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Albinism refers to a collection of genetic disorders in which a person has partial or complete loss of pigmentation (or colour) in the skin, eyes and hair. This is caused by genetic mutations that affect the production of a pigment called melanin. 

(Read about melanin deficiency.)

There are several types of albinism depending on the type of mutation and how it is inherited. Broadly speaking, oculocutaneous albinism (OCA) affects the skin, eyes and hair and is more common. Ocular albinism (OA) is much less common, affects only the eyes and is seen almost exclusively in males.

Most commonly, albinism acts like an autosomal recessive disease. This means that both parents need to carry a copy of the mutation for the child to develop albinism. If both parents are carriers, there is a 25% chance the child will develop the condition and a 50% chance of being a carrier.

Depending on the type of albinism, the skin is extremely pale, and the hair white or light blonde. The lack of pigmentation in the eyes also means that the iris (the coloured part) is usually pale blue or brown. The pupils might appear red in some light conditions as the light entering is not absorbed by the iris and is reflected back from the retina, or the back of the eye.

Albinism will often lead to eye problems. Melanin plays a role in the development of the retina and the optic nerves, so its absence can lead to several disorders. The photoreceptors in the retina also get overstimulated since less light is absorbed by the iris, leading to further problems. 

Those with albinism are also more likely to develop various skin cancers and are also more likely to have accelerated skin aging. 

Albinism is a debilitating condition that can get worse with time if there are no interventions. Currently, there is no treatment to address the root of the condition, but genetic therapies are in the works. Treatment currently is aimed at managing symptoms and involves prescribing glasses or contacts for vision impairments, the use of low-vision aids and eye surgery if required. Since those with albinism get sunburn easily, they are advised to take better care of themselves in the outdoors by using adequate sunscreen protection, wearing protective clothing and seeking shade when possible. 

(Read more about blurred vision.)

Albinism does not in itself reduce lifespan and those with the disease can usually live normal lives. However, there is a higher likelihood of social isolation, depression and bullying. There has been a rise in awareness through NGOs and associations that address the social dimension of the disease and help those affected feel less alone. 

  1. Types of Albinism
  2. Albinism Symptoms
  3. Albinism Causes
  4. Diagnosis of Albinism
  5. Albinism Treatment and Management
  6. Doctors for Albinism

Types of Albinism

Oculocutaneous albinism (OCA) affects the skin, hair and eyes and is the most common type of the disease. Ocular albinism (OA) is less common and only affects the eyes. They are further divided into subtypes - here is a quick look at them: 

OCA1: This is the most common type and occurs because of a mutation in the enzyme tyrosinase. Tyrosinase is needed to convert amino acids into pigments. OCA1 is further divided into:

  • OCA1A in which the enzyme is completely inactive and no melanin is produced. People with this variation are extremely pale and have white hair.
  • OCA1B in which the enzyme can perform a limited amount of its functions. Some melanin is produced and people with this disorder will have slightly darker hair (no darker than light brown though) and slightly more pigmented skin.

OCA2: There is a mutation in OCA2 gene, which encodes the P protein that is one of cogs involved in the pigmentation process. People with this type are also able to produce slight amounts of melanin. This type is more common in the African continent as well. 

OCA3: This is a rare type of albinism that is more prevalent in those with darker skin. It is caused by a mutation in the TYRP1 gene which also plays a role in developing the building blocks of pigmentation. Pigmentation does occur in this subtype; the hair is of a reddish colour, and the eyes and skin are brown. 

OCA4: In this subtype, tyrosinase function is impaired because of a mutation in the protein SLC45A2. Some melanin production is possible; it manifests similarly to OCA2. 

OCA5-7: These are obscure variations of the disease and have not yet been extensively documented. They occur because of other variations along the formation or distribution of melanin across the body. 

Ocular albinism (OA): OA affects only the eyes, and mostly follows an X-linked inheritance pattern. Unlike OCA, OA is much more common in men since they only need one copy of the mutated gene to get the disease. If the mother has X-linked albinism, there is a 50% chance the son will inherit the disease. OA is caused by a mutation in the GPR 143 gene that plays a signalling role in the pigmentation of the eye.

(Read more about eye disorders.)

Other than this, there are other obscure metabolic disorders linked with albinism. These include Hermansky-Pudlak syndrome and Chediak-Higashi syndrome. There are bleeding issues with the former and neurological symptoms with the latter. These forms of the disease are more serious and complications associated with them often lead to shorter average lifespans.

