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Symptoms, Causes, and Treatment of Albinism

Dr. Abhishtita Mudunuri

3 Min Read

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. Lack of colour in the skin, hair, and eyes is a rare hereditary disorder called albinism, which can occasionally result in vision impairment. Various gene mutations produce different forms of albinism. In this article, we will look into the symptoms, causes and treatment of 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.

Symptoms Of Albinism

People with albinism can develop the following symptoms:

symptoms, causes and treatment of albinism MFine - albino child 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 the 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 the 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.

Causes Of Albinism

Albinism is caused due to defects 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 parents have the defective gene, the child has a 25% chance of being normal, a 50% chance of being a carrier of the defective gene and a 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.

symptoms, causes and treatment of albinism MFine - albinism inherited disorder hereditary

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. Read on how to maintain healthy and glowing skin.

Visual problems are often in the spotlight in patients with this inherited disorder. Poor vision, photophobia, and squints are commonly come across in them. It can progressively lead to retinal damage and blindness in some.

Additionally, patients with albinism do have mental health implications due to societal pressures, and isolation from peers, co-workers, etc due to their different appearance and skin colour.

symptoms, causes and treatment of albinism MFine - sun rashes

Is there any treatment 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:

Use protective clothing, sunscreen and sunglasses to protect from sun’s UV rays. Do you want to know the most common sun diseases?
Eyeglasses to correct vision problems
Surgery for correction of squint (involves the repair of muscles causing abnormal eye movements)

International Albinism Awareness Day

This International Albinism Awareness Day which falls on 13th June, we must work towards understanding 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.

Summary

So this was all about the symptoms, causes and treatment of Albinism. 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

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Written by

Dr. Abhishtita Mudunuri

Dr. Abhishtita Mudunuri is an Internal Medicine Physician Diabetologist with over 10 years of experience in treating lifestyle disorders like Diabetes, Hypertension, Dyslipidemia, etc. She has worked previously at Columbia Asia, Sunshine Hospitals, and Apollo Group of Hospitals. Currently, she is working as a Senior Manager and Diabetologist at MFine.