Albinism is a group of very rare congenital disorders leading to hypopigmentation or achromasia, or to put it in simpler terms- the disorders can lead to the skin, hair and eyes having little or no colour.
What causes albinism?
Albinism is caused due to defect in the genes associated with the production of melanin- the pigment responsible for the normal colour of the skin, hair and eyes. The defect in the gene can interfere with the production of melanin and also the production of tyrosinase enzyme, which is essential for melanin production.
Who is at risk of developing albinism?
Albinism is an inherited disorder. It is usually autosomal recessive, which means if both the parents have the defective gene, the child has 25% chance of being normal, 50% chance of being a carrier of the defective gene and 25% chance of getting albinism. Some types of albinism that only affect the eyes can be X-linked recessive, meaning that mothers can pass it on to their sons.
What are the symptoms?
People with albinism can develop the following symptoms:
- Skin & hair: Light coloured skin- white or pink sometimes associated with freckles, pink/red naevi or spots. Solar keratosis may occur due to the lack of the melanin pigment which protects the skin from harmful UV rays from the sun. White/yellow/light coloured hair over scalp and skin over the rest of the body, including eyebrows and eyelashes.
- Eyes: Albinism can lead to light coloured iris- blue/light brown and sometimes pink/red.
Additionally, it is associated with nystagmus (a rapid abnormal movement of eyes back and forth), strabismus (squint) and impaired visual acuity. There may be photophobia due to scattering of light inside the eyes, hence causing extreme pain and sensitivity one exposure to light. The disorder is also associated with retinal damage and poor vision.
What are the downsides of having this inherited disorder?
Due to the decrease in melanin production, people with albinism are often prone to skin problems caused due to exposure to harmful UV rays of sunlight. This can lead to skin rashes and painful sunburns. They are also prone to developing skin cancers.
The visual problems are often in the spotlight in patients with this inherited disorder. Poor vision, photophobia, squints are commonly come across in them. It can progressively lead to retinal damage and blindness in some,
Is there any cure to get rid of albinism?
This disorder is diagnosed by careful examination of the skin, hair and eyes. In some cases, genetic testing can also be performed. However, there is no cure for albinism. The following measures can, however, improve the life of an albino patient:
- Using protective clothing, sunscreen and sunglasses to protect from sun’s UV rays.
- Eyeglasses to correct vision problems
- Surgery for correction of squint (involves the repair of muscles causing abnormal eye movements)
This International Albinism Awareness Day which falls on 13th June, we must work towards to understand this congenital disorder and offer companionship and help to those who may have this disease. A small act of inclusive support can come a long way in the lives of patients with albinism. If you know someone suffering from albinism, you can take an extra step by encouraging them to consult a skin specialist or eye specialist in order to keep their disorder in check.
MFine provides online consultations with dermatologists and ophthalmologists at affordable costs, which is beneficial especially during this pandemic when stepping into hospitals for non-emergency reasons may not be advised. If you know someone in your family suffering from skin conditions similar to albinism, encourage them to consult with doctors on MFine. #ConsultOnline #HarGharMeinDoctor