Albinism is a rare genetic condition marked by little to none of the pigment melanin, which is responsible for the color in hair, skin, and the irises of the eyes. This results in a range of very pale skin, hair, and eyes. While it does not impact intelligence or lifespan, albinism comes with certain medical complications, such as vision problems and light sensitivity, as well as social challenges. Albinism affects people from all races worldwide. About 1 in every 17,000 to 20,000 people in the world has it, though its prevalence varies greatly by population and type.e60dc2a1-f33c-4a05-9b50-8e3e8e5976291112361d-db33-4cdd-bdc0-f6dee8e59d66
Types of Albinism Types There are two main types of albinism: Oculocutaneous Albinism (OCA) The most common type of albinism, OCA affects the skin, hair, and eyes. There are many subtypes of OCA (OCA1 through OCA7), which are caused by different genetic changes resulting in specific pigmentation features. Ocular Albinism (OA) Far less common than OCA, OA primarily affects the eyes. A person with OA may have similar coloring or slightly lighter skin, hair, and eye color than their family members, but eye exams will reveal no coloring in the retina (the light-sensitive tissue in back of the eye).e60dc2a1-f33c-4a05-9b50-8e3e8e59762969cfa70b-f787-4a9b-93c7-885b038cea74
Signs and Symptoms of Albinism Symptoms While the lack of pigment can affect the skin and hair, it most severely affects the eyes. Without melanin, the retina and optic nerves, which help relay information from the eyes to the brain, may not develop properly, causing a wide range of eye and vision problems that are not completely correctable with glasses: Nystagmus, a regular horizontal back-and-forth movement of the eyes Strabismus (misaligned eyes), where the eyes are facing in different directions Sensitivity to bright light or glare (photophobia) Refractive errors, especially astigmatism but also nearsightedness and farsightedness Reduced depth perception Blurry or distorted vision, with vision acuity ranging from 20/25 to 20/400 Additionally, without melanin, the skin becomes sensitive to sunlight and burns easily. How albinism affects the particular color or tone of your skin, hair, and eyes (if at all) depends on the type of OCA you have and how much melanin your body produces:e60dc2a1-f33c-4a05-9b50-8e3e8e597629d02cab64-c6c2-43d4-8b24-e89a2ba65f41 OCA1-A A complete absence of melanin; white skin and hair and very light-colored irises that may appear pink or red due to the way that light reflects off the blood vessels in the retina OCA1-B “Yellow OCA”; creamy to tan skin with light birthmarks and freckles, yellow to light brown hair, and eyes that are blue, green, hazel, or light brown OCA2 Creamy white or tan skin, often with birthmarks and freckles; yellow, blond, or light brown hair; and blue, hazel, brown, or gray eyes OCA2-Brown Brown skin, hair, and eyes that are relatively lighter in shade compared with family members OCA3 Brown to reddish brown (copper) skin, ginger (red to reddish yellow) hair, and hazel or light brown eyes OCA4 Similar to classic OCA2 OCA5 White skin and golden hair OCA6 Similar to OCA4, with light skin and hair that darkens with age OCA7 Light blond to dark brown hair with skin that appears lighter only when compared with family members
Causes and Risk Factors of Albinism Causes Albinism is caused by mutations in genes responsible for melanin production. Oculocutaneous albinism is inherited in an autosomal recessive pattern, meaning a child must inherit a mutated gene from both parents to develop it. The mutated genes associated with OCA include the following:e60dc2a1-f33c-4a05-9b50-8e3e8e59762987415968-acdf-4610-baaf-d51e19bc15ed TYR (OCA1) OCA2 (OCA2) TYRP1 (OCA3) SLC45A2 (OCA4) SLC24A5 (OCA6) LRMDA (OCA7) There is no gene associated with OCA5. Ocular albinism is X linked, meaning the inherited gene — GPR143 — is located on the X chromosome and passed from mothers (who carry it without having albinism) to their sons.e60dc2a1-f33c-4a05-9b50-8e3e8e597629e7dde4d6-030a-473c-8182-490db96d09a8
