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Aug 27, 2010 · Albinism: Caught Between Dark and Light. ABC News. 17.7M subscribers. Subscribed. 2.2K. 257K views 14 years ago. Part 1: African-American fraternal twin brothers separated only by skin color.
- 7 min
- 257.4K
- ABC News
Jun 22, 2019 · Lesson on Albinism. The genetic condition known as albinism is more aptly known as oculocutaneous albinism due to its ocular and cutaneous manifestations. An individual with albinism is...
- 10 min
- 125.7K
- JJ Medicine
Aug 24, 2018 · Oscar Duke, an NHS doctor with albinism heads to Tanzania and Malawi to discover what life is like for other people with the same genetic condition. Whilst in East Africa, Oscar explores the ...
- 59 min
- 3.7M
- Banijay Documentaries
- Overview
- What causes albinism?
- What are the types of albinism?
- What are the symptoms of albinism?
- How is albinism diagnosed?
- Is there a treatment for albinism?
- What’s the long-term outlook?
Albinism is a rare genetic condition that causes the lack of pigment in skin, hair, and eyes, sometimes accompanied by visual impairment. Different types of albinism are caused by various gene mutations.
According to the National Organization for Albinism and Hypopigmentation, about 1 in 18,000 to 20,000 people in the United States have a form of albinism. Read on to learn more.
Albinism is an inherited disorder that’s present at birth. Children have a chance of being born with albinism if both of their parents have albinism or both of their parents carry the gene for albinism.
The cause of albinism is a defect in one of several genes that produce or distribute melanin, the pigment that gives skin, eyes, and hair their coloring. The defect may result in the absence of melanin production or a reduced amount of melanin production.
For most types of albinism, both parents must carry the gene in order for their child to develop the condition. Most people with albinism have parents who are only carriers of the gene and don’t have symptoms of the condition.
Other types of albinism, including one that only affects the eyes, mostly occur when a birthing parent passes the gene for albinism on to a child assigned male at birth.
Oculocutaneous albinism (OCA)
OCA affects the skin, hair, and eyes. Around 1 in 70 people have a mutation in an OCA gene. There are several subtypes of OCA.
Ocular albinism
Ocular albinism is the result of a gene mutation on the X chromosome and occurs almost exclusively in males. People with ocular albinism have reduced coloring in the retina and iris. The condition doesn’t affect the skin or hair.
Hermansky-Pudlak syndrome
Hermansky-Pudlak syndrome is a rare form of albinism that’s caused by a defect in one of 10 genes. It produces symptoms similar to OCA. The syndrome occurs with lung, bowel, and bleeding disorders. It’s more common in Puerto Rico.
People with albinism will have the following symptoms:
•an absence of color in the skin, hair, or eyes
•lighter than normal coloring of the skin, hair, or eyes
•patches of skin that have an absence of color
Albinism occurs with vision problems, which may include:
•strabismus, or crossed eyes
The most accurate way to diagnose albinism is through genetic testing to detect defective genes related to albinism.
Less accurate ways of detecting albinism include an evaluation of symptoms by a doctor or an electroretinogram test. This test measures the response of the light-sensitive cells in the eyes to reveal eye problems associated with albinism.
There’s no cure for albinism. But treatment can help relieve symptoms and prevent sun damage.
Treatment may include:
•sunglasses to protect the eyes from the sun’s ultraviolet (UV) rays
•protective clothing and sunscreen to protect the skin from UV rays
•prescription eyeglasses to correct vision problems
•surgery on the muscles of the eyes to correct abnormal eye movements
Most forms of albinism don’t affect a person’s life expectancy.
Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, and Griscelli syndrome do affect life expectancy. This is because of the health problems associated with the syndromes. These syndromes are all very rare.
Albinism affects the production of melanin, the pigment that colours skin, hair and eyes. It's a lifelong condition, but it does not get worse over time. People with albinism have a reduced amount of melanin, or no melanin at all.
Nov 10, 2023 · Albinism is a genetic condition that causes a person to produce little or no melanin. It leads to a lack of color in the skin, hair, and eyes, as well as vision problems. Learn more.
People also ask
Is albinism a genetic condition?
What does albinism look like?
What causes albinism?
Why do people with albinism lack pigmentation?
Does albinism get worse over time?
Why do people with albinism have to limit their outdoor activities?
Albinism is caused by a fault in one of the genes involved in the production of melanin or the products used to make it. Melanin is important for healthy eye development - without it, the retina and optic nerve (which sends visual information from the retina to the brain) may not develop properly.
