Scholarlink

<p>Albinism is characterized by a&#xa0;reduced or absent production of melanin in the skin, hair and eyes to a&#xa0;variable extent. Various inheritance patterns and genes can lead to a&#xa0;typical clinical phenotype. A&#xa0;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.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Albinismus: Klinik, Diagnostik und Sehfunktion

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2026年5月28日

查看全文
  • J. Biermann,
  • M. B. Hoffmann

摘要

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.