Albinism Symptoms

Symptoms of albinism vary depending on the type of the condition, but it largely manifests in the following ways: 

  • Extremely pale, light skin 
  • White hair, eyebrows and eyelashes (some may have brown or red hair)
  • Light eyes that appear red in certain circumstances
  • Large freckles and moles
  • Nystagmus: An involuntary and rapid side-to-side movement of the eyes 
  • Squint or strabismus: Both eyes look in different directions and are not in synchronization with each other.
  • Repeated head bobbing and head movements
  • Refractive errors such as far sightedness and short sightedness 
  • Photophobia, or sensitivity to light 

There are many other ocular complications including being legally or permanently blind, poor depth perception, optic nerve, retinal and iris problems. These can lead to problems with learning, operating machinery and vehicles if they are not addressed in a timely manner. 

(Read more: Eye disorders)

Further, since the skin is more susceptible to disease and wear and tear, precautions need to be taken to protect it from overexposure to sunlight. Those with albinism are at an elevated risk of squamous cell and basal cell carcinoma.

(Read more: Skin cancer.)

Albinism Causes

Genetic mutations that influence the functioning of melanin lead to the development of albinism. Melanocytes, which are the cells responsible for the pigmentation of the eyes, hair and skin cannot function properly and are not able to transfer pigments to keratinocytes which are the cells that make up the majority of the epidermis, the visible part of the skin. 

In the most common type of OCA albinism, there is a mutation in the gene TYR that codes for the enzyme tyrosinase. Tyrosinase is used to convert amino acids into different pigments-- the mutation disrupts this process. 

Albinism is a genetic disorder, and it can occur in those with close family history. As mentioned above, albinism is most commonly inherited in an autosomal recessive pattern; both parents must carry mutated copies of the genes.

Diagnosis of Albinism

OCA albinism is easy to detect at birth. On observation, the baby will have less pigmentation when compared to its family. Genetic testing is required for an accurate diagnosis - it will reveal what type of mutation(s) caused the disorder, though lifelong treatment will likely remain unchanged. An ophthalmologist will be consulted to conduct an electroretinography to check for various vision problems and developmental issues with the retina. 

Skin biopsies and hair bulb extractions can also be conducted to check for melanin levels.

(Read more about biopsy.)

Albinism Treatment and Management

There is unfortunately no cure for albinism yet. However, clinical trials are looking into the scope of gene therapy to lead to some sort of a cure. For now, treatment is focused on managing symptoms that are caused by the lack of melanin activity. 

For those with eye and vision problems, eye tests will need to be conducted routinely to check for signs of deterioration. Glasses and contacts are prescribed to correct for short or long sightedness. Several low vision aids such as magnifying lenses, magnified text, large screens, reading aids or text to speech technology can be utilized to help with vision problems. Some practical steps such as setting close to the front in the classroom are helpful as well. Surgery for symptoms such as nystagmus may be recommended to reduce eye fluttering, but this is rare and often not needed. 

(Learn more: How to improve eyesight.)

Skin care is extremely important as well and is required to prevent various skin cancers and early aging. Sunscreens with an SPF of at least 30 should be used when stepping out, and it is highly advised to avoid being out in the sun when it is as its harshest. Frequent physical checkups will also be recommended to check for any growths that may be malignant. 

Those with albinism are likely to have vision problems they suffer from throughout life, but the social dimensions of the disorder is perhaps what causes the most grief. People with albinism may be singled out for their appearance and bullied. Their professional lives can suffer due to learning problems brought on by poor vision. Counselling and support groups, therefore, also play a key role in the management of the disorder.

Dr. Abhas Kumar

Dr. Abhas Kumar

प्रतिरक्षा विज्ञान

Dr. Hemant C Patel

Dr. Hemant C Patel

प्रतिरक्षा विज्ञान

Dr. Lalit Pandey

Dr. Lalit Pandey

प्रतिरक्षा विज्ञान

References

  1. NHS [Internet]. National Health Services; Albinism
  2. Genetic and Rare Diseases Information Center [Internet]. National Institutes of Health, U.S. Department of Health and Human Services Albinism
  3. Lisa Young, et al. Hermansky-Pudlak Syndrome Clin Chest Med . 2016 Sep;37(3):505-11. PMID: 27514596
  4. Jakob Ek, et al. Oculocutaneous albinism Orphanet J Rare Dis. 2007; 2: 43. PMID: 17980020
  5. C Summers. Albinism: Classification, Clinical Characteristics, and Recent Findings Optom Vis Sci . 2009 Jun;86(6):659-62. PMID: 19390472
  6. R A King, et al. Molecular Basis of Albinism: Mutations and Polymorphisms of Pigmentation Genes Associated With Albinism Hum Mutat . 1999;13(2):99-115.PMID: 10094567
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