Albinism Tyrosinase Negative refers to a rare genetic disorder characterized by a complete absence or dysfunction of the enzyme tyrosinase, which is necessary for the production of melanin. Melanin is the pigment responsible for the color of the hair, skin, and eyes.
Individuals with Albinism Tyrosinase Negative exhibit a complete loss of pigment in their hair, skin, and eyes, resulting in a stark white or pale appearance. This condition is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent.
Due to the absence or malfunction of tyrosinase, affected individuals often experience visual impairment, such as decreased visual acuity, nystagmus (involuntary eye movements), and photophobia (sensitivity to light). These vision problems can vary in severity among individuals.
In addition to visual impairments, individuals with Albinism Tyrosinase Negative may also have other associated conditions, such as ocular abnormalities, including strabismus (crossed or misaligned eyes) and foveal hypoplasia (underdevelopment of the center of the retina).
There is currently no cure for Albinism Tyrosinase Negative. Treatment mainly focuses on managing the symptoms and complications associated with the condition. This may involve visual aids, such as prescription glasses or contacts, to correct refractive errors or assist with visual acuity. Additionally, individuals are advised to take steps to protect their skin from sunlight, as they have a heightened sensitivity to UV radiation and an increased risk of sunburn and skin cancer. Regular eye examinations are also essential to monitor and address any potential complications or changes in vision.
