Albinism

1 What is Albinism?

Albinism is a genetic disorder characterized by little or no production of melanin, the pigment that gives color to skin, hair, and eyes.

The signs and symptoms of this disorder are present from birth. The color of the hair and skin of the affected person depend on the amount of melanin present in their body.

People with albinism may also have eye problems. Albinism increases the risk of sun burn and skin cancer.

There is no treatment for albinism, but proactive measures help to prevent eye and skin problems. It affects people of all races.

There are two major types of albinism – oculocutaneous albinism and ocular albinism.

Oculocutaneous albinism affects the skin, hair, and eyes, while ocular albinism mainly affects the eyes.

Skin and hair can show normal coloration in ocular albinism.

2 Symptoms

Color changes in skin, hair, and eyes are the most common symptoms of albinism.

All people who are affected by this genetic disorder have vision problems. The color of the skin ranges from white to light brown.

In some cases, the skin color may resemble that of their parents.

Exposure to sun may result in moles, freckles, and freckle-like spots called lentigines.

Hair color ranges from white to brown. Eye color can be light blue to light brown.

As the irises are barely colored, stray light is not screened and gives a red tinge in some lighting.

The major symptoms of vision problems are:

  • Nystagmus – shaking or involuntary movements of the eyes
  • Strabismus – misalignment of the eyes
  • Photophobia – sensitivity to bright light
  • Refractive error – short-sightedness, far-sightedness, or astigmatism
  • Decreased vision – the central part of retina is not well developed

3 Causes

Albinism is caused by a lack of the pigment melanin, which gives hair, skin and eyes their colour.

Albinism is a genetic disorder and is inherited from parents.

Children with albinism get one gene from each parent. Parents may have normal pigmentation as they are solely carriers of the genes.

The genes are responsible for the production of the skin pigment, melanin so the gene mutation may result in little or no production of melanin, affecting the color of skin, hair, and eyes.

Vision problems result from the abnormal development of the optic nerve pathways. Abnormal development of the retina also leads to vision issues.

There are different types of oculocutaneous albinism based on the type of gene mutation.

4 Making a Diagnosis

Thorough physical examination is the definitive diagnostic procedure for albinism.

A complete eye examination is important to check for major symptoms like strabismus, nystagmus, refractive errors, and photophobia.

Tests are also done to check abnormal development of the retina.

Vision problems are a confirmatory diagnostic symptom for albinism.

5 Treatment

There is no complete treatment for Albinism.

Proper care of the eyes and skin are important to prevent complications.

Annual eye checkups are also important, particularly for children.

Nystagmus can be reduced by surgery. Surgery may not be effective with improving vision in the case of strabismus.

Thorough skin examinations for lesions and patches are important to reduce the chance of skin cancer.

Misalignment of the eye can be treated with glasses. Glasses are also recommended to reduce photosensitivity and photorefractive errors.

The type of optical aid may vary from person to person.

Genetic counseling of the affected person and family is also important.

6 Prevention

As Albinism is genetic disorder, there is no way to prevent it.

Genetic counseling helps to understand the chances of having a child with albinism, if the parents are carriers of mutated gene.

Genetic tests are available to check for genes that result in this disorder.

7 Alternative and Homeopathic Remedies

There are several 

Eye exercises and optical aids help in reducing the symptoms of vision problems.

Herbal and natural oils are suggested to reduce photo sensitivity.

Red raspberry oil is used to provide sun protection.

Herbal oil moisturizing mixtures and carrot seed oil are also known to protect the skin from harmful sun rays.

8 Lifestyle and Coping

There are different ways to adapt your lifestyle in coping with Albinism.

Visual aids are useful for enhancing vision.

Family and friends can make a huge difference in deciding the lighting, optical aids and social and emotional growth of the child affected by this disorder.

As these children are prone to sun burn and skin cancer, special care should be taken to avoid excessive exposure to sun.

Support groups help in gathering information regarding the disorder. It also helps to deal with feelings about the disorder.

9 Risks and Complications

Sunburn and skin cancer are the most serious complications associated with albinism.

Children affected by this disorder may feel depressed or be socially isolated. It can also lead to poor self-esteem.

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