Learn About Albinism

What is the definition of Albinism?

Albinism is a defect of melanin production. Melanin is a natural substance in the body that gives color to your hair, skin, and iris of the eye.

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What are the alternative names for Albinism?

Oculocutaneous albinism; Ocular albinism

What are the causes of Albinism?

Albinism occurs when one of several genetic defects makes the body unable to produce or distribute melanin.

These defects may be passed down (inherited) through families.

The most severe form of albinism is called oculocutaneous albinism. People with this type of albinism have white or pink hair, skin, and iris color. They also have vision problems.

Another type of albinism, called ocular albinism type 1 (OA1), affects only the eyes. The person's skin and eye color are usually in the normal range. However, an eye exam will show that there is no coloring in the back of the eye (retina).

Hermansky-Pudlak syndrome (HPS) is a form of albinism caused by a change to a single gene. It can occur with a bleeding disorder, as well as with lung, kidney, and bowel diseases.

What are the symptoms of Albinism?

A person with albinism may have one of these symptoms:

  • No color in the hair, skin, or iris of the eye
  • Lighter than normal skin and hair
  • Patches of missing skin color

Many forms of albinism are associated with the following symptoms:

  • Crossed eyes
  • Light sensitivity
  • Rapid eye movements
  • Vision problems, or functional blindness
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What are the current treatments for Albinism?

The goal of treatment is to relieve symptoms. It will depend on how severe the disorder is.

Treatment involves protecting the skin and eyes from the sun. To do this:

  • Reduce sunburn risk by avoiding the sun, using sunscreen, and covering up completely with clothing when exposed to the sun.
  • Use sunscreen with a high sun protection factor (SPF).
  • Wear sunglasses (UV protected) to help relieve light sensitivity.

Glasses are often prescribed to correct vision problems and eye position. Eye muscle surgery is sometimes recommended to correct abnormal eye movements.

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What are the support groups for Albinism?

More information and support for people with albinism and their families can be found at:

  • National Organization for Albinism and Hypopigmentation -- www.albinism.org
  • NIH Genetic and Rare Diseases Information Center -- rarediseases.info.nih.gov/diseases/5768/albinism
  • National Library of Medicine - MedlinePlus website. Ocular albinism. -- medlineplus.gov/genetics/condition/ocular-albinism/
What is the outlook (prognosis) for Albinism?

Albinism does not usually affect lifespan. However, HPS can shorten a person's lifespan due to lung disease or bleeding problems.

People with albinism may be limited in their activities because they can't tolerate the sun.

What are the possible complications of Albinism?

These complications can occur:

  • Decreased vision, blindness
  • Skin cancer
When should I contact a medical professional for Albinism?

Contact your provider if you have albinism or symptoms such as light sensitivity that cause discomfort. Also call if you notice any skin changes that might be an early sign of skin cancer.

How do I prevent Albinism?

Because albinism is inherited, genetic counseling is important. People with a family history of albinism or very light coloring should consider genetic counseling.

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What are the latest Albinism Clinical Trials?
Pirfenidone in the Treatment of Hermansky Pudlak Syndrome (HPS) - Related Interstitial Lung Disease (ILD)
Summary: This research study will explore the safety and efficacy of the drug, pirfenidone, in patients with a diagnosis of Hermansky-Pudlak Syndrome (HPS) who have an associated interstitial lung disease (ILD) over a planned period of 56 weeks.
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Genetic Analysis and Multimodal Retinal Imaging of Asymptomatic Fovea Plana Cases in the General Population
Summary: Albinism is a genetic condition, resulting from mutations in at least 19 known genes responsible for the production of melanin in the skin, hair and eyes.~Ophthalmological manifestations are a constant feature of this disease. Albinism is believed to be responsible for 5% of visual impairments worldwide and all albino patients have some degree of fovea plana. In the milder forms, it is a slightly ...
What are the Latest Advances for Albinism?
Method of surgical treatment of patients with oculocutaneous albinism using artificial iris.
Summary: Method of surgical treatment of patients with oculocutaneous albinism using artificial iris.
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Summary: The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
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Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
Summary: Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations.
Who are the sources who wrote this article ?

Published Date: November 01, 2021
Published By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Cheng KP. Ophthalmology. In: Zitelli BJ, McIntire SC, Nowalk AJ, eds. Zitelli and Davis' Atlas of Pediatric Physical Diagnosis. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 20.

Joyce JC. Hypopigmented lesions. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 672.

Paller AS, Mancini AJ. Disorders of pigmentation. In: Paller AS, Mancini AJ, eds. Paller and Mancini - Hurwitz Clinical Pediatric Dermatology. 6th ed. St Louis, MO: Elsevier; 2022:chap 11.