Albinismi

Albinism, known as albinismi in some languages, is a genetically inherited condition characterized by reduced or absent melanin pigment in the skin, hair, and eyes. From birth, individuals typically have very light skin and hair with pale irises. The touchpoint of pigment varies among people with albinism. Because melanin protects against ultraviolet radiation and supports normal visual development, many experience light sensitivity and vision problems such as reduced acuity and involuntary eye movements.

Most forms are autosomal recessive and caused by mutations in genes involved in melanin production, including TYR, OCA2, TYRP1, and SLC45A2. A distinct form, X-linked ocular albinism, mainly affects the eyes. Oculocutaneous albinism (OCA) is the best-known type, with decreased pigment in skin, hair, and eyes and associated visual challenges.

Diagnosis is based on clinical findings and family history; genetic testing can identify the causative variant. Routine newborn screening is not standard. An ophthalmologic assessment is common to evaluate vision and related conditions.

Management focuses on sun protection to reduce skin cancer risk, dermatologic monitoring, and vision support, including corrective lenses, tinted glasses, and, where useful, low-vision aids. Education and psychosocial support are important, as stigma and social challenges may occur. There is no cure; care is multidisciplinary and lifelong.

Global prevalence is estimated at about 1 in 17,000 to 20,000 people, with higher rates in some isolated populations. Ongoing work in genetics, vision rehabilitation, and public health aims to improve diagnosis, counseling, and access to care.