Albinism is a group of inherited diseases characterized by the absence of pigmentation in human skin, eyes, and hair. People with albinism, also known as congenital hypopigmented disorders, have a very pale complexion and are very sensitive to sun exposure; they also have vision problems. There are many types of albinism, none of which affect life expectancy . The symptoms of albinism are usually easy to treat. These disorders are very rare and tend to affect men and women equally.
Albinism is evident at birth. If you have a newborn with congenital hypopigmented disease, your baby should be healthy in every way, but you may need to take special precautions to protect his skin and eyes from the sun. It will also help you to prepare yourself and eventually yourself for the fact that others will be interested in your physical characteristics.
Types and signs
There are many different types of albinism, but the term generally refers to two: oculocutaneous albinism (OCA) and ocular albinism . There are three types of OCA, called OCA type 1, OCA type 2, and OCA type 3.
Each type of albinism is the result of a mutation in a specific gene on a specific chromosome , causing dysfunction of cells called melanocytes. These cells produce melanin or pigment that gives skin, hair, and eyes its color. In other words, it is melanin that determines whether a person is blonde or red, has blue or brown eyes, etc.
Albinism can occur on its own or as a symptom of certain diseases, such as Chediak-Higashi syndrome, Germanicus-Pudlack syndrome, and Waardenburg syndrome .
All types of albinism cause some pigment deficiency, but the amount varies:
- HCA type 1 generally means there is no pigmentation in the skin, hair, and eyes, although the pigmentation can be mild in some people. HCA type 1 also causes photophobia (photosensitivity), decreased visual acuity, and nystagmus (involuntary eye spasms).
- HCA type 2 is characterized by minimal to moderate pigmentation of the skin, hair, and eyes, as well as vision problems similar to those associated with HCA type 1.
- Sometimes HCA type 3 is difficult to identify just by its appearance. This is especially noticeable when a very light-colored child is born to dark-skinned parents. People with OSA type 3 often have vision problems, but these are generally less severe than people with OSA type 1 or 2 .
- Ocular albinism affects only the eyes, causing minimal pigmentation in them. The iris may appear translucent. Decreased visual acuity, nystagmus, and difficulty controlling eye movements may occur.
The disorder can be detected by genetic testing, but this is rarely necessary or common. The distinctive physical characteristics and symptoms of albinism are usually sufficient to diagnose the condition. Keep in mind that there can be big differences between people with albinism in how the condition affects the following people.
It can vary from very white to brown and, in some cases, it is almost the same as that of a parent or sibling. People with albinism of African or Asian descent may have yellow, reddish, or brown hair. Sometimes a person's hair darkens with age or due to exposure to minerals in water and the environment. The eyelashes and eyebrows are usually very pale.
The complexion of a person with albinism may or may not differ markedly from that of their immediate family members. Some people develop freckles, moles (including unpigmented pink ones), and large freckled spots called lentigo. They cannot usually tan, but they tan easily.
The color can vary from light blue to brown and can change with age. However, the lack of pigment in the iris prevents them from completely blocking the entry of light to the eye, so a person with albinism may appear red in the eyes under a little light.
The most troublesome feature of albinism is its effect on vision. According to the Mayo Clinic, problems can include:
- Nystagmus is a rapid, involuntary movement of the eyes back and forth.
- Shaking or tilting the head in response to involuntary eye movements to see better.
- Strabismus , in which the eyes are misaligned or cannot move together.
- Extreme myopia or hyperopia
- Photophobia (photophobia)
- Astigmatism is blurred vision caused by an abnormal curvature of the front surface of the eye.
- Abnormal development of the retina leading to visual impairment.
- Nerve signals from the retina to the brain that do not travel through normal nerve pathways.
- Poor depth perception
- Legal blindness (vision less than 20/200) or complete blindness
Living with albinism
There is no cure or cure for albinism, but skin sensitivity and vision problems require lifelong care.
Any treatment that a person with albinism may need for vision or vision problems will, of course, depend on their individual symptoms. Some people may need to wear corrective lenses and nothing else; others with severe vision problems may need support for the visually impaired, such as high-contrast or large print reading material, large computer screens, etc.
The skin can burn easily, increasing the risk of skin damage and even skin cancer. It is very important for people with albinism to use broad spectrum sunscreen and wear protective clothing outdoors to prevent skin damage from UV rays. Regular skin exams to detect cancer are very important. Also be sure to wear sunglasses.
Perhaps the most important problems that a person with albinism can face are related to misperceptions of the disorder. Children, in particular, may receive questions, stares, or, unfortunately, even experience bullying or prejudice from their peers.
Parents may want to work with a psychologist or therapist while their child with albinism is young to prepare for this problem. You can find a good source of information and support on living with albinism on the website of the National Organization for Albinism and Hypopigmentation .