How Is Albinism Diagnosed? Diagnosis Albinism’s effects on skin, hair, and eye color may be evident at birth, allowing healthcare providers to diagnose the condition early. However, families may not always be aware of pigmentation differences if they are not in stark contrast with other family members. Most often, caregivers and providers suspect albinism only after eye- or vision-related symptoms become apparent.e60dc2a1-f33c-4a05-9b50-8e3e8e5976293f746a61-9b26-4d55-929f-085f62876c97 To diagnose albinism, your provider will look for telltale signs of it with a physical exam and thorough eye exam. An ophthalmologist will also inspect your retina for signs of abnormal development.e60dc2a1-f33c-4a05-9b50-8e3e8e5976299623e8b6-6612-433c-a626-5a7377959412 Diagnosis of albinism typically includes a review of your medical and symptom history. This important step helps rule out or suggest genetic syndromes like Hermansky-Pudlak and Chediak-Higashi syndromes. Both genetic conditions feature albinism along with various other symptoms.e60dc2a1-f33c-4a05-9b50-8e3e8e59762984587bf5-f5aa-482a-872e-c46f64de4ba6 Your provider may also order genetic tests, which are the most accurate diagnostic tool for albinism and the only way to determine what specific type of albinism you have.
Treatment and Medication Options for Albinism Treatment There is no cure for albinism. Treatment focuses on managing symptoms and reducing risks of complications.e60dc2a1-f33c-4a05-9b50-8e3e8e597629c4a97067-5a32-4041-acd6-188f06c5356b Prescription glasses can help correct refractive errors, improve visual acuity, and reduce light sensitivity to some degree (though even with corrective lenses, vision may never fully normalize). Bifocals and low-vision aids such as handheld magnifiers may help, too. Nystagmus may naturally decrease over time. It’s possible to adjust your head posture to reach the nystagmus null point, the position at which the abnormal eye movement is at a lower intensity than in other directions of gaze. In severe cases, some people benefit from eye muscle surgery to shift the null point to a more natural position. Surgery can also help correct strabismus.e60dc2a1-f33c-4a05-9b50-8e3e8e597629f912be02-f120-4df3-aa89-5a27dfb7a296 There are no approved medications for treating albinism, but researchers are investigating a few options. A small pilot study suggested that the drug nitisinone (Nityr, Orfadin) can increase melatonin production in people with OCA1-B. Most study participants showed a slight darkening of their skin and hair, but no apparent changes in their eye melanin or visual acuity.e60dc2a1-f33c-4a05-9b50-8e3e8e597629b54b808d-e270-475b-9cb7-73f2ec3f8400 And a study in mice found that the amino acid L-DOPA (levodopa) can help support retinal development in newborns with albinism when given within 15 days of birth.e60dc2a1-f33c-4a05-9b50-8e3e8e5976291b2e506a-0dbb-44e4-8f2f-ac507001deb9
Prevention of Albinism Prevention Because albinism is a genetic condition, there is no way to prevent it. However, genetic counseling can help families understand the risks of passing it on to children.
Lifestyle Changes for Albinism Lifestyle Changes Routine eye and skin care — especially limiting sun exposure and getting regular eye and skin exams — is vital if you have albinism. You’ll also benefit from these aids: Corrective lenses Dark, UV-protective sunglasses or transition lenses Wide-brimmed hats to reduce overhead glare and provide sun protection for the face Sun-protective clothing, such as long-sleeve shirts and long pants, with SPF 15 or more (synthetic materials like polyester block ultraviolet radiation better than natural fibers)e60dc2a1-f33c-4a05-9b50-8e3e8e59762993c943af-d23d-4e4b-a54b-fc58ab867cd3 Broad-spectrum sunscreen with SPF 30 or higher, applied liberally at least every two hours when in the sune60dc2a1-f33c-4a05-9b50-8e3e8e5976295d967593-2937-4028-9620-62efa503d12f Classroom aids can help children with albinism learn better in school: High-contrast written and digital material with large texte60dc2a1-f33c-4a05-9b50-8e3e8e5976295158e673-dcee-4421-859c-1e1de31fbd31 Magnifying and telescoping lenses Audio recordings of instructions Beneficial seating (front of the class) and lighting arrangementse60dc2a1-f33c-4a05-9b50-8e3e8e59762923491303-8bbe-4a3c-8132-4da78188f3e8 Copies of the teacher’s notes Additionally, peer support groups can help both children and adults deal with feelings of isolation, learn positive attitudes and coping skills, and gather valuable resources and information about albinism.
