[Albinism: Clinical presentation, diagnostics and visual function]

Albinism is characterized by a reduced or absent production of melanin in the skin, hair and eyes to a variable extent. Various inheritance patterns and genes can lead to a typical clinical phenotype. A distinction is made between three manifestations, oculocutaneous, ocular and syndromic forms of albinism. In an ophthalmological context, albinism is usually manifested in early childhood through nystagmus and visual impairment. Typical findings include iris transillumination, foveal hypoplasia and retinal hypopigmentation, each varying in severity. Children with albinism also present with strabismus, refractive errors and amblyopia. An atypical chiasmal decussation of ganglion cell axons can be demonstrated using visually evoked potentials. Advanced imaging techniques, such as optical coherence tomography and magnetic resonance imaging, provide important insights into the anatomy of the visual pathway in albinism and shed light on the plasticity of the human visual system.