the disease-causing genes they carry to their children, their children will become sick. Ocular albinism is an X-linked recessive trait. The disease only occurs when the albinism gene carried by the mother is passed on to her son, but not to her daughter.

Patients with albinism often suffer from photocheilitis, telangiectasia, and some develop solar keratosis, and may develop basal cell carcinoma or squamous cell carcinoma. Due to the lack of pigment in the eyes, the irises are pink or light blue, and symptoms such as photophobia, tearing, nystagmus and astigmatism are common. Most people with albinism have poor physical and intellectual development.