Albinizmus

Albinizmus is a group of inherited conditions characterized by a deficiency or absence of melanin pigment in the skin, hair, and eyes. The most common form is oculocutaneous albinism (OCA), which affects the skin, hair, and eyes, but a non-skin form called ocular albinism (OA) affects the eyes more than the skin. In albinizmus, melanin production is disrupted due to mutations in genes that control tyrosinase activity and other enzymes involved in melanin biosynthesis. Most cases are inherited in an autosomal recessive pattern, though X-linked forms also exist (notably some ocular albinism types).

Clinical features include very light skin and hair, and pale or light-colored eyes with reduced pigment in the iris and retina. Vision problems are common, such as reduced visual acuity, involuntary eye movements (nystagmus), and sensitivity to light (photophobia). Some individuals may have strabismus. The degree of hypopigmentation and vision impairment varies by subtype.

Diagnosis is based on clinical examination of skin, hair, and eyes and family history, often supported by genetic testing. Differential diagnosis includes other pigmentary disorders and connective-tissue conditions that affect pigmentation or vision.

Management focuses on reducing sun damage and supporting vision. This includes strict sun protection (sunscreen, protective clothing), regular dermatologic checkups for skin cancer risk, and ongoing ophthalmologic care with corrective lenses or low-vision aids. People with albinizmus may benefit from genetic counseling for family planning, as many forms are autosomal recessive.

Prognosis is not curable, but life expectancy is generally normal with appropriate care. The condition remains rare, with prevalence varying by region; OCA is typically estimated at about 1 in 17,000 in many populations, while OA shows more variable prevalence. Social support and access to specialized medical care are important aspects of management.