Albinism

What is albinism?

Albinism is a condition in which people have little or no melanin pigment (compound that creates color) in your eyes, skin or hair. Because of this, people with albinism look a little different from other members of their family without albinism. They have very light skin, which is prone to sunburn, their hair is white or a very light color, and they can squint a lot since their eyes are sensitive to sunlight.

Classification of albinism.

There are two main categories of albinism: oculocutaneous and ocular albinism.

Oculocutaneous

• It involves dilution of hair, skin and eye color.
• The most common form of albinism.

Ocular

• Melanin pigment is missing mainly in the eyes, while skin and hair appear normal or only slightly lighter
• It represents 10-15% of all cases of albinism.

Oculocutaneous albinism (OCA) forms a group of different types of albinism based on specific albinism gene involved. Oculocutaneous albinism type 1 and type 2 are the most common types of oculocutaneous albinism.

OCA 1A

• Absent tyrosinase exercise
• Eyes: bluish gray, reduced visual acuity
• Hair: white at birth, may turn yellow over time
• Skin: white, moles are notpigmented

OCA 1B

• Reduced tyrosinase activity
• Variable dilution of skin and hair pigment.
• Temperature sensitive subtype

OCA 2OCA 2 mutation (formerly P gene)

• Variable dilution of skin and hair pigment.
• Over time, develop solar lentigines on the sunexposed skin
• Prader-Willi and Angelman Associates (chromosome 15)

OCA 3TYRP 1 mutation

• Reduced eumelanin synthesis
• Rufous/red and brown subtypes

OCA 4SLC45A2 mutation (formerly MAPT)

• Similar to OCA 2
• Most common type in Japan, China and India

Prenatal Testing for OCA is available at some centers.

Other less common types of albinism include:

• Hermansky-Pudlak syndrome
• cross syndrome
• Chediak-Higashi syndrome

• Griscelli syndrome.

How do you get albinism?

Albinism is mainly a recessive hereditary disease, which means two albinisms. genes They are inherited (one from each parent). If the patient's parents are only carriers of albinism (each with one albinism gene and one normal gene), they will have enough genetic information to make normal pigment and will not show any signs of albinism.

Who is at risk for albinism?

Albinism occurs throughout the world and affects people of all races. Both men and women can have the condition, although ocular albinism primarily occurs in men.

About 1 in 70 people have a gene for albinism. Couples who carry the recessive albinism gene have a 1 in 4 chance of producing a child with albinism.

What are the problems associated with albinism?

The main problems of albinism are caused by the body's inability to produce melanin pigment (whose main function in the skin is to absorb UV sunlight so that the skin is not damaged by the sun). It also has a role in the development of normal eye vision. Having white or light colored hair due to lack of melanin is nothing to worry about, however, lack of melanin in the skin and eyes can cause the following problems:

skin problems

• Burns easily in the sun
• Greater chance of contracting skin cancer, mainly scaly cell carcinomas

Eye problems

• Impaired vision: Although you are not blind, your vision is impaired and may not be completely corrected with glasses. There are various degrees of myopia or hyperopia.
• Photophobia: sensitivity to light or glare
• Nystagmus: involuntary movement of the eyes from side to side.
• Strabismus: the eyes do not fixate and track together
• Retinal involvement: This is an important area of the eye as it is responsible for sending signals to the brain. The altered transmission of signals causes various vision disorders.

Other, less common types of albinism may also involve problems with blood clotting, immunodeficiency, or problems with hearing.

A concern that should not be overlooked is the risk of isolation in people with albinism. People with albinism, especially children, should receive normal treatment and be included in all activities. They develop normally and have normal intelligence, it is a myth that people with albinism have mental problems or intellectual problems.

What treatment or precautions can be taken?

It is important for people with albinism to protect themselves from UV exposure and avoid the damaging effects it can have on the skin.

• Methods to avoid the sun
  • Wear protective clothing (long sleeves and pants, collared shirts, tight fabrics that do not let light through), hats (with wide brims), and glasses (specially designed to protect against UV rays)
  • Use broad-spectrum sunscreens with SPF 50 or higher: apply to all exposed areas
• Have frequent skin examinations by someone who has been taught to recognize skin signs Cancer.

Because the patient has little or no pigmentation, skin cancers will often have little or no pigmentation. Patients with albinism should immediately report suspicious spots or growths to a doctor.

Specialized eye doctors cannot cure eye problems, but they can help with various optical aids to improve the vision of people with albinism.