Albinism Tyrosinase Positive (ATP) is a genetic disorder characterized by a deficiency of pigment in the eyes, hair, and skin, resulting in a lack of coloration. This condition is caused by mutations in the tyrosinase gene, which plays a critical role in the production of melanin, the pigment responsible for the coloration of these tissues.
Individuals with ATP typically have very pale skin that is easily sunburned and does not tan. Their hair is usually white or very light blond, and their eyes are often blue or pinkish due to the lack of pigment in the iris. The absence of melanin in the eyes can also cause vision problems, such as reduced visual acuity and sensitivity to bright light.
Furthermore, ATP is associated with increased susceptibility to certain health issues, including skin cancer and vision impairments like nystagmus and strabismus. Some individuals with ATP may also experience abnormal development of the visual pathways in the brain, resulting in visual processing difficulties.
ATP is an autosomal recessive disorder, meaning that it requires two copies of the mutated tyrosinase gene for the condition to manifest. This means that both parents must be carriers of the ATP gene and pass it on to their child for them to be affected.
Although there is no cure for ATP, certain treatment options can help manage the symptoms. These may include sun protection strategies to prevent sunburn and skin damage, vision aids like glasses or contact lenses, and dermatological surveillance for skin cancer prevention.
