Symptoms of Albinism

Little or no color in the skin, hair, and eyes due to a defect in the production of melanin is referred to as albinism. People with this inherited disorder are sensitive to sunlight and are at an increased risk for developing skin cancer. Let's have a look at the causes and types of this disorder before we go onto its symptoms.

Causes and Types of Albinism

Humans have certain genes that contain the chemically-coded instructions for making one of many several proteins that are responsible for the production of melanin. In case of a mutation of one of these genes, melanin production is either too little or completely non-existent. This is what is called albinism and in such people, cells called melanocytes, found in the skin and eyes, are not able to produce enough melanin.

Albinism is basically classified on the basis of the mutated gene that causes the disorder. Following are the main types of albinism:

Oculocutaneous albinism is caused due to a mutation in one of four genes and results in symptoms related to vision, skin, hair, and iris color.

1.     Oculocutaneous albinism 1 is caused due to a mutation in a gene on chromosome 11 and results in   milky white skin, white hair, and blue eyes at birth.
2.     Oculocutaneous albinism 2 is caused due to a mutation in a gene on chromosome 15 and results in yellow, auburn, or red hair, blue-gray or tan eyes, and white skin at birth.
3.     Oculocutaneous albinism 3 is caused due to a mutation on chromosome 9 and leads to reddish-brown skin, reddish hair, hazel or brown eyes in South Africans.
4.     Oculocutaneous albinism 4 occurs due to the gene mutation on chromosome 5 and is mostly found in people of Japanese descent.

X-linked ocular albinism occurs mostly in males and is characterized by vision problems typical of this disorder, however, the color of their skin, hair, and eyes are generally normal.

Hermansky-Pudlak syndrome is characterized by the symptoms of oculocutaneous albinism along with lung and bowel diseases and a bleeding disorder.

Chediak-Higashi syndrome also has signs and symptoms of oculocutaneous albinismm, however, people with this disorder also have a defect with white blood cells.

Symptoms of Albinism

The signs and symptoms of albinism are usually related to the skin, hair, and eye color of the individual and include the following:

•     Skin pigmentation which is usually milky white
•     Freckles due to sun exposure
•     Moles
•     Large freckle-like spots called lentigines
•     Tendency to tan easily
•     Hair color that can range from white to brown and may change by early adulthood
•     Light blue to brown color of the eye that may change with age
•     Lack if pigment in the iris that makes them look translucent
•     Involuntary and rapid back-and-forth movement of the eyes
•     Both eyes cannot stay directed at the same point or cannot move together
•     Nearsightedness or farsightedness that is extreme in nature
•     Photophobia or sensitivity to light
•     Astigmatism, which is characterized by blurred vision

Since albinism is a genetic disorder, treatment options are limited. However, reducing exposure to sunlight, using sunscreen, wearing sunglasses and prescription glasses will help in relieving the symptoms of this inherited disorder.

Sensitivity to light can be a significant problem of albinism, and therefore using some quality window shades that don't block 100% of the light, such as bamboo roman shades, can help increase the comfort of albinos according to Michael Lincoln, medical researcher.

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