What Is Ocular Albinism?

Albinism is a type of hereditary white spot disease caused by a lack of melanin or synthesis disorders in the skin and accessory organs caused by tyrosinase deficiency or hypofunction. The patient's retina was unpigmented, and the iris and pupils were pale pink, afraid of light. Skin, eyebrows, hair and other body hair are all white or yellowish white. Albinism is a hereditary disease of the family, it is an autosomal recessive inheritance, and often occurs in people who are married to close relatives. Genetic map of albinism: Both parents of the patient carry the albinism gene and do not develop the disease. If both spouses carry the disease-causing genes to their children at the same time, the children will get sick. Eye albinism is an X-linked recessive inheritance. It is caused when the albinism gene carried by the mother is passed on to the son. It is usually not transmitted to the daughter.

Basic Information

English name

albinism

Visiting department

dermatology

Common causes

Close marriage

Common symptoms

The patient's body was milky or pink, and her hair was pale white or pale yellow

Albinism classification

Albinism can be divided into two major groups. One is the more common eye and skin albinism, and the body cannot produce melanin. The other 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. Eye Albinism (OA)

Patients only have reduced or deficient eye pigments, and have varying degrees of low vision and photophobia.

2. Eye skin albinism (OCA)

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

3. Albinism-related syndrome

In addition to patients with a certain degree of ocular skin albinism, there are other abnormalities, such as Chediak-Higashi syndrome with immunocompromised function and Hermansky-Pudlak syndrome with hemorrhagic quality, which are rare.

Clinical manifestations of albinism

Albinos have milky or pink skin and pale or yellowish hair. Due to the lack of melanin protection, the patient's skin is highly sensitive to light, and sunburn and various light-sensitive dermatitis are prone to occur after sun exposure. Can occur in basal cell carcinoma or squamous cell carcinoma. Due to lack of pigment in the eyes, the iris is pink or light blue, and often has symptoms such as photophobia, tears, nystagmus and astigmatism.

Albinism test

1. Genetic examination, tumor marker examination.

2. Histopathological examination.

Albinism diagnosis

Can be diagnosed based on congenital disease and clinical manifestations. There are pure white or pink spots at birth, and dermatitis easily occurs after sun exposure, and the hair becomes white or yellowish; pink iris, red pupils, and photophobia. Histopathology showed that there were clear cells in the basal layer, and the number and appearance were normal. Silver staining confirmed a lack of melanin in the epidermis.

Albinism treatment

At present, drug treatment is ineffective, and only physical methods can be used to minimize the damage to the eyes and skin caused by ultraviolet radiation. You can also use light-sensitive drugs, hormones and other treatments to weaken or even disappear white spots. In addition, we need to pay attention to the psychological problems of albinism patients. In addition to symptomatic treatment of albinism, there is currently no cure for it. It should be based on prevention. It is forbidden to marry close relatives through genetic counseling. Prenatal genetic diagnosis can also prevent the birth of children with this disease.