Symptoms of albinism, three major categories to recognize

People with albinism, especially children, have extremely pale skin, yellow or white hair, and pale to yellow pupils. It makes people feel horrified at first sight. But in fact, their temperament is no different from that of ordinary people. Don't discriminate against them because of this.

People with albinism have milky white or pink skin and light white or yellowish hair. Due to the lack of melanin protection, the patient's skin is highly sensitive to light and is prone to sun spots and various photosensitive dermatitis after sun exposure. Basal cell carcinoma or squamous cell carcinoma may also occur. 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.

Albinism can be divided into two major groups. One is the more common oculocutaneous albinism, in which the body cannot produce melanin. Another type is albinism with an abnormal immune system, which is related to defects in melanin and other cellular proteins.

Albinism is divided into three categories based on clinical phenotypic characteristics:

1. Ocular albinism (OA)

The patient only has reduced or lacking eye pigment, with varying degrees of low vision, photophobia and other symptoms.

2. Oculocutaneous albinism (OCA)

In addition to symptoms such as eye pigment deficiency, poor vision, and photophobia, the patient's skin and hair also have obvious pigment deficiency.

3. Albinism-related syndromes

In addition to a certain degree of oculocutaneous albinism, the patient also has other abnormalities, such as Chediak-Higashi syndrome with immunosuppression and Hermansky-Pudlak syndrome with bleeding diathesis, which are relatively rare diseases.

Specific manifestations of albinism:

Ocular manifestations: The loss of pigment can cause the patient's iris to change color, usually blue or gray. The translucency of the iris allows a large amount of light to enter the eye, causing the patient to experience photophobia. At the same time, the scattering caused by a large amount of light makes it difficult for the patient to focus.

Extraocular manifestations: The patient's skin and hair appear white. Due to the lack of protection from melanin, the patient is prone to UV-induced skin cancer.