Albinism is an inherited disorder characterized by little or no production of the pigment, melanin. Furthermore, the type and amount of melanin the body produces are responsible for determining the color of skin, hair, and eyes. Usually, it is an autosomal recessive condition.
- Almost always, vision is affected by albinism. It comprises of problems such as:
– Rapid, involuntary back and forth movement of eyes (nystagmus)
– Inability of both eyes to stay directed at the same point or to move in unison due to muscle imbalance (strabismus)
– Extreme near- and far-sightedness (refractive error)
– Sensitivity to bright light and glare (photophobia)
– Abnormal curvature of lens, causing blurred vision (astigmatism)
– Abnormal development of retina before birth and during infancy (foveal hypoplasia)
– Interrupted optic nerve signals
- Skin may develop freckles, moles, lentigines, and increased tanning ability on exposure to sunlight.
- Hair color ranges from white to brown.
- Eye color ranges from light blue to brown. Moreover, it may alter with age. Also, lack of pigment in iris makes the eyes seem translucent.
CAUSES AND PREVALENCE
The condition albinism is caused due to a mutation in one of several genes. Each of these provides production of proteins involved in melanin production. Also, melanocytes are the cells which produce melanin. Usually, these cells are found in skin and eyes. Mutation leads to either decline in melanin amount, or none at all.
One in every 17,000 people suffer from some kind of albinism. Further, it can affect all ethnic groups.
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- Oculocutaneous albinism – Caused due to mutation in one of four genes. Several forms of OCA have been recognised.
– People with OCA 1 type have no or small amount of melanin. Usually, they have milky white skin, white hair and blue eyes. But people may also have blond or red hair and slightly more pigmented skin. Most often, it occurs in sub-Saharan Africans, African-Americans, and Native Americans.
– OCA 2 type exhibits hair color ranging from light blond to brown, blue-gray or tan eyes, and white skin. With sun exposure, skin may also develop freckles or moles. Most often, it occurs in sub-Saharan Africans, African-Americans, and Native Americans.
– OCA 3 type occurs in black South Africans mostly.
– Type 4 OCA mostly occurs in East Asian populations.
– OCA 5-7 forms came into recognition only in 2012. They are quite uncommon.
- X linked ocular albinism – Due to mutation in the X-chromosome, exclusively males suffer from vision problems. Generally, skin, hair, and eye colors are in the normal range.
- Hermansky-Pudlak syndrome – Due to mutation in one of at least eight different genes, this rare albinism occurs. It is most common in Puerto Rico. People may also have associated lung and bowel diseases, a bleeding disorder, or bruising.
- Chediak-Higashi syndrome – Due to mutation of LYST gene, this rare form of albinism occurs. Hair is usually brown or blond and skin is creamy white to grayish. Moreover, people also suffer from white blood cells defect, which leads to weakened immune system and increased risk of infection.
- Griscelli syndrome – GS is an extremely rare genetic disorder which occurs due to defect in one of the three genes. It usually results in death within the first decade of their lives.
Complications include skin disorders as well as social and emotional challenges.
- People with albinism are at a high risk of sunburn and skin cancer.
- Children with albinism often experience bullying, teasing, and name-calling.
- Additionally, people may feel like, or treated like outsiders.
Eventually, these factors lead to social isolation, poor self-esteem and stress.
A complete diagnostic work-up including a physical exam, thorough examination of exams, and comparison of pigmentation to others is usually performed. Sometimes, electro diagnostic testing is also performed.
After receiving positive results from the above stated tests, treatment is done. Moreover, due to albinism being a genetic disorder, the treatment methods available are limited.
- Annual eye exams by an ophthalmologist
- Surgery to correct nystagmus as well as strabismus
- Assessment of skin to screen cancer or lesions
Some lifestyle changes include:
- Using low vision aids like magnifying glasses, bioptics, and monocular
- Applying sunscreen
- Avoiding high-risk sun exposure in the middle of the day
- Wearing protective clothing
- Protecting eyes by wearing sunglasses
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