It results in the minimal production of melanin and commonly appears in people of East Asian descent. OCA6 has been reported in one family and one separate individual. 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 ir i s.
It produces symptoms similar to OCA. The syndrome occurs with lung, bowel, and bleeding disorders. It produces symptoms similar to OCA, but it may not affect all areas of the skin. There have been fewer than cases reported globally. The skin is usually creamy white to grayish. Hair is usually brown or blond with a silvery sheen. People with this syndrome have a defect in the white blood cells, increasing their risk of infections. Griscelli syndrome is an extremely rare genetic disorder.
There were only around known cases of this syndrome worldwide between and It occurs with albinism but may not affect the entire body , immune issues, and neurological issues. Griscelli syndrome usually results in death within the first decade of life. 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. 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.
These subdivisions include :. X-linked ocular albinism: This is caused by a gene mutation of the X chromosome. X-linked ocular albinism mainly affects males. Vision problems are present, but eye, hair, and skin color is generally in the normal range.
Hermansky-Pudlak syndrome: This rare variant is most common in Puerto Rico. The symptoms are similar to oculocutaneous albinism but bowel, heart, kidney, and lung diseases or bleeding disorders, such as hemophilia and more likely, too. Symptoms are similar to oculocutaneous albinism but hair can appear silvery, and the skin can look slightly gray.
There may be defects in the white blood cells, making infections more common. As research continues, more specific mutations may be discovered, helping us understand the underlying causes of albinism in more detail. Treatments mainly include taking care of the eyes and skin. People with albinism have an increased risk of developing skin cancer. To protect their skin, they can:.
Because the social scene can be more about fitting in than standing out, people with albinism may face bullying or prejudice. Voicing any frustration or sadness to a family member or friend who understands can help. So can talking to a counselor or therapist to get ideas on coping with any challenges.
Reviewed by: Amy W. Anzilotti, MD. Larger text size Large text size Regular text size. What Is Albinism?
Electrodiagnostic testing is also sometimes used to help diagnose albinism. This is where small electrodes are stuck to the scalp to test the connections of the eyes to the part of the brain that controls vision. Although there's no cure for the eye problems caused by albinism, there are a number of treatments, such as glasses and contact lenses, that can improve vision.
As a child with albinism gets older, they'll need regular eye tests , and it's likely they'll need to wear glasses or contact lenses to correct vision problems. Sunglasses, tinted glasses and wearing a wide-brimmed hat outside can help with sensitivity to light.
There's currently no cure for nystagmus where the eyes move from side to side involuntarily. However, it is not painful and does not get worse. Certain toys or games may help a child make the most of the vision they have. An ophthalmologist will be able to provide further advice. Surgery, involving dividing and then reattaching some of the eye muscles, may sometimes be an option. The main treatments for squints are glasses, eye exercises, surgery and injections into the eye muscles.
If your child has developed a lazy eye, they may benefit from wearing a patch over their "good" eye to encourage their other eye to work harder. Read more about treatments for squints. Because people with albinism lack melanin in their skin, they're at increased risk of getting sunburn and skin cancer. If you have albinism, you should wear sunscreen with a high sun-protection factor SPF. An SPF of 30 or more will provide the best protection.
Report these to a doctor as soon as possible.
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