Definition

Albinism, also known as an albino, is a condition in which an individual is unable to produce melanin, the pigment responsible for colouring the skin, hair, and eyes. The term "albino" originates from the Latin word "Albus," meaning white. Melanin also plays a crucial role in the development of the optic nerve, which is why people with albinism often have vision problems.

Causes

Humans have 23 pairs of chromosomes, which are structures made of nucleic acids and proteins that carry genetic information. These include 22 pairs of autosomes (which regulate body cells) and 1 pair of gonosomes (which determine sex and related hormones). Gonosomes consist of X and Y chromosomes, with females having two X chromosomes (XX) and males having one X and one Y chromosome (XY). Chromosomes have locus, which are specific positions of genes on chromosomes. Within the locus, some alleles can provide genetic information in a gene. Each person has two alleles from each parent. These alleles can be dominant (produce traits) or recessive (do not produce traits and are defeated by the dominant allele).

Albinism is a congenital condition, meaning it is present from birth. It is categorized into several types based on the inheritance patterns and affected genes:

Oculocutaneous Albinism (OCA):

• The most common type of albinism, OCA, is inherited in an autosomal recessive manner. This means that both alleles in the gene responsible for pigment production are recessive, often due to mutations. There are seven types of OCA, labeled OCA1 to OCA7. This type affects the skin, hair, and eyes, leading to reduced pigmentation and vision problems. The degree of pigmentation varies depending on the type.

Ocular Albinism:

• This form of albinism is limited to the eyes, causing vision impairment. The most common type is Ocular Albinism Type 1 (OA1), caused by a mutation on the X chromosome, making it more prevalent in males. Ocular albinism is much rarer than oculocutaneous albinism.

Syndrome-Related Albinism:

• Some syndromes are associated with albinism, such as Hermansky-Pudlak Syndrome, which includes symptoms similar to OCA, along with bleeding disorders, lung disease, and intestinal issues. Chediak-Higashi Syndrome also presents with OCA-like symptoms and additional immune, neurological, and recurrent infection problems.

Risk factor

The primary risk factor for albinism is having a family history of the condition. Individuals may carry the gene for albinism without exhibiting symptoms themselves due to the presence of a dominant gene that still regulates melanin production.

Symptoms

Albinism is most easily recognized by the appearance of white hair and pale skin that is significantly lighter than that of siblings. The symptoms of albinism can be categorized into three areas: skin symptoms, hair and eye color, and vision.

Skin symptoms are often triggered by sun exposure and may include:

• Red spots on the face
• Moles, which may or may not contain pigment; non-pigmented moles appear pink
• Large freckles or spots (lentigines)
• Skin that burns easily and is unable to tan

Hair color in individuals with albinism can range from white to brown, with people of Asian or African descent possibly having yellow, red, or brown hair. Hair color may darken over time due to environmental factors such as mineral exposure. Eyebrows and eyelashes are typically pale, and eye color can vary from very light blue to brown. Due to a lack of melanin, the iris may not fully block light, sometimes giving the eyes a reddish appearance.

Meanwhile, eye and visual symptoms are experienced by all individuals with albinism and include:

• Involuntary eye movements (nystagmus)
• Crossed eyes (strabismus)
• Severe nearsightedness or farsightedness
• Sensitivity to light (photophobia)
• Astigmatism, which causes blurred vision due to the curvature of the eye's surface or lens

Diagnosis

The most accurate way to diagnose an albino is to do a genetic test. Albino also causes visual problems, so you can be referred to an eye specialist for further diagnosis. Another examination can be in the form of an electrodiagnostic test, which is used to test the relationship between the eye and the brain that regulates the vision.

Management

Albinism cannot be cured, as it is an inherited condition. However, treatment focuses on managing symptoms and preventing skin damage from sun exposure. Treatment options may include:

• Sunglasses to protect the eyes from ultraviolet (UV) light.
• Wearing Long-sleeved clothing and using sunscreen with a high SPF to shield the skin from UV light.
• Using glasses to address visual impairments.
• In some cases, surgery on the eye muscles may be performed to correct abnormal eye movements.

Complications

Albinism can lead to complications affecting the skin, eyes, and cause social and emotional complications. Individuals with albinism are at a higher risk for skin cancer due to increased sensitivity to sunlight. Vision problems can also hinder learning, working, and driving, impacting daily life. People with albinism may face social challenges, such as being ostracized, bullied, or frequently questioned about their appearance and visual aids. They may also feel isolated or different from family or ethnic group members, potentially leading to low self-esteem, stress, and isolation.

Prevention

If you have a family history of albinism, consulting a genetic counselor can help you understand the specific type of albinism and the risk of passing it on to your children.

For those with albinism, preventing sunburn and skin cancer is crucial. It is recommended to use sunscreen with at least SPF 30 and to monitor the skin for changes, such as:

• The appearance of new moles, growths, or bumps
• Alterations in the shape, color, or size of existing moles or spots

If any of these changes are observed, it is important to see a doctor, as early detection of skin cancer greatly improves treatment outcomes.

When to see a Doctor?

If you have recently had a child, your doctor will check for any abnormalities, including differences in hair and skin color, which may indicate albinism. If such differences are noticed, your doctor will likely refer your child for an eye exam and will continue to monitor changes in skin color and vision over time.

If you observe signs and symptoms of albinism in your child, it is important to consult a doctor. Additionally, if your child with albinism experiences frequent nosebleeds, is prone to injury, or gets infections easily, these could be signs of Hermansky-Pudlak or Chediak-Higashi Syndrome—rare conditions associated with albinism. In such cases, seeking medical advice is crucial.

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