How is albinism detected

Albinism is an inherited disease characterized by a substantially lower rate of melanin production. People with albinism often have lighter colored skin and hair than the other members of their family or ethnic group. Vision problems are common. Melanin normally protects the skin from UV ultraviolet damage, so people with albinism are more sensitive to sun exposure. There is an increased risk of skin cancer. The most obvious sign is a lighter skin tone, but skin tone does not always differ substantially.

In some people, levels of melanin slowly increase over time, darkening skin tone as the person ages. The skin will likely burn easily in the sun. It does not usually tan.

There is also a higher risk of skin cancer. People with albinism should use sun protection cream of SPF 30 or higher and report any new moles or other skin changes to a doctor. This can range in color from white to brown. Those of African or Asian descent tend to have yellow, brown, or reddish hair. Low levels of melanin in the iris mean that the eyes can appear slightly translucent and, in certain light, look red or pink as the light reflects off the retina at the back of the eye.

The lack of pigment prevents the iris from fully blocking sunlight. This results in a sensitivity to light, known as photosensitivity. Albinism always affects vision. Changes to eye function can include :. Strategies that may help include :. Vision problems related to albinism tend to be worst in newborns but improve rapidly over the first 6 months of life. However, problems with eye health are likely to persist. Albinism results from a mutation in one of several genes. One in 70 people are thought to carry the gene for albinism.

The genes in question are responsible for various aspects of the production of melanin by melanocytes in the skin and eyes. Regardless of the amount of interference with melanin production, there are always problems with the visual system.

This is because melanin plays a vital role in the development of the retina and the optic nerve pathways from the eye to the brain.

Albinism is split into a number of subgroups depending on the specific genes that are affected. Oculocutaneous albinism OCA : This is caused by a mutation in 1 of 4 genes. OCA is further split into seven types depending on the mutations. Surgery can be used to correct squint, which may improve the appearance of the eyes. However, surgery cannot improve eyesight or depth binocular vision. Eye specialists usually start to treat squint in infants of about 6 months of age.

They may recommend a patch over one eye, or the wearing of glasses. Surgery can also help reduce nystagmus. People with albinism may find ways of reducing nystagmus while reading, such as placing a finger by the eye, or tilting the head at an angle where nystagmus is reduced. Sunglasses or tinted contact lenses may help with light sensitivity. Indoors, it is important to place lights for close work over a shoulder rather than in front.

Some people with albinism use glasses which have small telescopes mounted on, in or behind their regular lenses bioptics. This enables them to look through either the regular lens or the telescope. Some patients wear contact lenses with a special iris tint. Various classroom aids help children with albinism High-contrast written material with large text can help children to read: black on white high-contrast material is the easiest to read. Because children with albinism often have difficulty keeping track of their place on the page if copying text, it may help to allow them to write in the textbook.

Audio tapes may be helpful. Computers with large text display will make reading easier. Giving the child copies of the teacher's notes may be useful; sometimes magnifying devices can also be helpful. People with albinism are very susceptible to burning and subsequent skin cancers. High-factor sun protection cream and avoidance of sunlight are essential. In tropical countries, people with albinism may not have access to adequate skin protection and may develop life-threatening skin cancers.

They need to use sunscreens rated 20 SPF or higher, together with opaque clothing, in order to enjoy outdoor activities in summer. Children with albinism can experience difficulty with bullying and social relationships because their condition is so visible.

They look different from their families, friends and other members of their ethnic group. In some ethnic groups the difference may be dramatic, especially within communities of colour, where the race or paternity may be questioned.

Support of family and friends and contact with other affected people can be helpful. In some countries such as China albinism is considered bad luck, leaving people with albinism ostracised and excluded from mainstream society. Life expectancy is normal for a person with albinism.

Although vision is usually severely impaired, intellect and development are normal. People with albinism have an increased risk of sunburn and of skin cancers as their skin is not protected by pigment. Gene testing can be used to determine if a fetus has albinism. Amniocentesis is performed at 16 to 18 weeks of gestation in pregnancy. Those considering testing of this sort should be made aware that, whilst children with albinism are usually severely visually impaired, they function well and have a normal lifespan.

Woke up with a black spot in left eye in center of vision. This content does not have an Arabic version. Diagnosis Diagnosis of albinism is based on: A physical exam that includes checking skin and hair pigmentation A thorough eye exam Comparison of your child's pigmentation to that of other family members Review of your child's medical history, including whether there has been bleeding that doesn't stop, excessive bruising or unexpected infections.

More Information Eye exam. Request an Appointment at Mayo Clinic. Share on: Facebook Twitter. Show references Albinism. Genetic and Rare Diseases Information Center. Accessed Nov. American Association for Pediatric Ophthalmology and Strabismus. Merck Manual Professional Version. Wright TS. The genodermatoses. Oculocutaneous albinism.