International Albinism Awareness Day: Symptoms, Causes, And Diagnosis Of Albinism
Albinism is an inherited disease and refers to a range of disorders that result from a reduction or absence of the pigment melanin.
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These vary in severity and often cause white skin, light hair, and vision problems. Melanin is the pigment which is responsible for the colouring of the skin, hair, and eyes. People with albinism often have lighter-coloured skin and hair than the other members of their family.
Albinism affects the sexes evenly, and all ethnic groups are susceptible. Its prevalence varies by region from 1 in 5,000 to 1 in 20,000. An estimated 1 in 70 people carry the genes associated with albinism.
Albinism is a genetic condition. Currently, there is no cure for albinism, but some symptoms can be treated. The most common cause of albinism is an interruption in the functioning of the enzyme tyrosinase. Melanin normally protects the skin from UV (ultraviolet) damage, due to the lack of melanin, people with albinism are more susceptible to the harmful effects of ultraviolet radiation exposure.
What are the symptoms of Albinism?
The primary symptoms of albinism include a change in colour of the skin, hair, eye, and vision.
- Skin: The most obvious sign is a lighter skin tone. In some people, levels of melanin slowly increase over time, darkening skin tone as the person ages. The patient diagnosed with albinism is likely to experience skin burn after being exposed to the sun for a brief period of time. After continued exposure to the sun, some people with albinism might even develop some skin problems such as freckles, moles, lentigines, large freckle-like spots.
Some people diagnosed with albinism are also prone to skin cancer. People with albinism should use sun protection cream of SPF 30 or higher to protect the skin.
2. Hair: People with albinism experience change in colour caused due to the absence of pigment melanin. As the patient ages, the hair colour slowly turns lighter to darker in shade.
3. Vision: Albinism always affects vision. Changes in eye function include nystagmus, strabismus, amblyopia, myopia or hypermetropia, photophobia, astigmatism. Vision problems related to albinism tend to get worst in new-borns but improve rapidly over the first 6 months of life.
What are the causes of Albinism?
Albinism results from a mutation in one of several genes. Depending on the mutation, the production of melanin can either be slowed or completely stopped. There are constant problems with the visual system. This is because melanin plays a vital role in the development of the retina and the optic nerve pathways from the eye to the brain.
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How many types of Albinism are there?
Albinism is fragmented into a number of subgroups which depends on the specific genes that are affected.
- Oculocutaneous albinism (OCA) is caused by a mutation in 1 of 4 genes. OCA is further divided into seven types depending on the mutations.
- X-linked ocular albinism: This type of albinism is caused by a gene mutation of the X chromosome. X-linked ocular albinism mainly affects males. They experience vision problems, but people who suffer from OCA generally have eye, hair, and skin colour in the normal range.
2. Hermansky-Pudlak syndrome: The symptoms for this syndrome are similar to oculocutaneous albinism; however, people with HPS are more likely to suffer from bowel, heart, kidney, and lung diseases or bleeding disorders, such as haemophilia.
3. Chediak-Higashi syndrome: This is a rare form of albinism, caused by a mutation in the CHS1/LYST genes. The symptoms for CHS are similar to oculocutaneous albinism but people with this syndrome experience change in hair colour as it appear silvery, and the skin turns slightly grey in colour.
4. Inheritance: Most types of albinism are inherited in an autosomal recessive inheritance pattern which means you inherit two mutated genes, one from each parent. The exception is X-linked ocular albinism. This is passed on in an X-linked inheritance pattern.
- Autosomal recessive inheritance
- X-linked inheritance
However, if the mother has an X-linked mutation, each daughter will have a 1 in 2 chance of becoming a carrier and each son will have a 1 in 2 chance of developing albinism.
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How is Albinism diagnosed?
The process of diagnosing albinism most often involves:
- Physical examination
- Discussion about skin and hair pigmentation changes
- Examination of the eyes by an expert (ophthalmologist)
- Comparing the individual's colour with that of family members
The most reliable way to diagnose albinism is by doing genetic testing. However, it is not always necessary in families with a history of albinism.
How is Albinism treated?
As the disease is genetic in nature, treatment focuses on minimising the symptoms and watching for changes.
- Getting the right care for eye problems is necessary which includes regular eye exams, using prescribed glasses, and dark glasses to protect the eyes from the sun.
- People should watch for any skin changes and use sunblock for protection.
Dr Rashmi Ravindra is consultant dermatologist, cosmetologist, and venereologist at BGS Gleneagles Global Hospital, Bengaluru.