The What to knows about it👌🏻
What is Albinism?
Albinism was first discovered by Sir Archibald Garrod, he assumed that it was caused by failure of an intracellular enzyme. Albinism is caused by a mutation in a gene called tyrosinase. The tyrosinase protein is needed to make melanin. But for albinos their tyrosinase genes do not produce enough protein to make melanin.
Signs and Symptoms
Signs of albinism are usually, but not always, apparent in a person's skin, hair and eye color. However, all people with the disorder experience vision problems.
In the skin:
- Many Freckles.
In the hair, the color can range from very white(blonde) or very brown. But the hair color may change by early adult hood.
Eye color can range from very light blue to brown and may change with age.
The lack of pigment in the colored part of the eyes (irises) makes them somewhat translucent. This means that the irises can't completely block light from entering the eye. Because of this, very light-colored eyes may appear red in some lighting. This occurs because you're seeing light reflected off the back of the eye and passing back out through the iris again — similar to the red-eye that occurs in a flash photo.
A person with albinism will have one of the following symptoms:
- Absence of color in the hair, skin, or iris of the eye
- Lighter than normal skin and hair
- Patchy, missing skin color
Many forms of albinism are associated with the following symptoms:
- Crossed eyes (strabismus)
- Light sensitivity (photophobia)
- Rapid eye movements (nystagmus)
- Vision problems, or functional blindness.