Albinism

Albinism is a congenital group of disorders of melanin synthesis, causing hypopigmented skin, hair, and eyes (oculocutaneous) or primarily ocular. Features: pale skin/hair, photophobia, nystagmus, reduced visual acuity, foveal hypoplasia, increased skin-cancer risk. It is usually autosomal-recessive. There is no cure; sun protection, low-vision aids, and dermatologic surveillance for skin cancer are key.

Common Symptoms

Hypopigmented skin/hair; photophobia; nystagmus; reduced visual acuity; strabismus; skin-cancer risk

Causes and Pathogenesis

Genetic defects in melanin synthesis (TYR, P gene, etc.) reduce melanin pigment in skin/hair/eye and cause abnormal foveal/optical development.

Treatment

Sun protection (sunscreen/clothing); low-vision aids; ophthalmology follow-up; skin-cancer surveillance; genetic counseling

Preventive Measures

Genetic counseling; strict UV protection; annual dermatology/eye exams.

Department to Visit

It is recommended to visit the Dermatology department; an appointment can be booked on this platform before the visit.

Warm reminder: The above information is for health science reference only and cannot replace professional medical diagnosis. If you have related symptoms, please seek medical attention at a regular hospital promptly.