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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Albinism and Some Key Facts

Albinism also known as achromia, is an eye disorder which has complete or partial absence of pigment in the skin, eyes and sometimes hair. This is due to the absence of enzyme that is involved in the production of melanin. Albinism generally occurs due to the inheritance of recessive gene allies and also affects vertebrates of humans. An organism where there is complete absence of melanin is known as albino while an organism where there is diminished amount of melanin is described as albinoid. Albinism leads to a number of vision defects like photophobia, nystagmus and astigmatism. Albinism can occur from lack of skin pigmentation which makes the organism sunburn and cancerous. Albinism can be classified into 2 categories, they are as follows:

In oculocutaneous albinism the pigment is lacking in the eyes, hair and skin. People with oculocutaneous albinism do not have pigment in normal levels for a rather pale Caucasian.

In ocular albinism only the eye portion does not have any pigment. People who are having ocular albinism, they have normal skin and hair colour but they are quite lighter than either parent.

Most albinism appeared to be white or very pale in human face as the melanin pigments are responsible for brown, black, and yellowish colour in your face, and due to albinism it remains absent. Individuals having albinism have skins that are partially or sometimes entirely lack the dark pigment melanin that helps to protect the skin form the ultraviolet rays from the sun. People having albinism skins have a tendency that their skin burns very quickly from over exposure. The albinisms are generally as healthy as the rest of the population as the growth and development occurs normally. The albinism does not cause mortality although the absence of pigmentation is responsible for blocking the ultraviolet rays and increases the risk of skin cancer and various other problems.

It is the presence of melanin that leads to the development of optical system and the reduction of pigment in albinism in individual which may lead to reduction of visual acuity due to foveal hypoplasia. It may also lead to photophobia and reduction of visual acuity which occurs due to the scattering within the eye. It may also lead to abnormal decussation of the optic nerve fibres if the retinogeniculate projections get misrouted. Some eye problems that are common and occur during albinism are as follows:

Nystagmus is an irregular and rapid movement of the eyes which goes in a circular motion.

Amblyopia reduces in acuity to both the eyes and sometimes one even due to poor transmission to the brain.

Some of the visual problems which are associated with albinism generally arise from a poorly developed retinal pigment epithelium (RPE) because of absence of melanin. This degenerate RPE are responsible for causing foveal hypoplasia that resulted into excentric fixation and reduced visual acuity. Eventually the improper development of RPE which in normal eyes absorbs most of the ultraviolet rays and increase the glare scattered within the eye.

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