How Long Does Albinism Last? Prognosis and Outlook Albinism is a lifelong condition, but it does not get worse over time.
Complications of Albinism Complications Complications of albinism include the following: Sunburns Increased risk of skin cancer Educational delays due to vision issues that make reading difficulte60dc2a1-f33c-4a05-9b50-8e3e8e597629053aa416-4af9-4065-bae1-5853c6436361 Inability to drive due to legal blindness Social stigma and discrimination
Research and Statistics: Who Has Albinism? Research and Statistics The prevalence of albinism differs depending on population and type. Approximately 1 in 70 individuals carry a mutated gene for OCA, with OCA2 being the most common genetic cause worldwide. In the United States, 1 in every 36,000 people have OCA2, and it is most common in people with African ancestry, affecting 1 in 10,000 people. Oculocutaneous albinism tends to be more common in consanguineous populations — those that allow relationships between blood relatives — such as in certain areas of Africa. And one type, OCA7, has only been found in the Faroe Islands and in Denmark.e60dc2a1-f33c-4a05-9b50-8e3e8e597629187bd60b-efd9-415b-a334-11c31fd9339d About 1 in 50,000 people are born with OC around the world.e60dc2a1-f33c-4a05-9b50-8e3e8e5976296ba4ee13-d48b-42f2-a982-f1388edb94c2
Related Conditions Albinism Related Conditions Albinism may also be a feature of a genetic syndrome: Hermansky-Pudlak syndrome, which causes increased bleeding (from platelet dysfunction) and issues with the immune system and various organse60dc2a1-f33c-4a05-9b50-8e3e8e5976296868f4ea-6f16-43ba-867c-1b6680475e36 Chediak-Higashi syndrome, which causes recurrent infections, coagulation defects, and a form of nerve damage called peripheral neuropathy e60dc2a1-f33c-4a05-9b50-8e3e8e597629e696895d-e793-4c5a-b56a-edf46dfd5725 Angelman syndrome, which causes developmental problems, issues with walking and balance, and severe speech impairment, as well as an overall excitable and happy demeanor despite these challengese60dc2a1-f33c-4a05-9b50-8e3e8e597629ad006521-0e77-475f-8def-e82e6c759129e60dc2a1-f33c-4a05-9b50-8e3e8e597629e87477aa-4fd9-483a-b67a-a3db9a8082e3 Prader-Willi syndrome , which causes developmental problems, musculoskeletal abnormalities, and hyperphagia (an intense desire to eat that can lead to obesity and type 2 diabetes)e60dc2a1-f33c-4a05-9b50-8e3e8e59762925a29f3c-a456-4a9a-9ea6-1d887ad062ab Albinism may occur in Angelman syndrome or Prader-Willi syndrome because these conditions can be caused by a deletion of the region of chromosome 15 that contains the OCA2 gene. The Takeaway Albinism is a genetic condition that affects pigmentation and vision but does not impact intelligence or lifespan. While albinism can be a challenging condition to live with, various treatments and lifestyle changes can help prevent complications and improve quality of life. With the right medical care, sun protection, and supportive communities, people with albinism can lead full, healthy lives.
Resources We Trust Mayo Clinic: AlbinismCleveland Clinic: Eye ColorsVision for Tomorrow Foundation: Support Navigating AlbinismNational Organization for Albinism and Hypopigmentation: Social Aspects of AlbinismAmerican Association for Pediatric Ophthalmology and Strabismus: Identifying Genetic Eye Disease in Children
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