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Condition

Albinism

Symptoms, Doctors, Treatments, Research & More

Condition 101

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.

What are the alternative names for Albinism?

Oculocutaneous albinism; Ocular albinism

What are the causes for 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 for 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

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.

What are the support groups for Albinism?

The following groups can provide more information and resources:

  • National Organization for Albinism and Hypopigmentation -- www.albinism.org
  • NIH/NLM Genetics Home Reference -- ghr.nlm.nih.gov/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 for Albinism?

These complications can occur:

  • Decreased vision, blindness
  • Skin cancer

When should I contact a medical professional for Albinism?

Call 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.

Melanin

REFERENCES

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. Hurwitz Clinical Pediatric Dermatology. 5th ed. Philadelphia, PA: Elsevier; 2016:chap 11.

Latest Research

Latest Advance
Study
  • Condition: Hermansky-Pudlak Syndrome
  • Journal: Seminars in respiratory and critical care medicine
  • Treatment Used: Pirfenidone and Lung Transplantation
  • Number of Patients: 0
  • Published —
The study researched the outcomes of Hermansky-Pudlak syndrome.

Clinical Trials

Clinical Trial
Biological
  • Status: Not yet recruiting
  • Study Type: Biological
  • Participants: 100
  • Start Date: September 1, 2020
Implementation of a Next-generation Sequencing Analysis of a Panel of Genes Implicated in Incomplete Forms of Albinism
Clinical Trial
Drug
  • Status: Not yet recruiting
  • Study Type: Drug
  • Participants: 50
  • Start Date: December 1, 2019
Pirfenidone in the Treatment of Hermansky Pudlak Syndrome (HPS) - Related Interstitial Lung Disease (ILD)