Albinism is a rare genetic condition that causes a lack of pigment in the skin, hair, and eyes. There are several different types of albinism, each with their own set of characteristics. The rarest type of albinism is oculocutaneous albinism, or OCA. OCA affects both the eyes and the skin, and is caused by mutations in several different genes.
Signs and Symptoms of OCA
People with OCA typically have very pale skin, light-colored hair, and light-colored eyes. They may also have vision problems, including poor vision in dim light and sensitivity to bright light. Other common symptoms include easy sunburns, nystagmus (rapid eye movements), and poor depth perception.
Causes of OCA
OCA is caused by mutations in several different genes, most commonly the OCA1, OCA2, and OCA3 genes. These mutations affect the production of the pigment melanin, which is responsible for the normal coloration of the skin, hair, and eyes.
Diagnosis of OCA
OCA is diagnosed through physical examination, family history, and genetic testing. A physical examination will look for pale skin, light-colored hair, and light-colored eyes. Family history will help to identify if the condition has appeared in other family members. Genetic testing can confirm the diagnosis.
Treatment of OCA
There is no cure for OCA, but there are treatments that can help control the symptoms. People with OCA should avoid direct sunlight, wear sunglasses and wide-brimmed hats, and use sunscreen when outdoors. They should also have regular eye exams and monitor their vision regularly.