What Is Oculocutaneous Albinism?

Eye skin albinism is a rare genetic disease. Eyes are gray, light brown, or reddish brown. The disease has been reported sporadically only in blacks and whites. Visual impairment is usually severe, and some patients have nystagmus. The lack of an oxidative enzyme, tyrosinase, which helps oxidize phenolic compounds to melanin, makes it impossible to produce melanin. Due to the lack of melanin, the patient's hair and skin are white.

Eye skin albinism

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Eye skin albinism is a rare genetic disease. Eyes are gray, light brown, or reddish brown. The disease has been reported sporadically only in blacks and whites. Visual impairment is usually severe, and some patients have nystagmus. The lack of an oxidative enzyme, tyrosinase, which helps oxidize phenolic compounds to melanin, makes it impossible to produce melanin. Due to the lack of melanin, the patient's hair and skin are white.

Chinese name

Eye skin albinism

Foreign name

Eye skin albinism

Explanation

Eyes are gray and light brown

Types of

Genetic disease

People with this disorder lack what is made in melanocytes

About 1 in 20,000, the incidence will be higher in close marriages, but most of them

The iris of the skin, hair, and eyes of the patient lacks pigment, so the skin and hair are extremely fair, and will not turn black when exposed to sun. The hair may gradually turn light yellow, and the eyes are red, which will be afraid of light and reduce visual acuity. There are often nystagmus and vision defects, and the fundus lacks pigmentation.

Clinically, ocular skin albinism type 1 is subdivided into two subtypes:
OCA IA: Can not produce tyrosinase, tyrosinase activity is completely lacking.
OCA IB: Reduced tyrosinase activity

As one

The child has poor vision, has short-sightedness and far-sightedness, and needs vision correction. Although some severe patients have been corrected, their vision is still within the range of legally blind people. They must receive special education for the visually impaired. Should pay attention to their vision, regular follow-up inspection at the ophthalmology.

Due to the lack of melanin protection, it is impossible to isolate the light, and the skin and eyes of children suffering from sunburn are extremely easy to cause skin cancer or optic nerve damage over time. Avoid direct sunlight or prolonged exposure to sunlight. Long sleeves, long pants, and wearing sunglasses or filters

When the child is about 3 years old, he can use stripes of different thicknesses in black and white or red and yellow to irritate his eyes; using facial expressions, sounds, and toys to tease him can help him stimulate the eyes. Nystagmus is currently uncorrectable and may not be effective. Seek the assistance of a child psychiatrist, participate in patient friendship or youth counselling groups for emotional support and care. ^[1]