overview
The term albinism generally refers to oculocutaneous albinism (ok-u-low-ku-TAY-nee-us) (OCA) – a group of hereditary diseases in which little or no melanin pigment is produced. The type and amount of melanin your body produces determines the color of your skin, hair, and eyes. Melanin also plays a role in the development of optic nerves, so people with albinism have vision problems.Albinism Treatment Hyderabad
- Signs of albinism are usually seen in a person’s skin, hair, and eyes color, but sometimes the differences are small. People with albinism are also sensitive to the effects of the sun, which puts them at increased risk of developing skin cancer.
- Although there is no cure for albinism, people with this disorder can take steps to protect their skin and eyes, and to maximize their eyesight.
symptom
The signs and symptoms of albinism affect the skin, hair, color, and vision of the eyes.Albinism Treatment Hyderabad
- skin
The best known form of albinism is white hair and very light skin compared to siblings. Skin color (pigmentation) and hair color can range from white to brown and can be almost the same as that of parents or siblings without albinism. - When exposed to the sun, some people can develop:
- Freckles
Moles with or without pigment – Moles without pigment are usually pink in color
Large freckled spots (lentigines)
Sunburn and inability to tan
In some people with albinism, the pigmentation of the skin never changes. For others, melanin production may begin or increase in childhood and adolescence, causing slight changes in pigmentation.
The reasons
Autosomal recessive inheritance model
Autosomal Recessive Inheritance PatternOpen Context Dialog
Several genes provide instructions for making one of the many proteins involved in melanin production. Melanin is made by cells called melanocytes, which are found in the skin, hair, and eyes.
- Albinism is caused by a mutation in one of these genes. Different types of albinism can occur, mainly depending on the gene mutation that is causing the disorder. The mutation can result in the absence of melanin at all or a significantly reduced amount of melanin.Albinism Treatment Hyderabad
prevention
If a family member has albinism, a genetic counselor can help you understand the type of albinism and the chances of having a future child with albinism. It can also explain the tests available.Albinism Treatment Hyderabad