albinismissa

Albinism is a group of inherited disorders characterized by a lack of melanin pigment in the skin, hair, and eyes. Melanin is the substance that gives color to these tissues and plays a role in vision. The specific genetic mutation responsible for albinism varies depending on the type, but all types result in reduced or absent melanin production.

There are several types of albinism, with oculocutaneous albinism being the most common, affecting skin, hair, and eyes. Ocular albinism primarily affects the eyes, with minimal or no changes to skin and hair color. Individuals with albinism often have very pale skin, white or very light blonde hair, and light blue or pinkish eyes. Their vision can be significantly impacted, with conditions like photophobia (sensitivity to light), nystagmus (involuntary eye movements), strabismus (misaligned eyes), and reduced visual acuity being common.

The inheritance pattern for albinism is typically autosomal recessive, meaning an individual must inherit a mutated gene from both parents to have the condition. However, some rarer forms have different inheritance patterns. There is no cure for albinism, but management focuses on protecting the skin from sun damage with sunscreen, protective clothing, and sunglasses, and addressing visual impairments with corrective lenses and visual aids. Regular eye examinations are crucial to monitor vision changes and manage associated conditions.