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Related Concept Videos

Changes in Skin Color: Clinical Perspectives01:14

Changes in Skin Color: Clinical Perspectives

The first thing a clinician sees is the skin, so the examination of the skin should be part of any thorough physical examination. Most skin disorders are relatively benign, but a few, including melanomas, can be fatal if untreated. A couple of the more noticeable disorders, albinism and vitiligo, affect the appearance of the skin and its accessory organs.
Albinism
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Related Experiment Video

Updated: May 29, 2026

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography
13:26

Measuring Connectivity in the Primary Visual Pathway in Human Albinism Using Diffusion Tensor Imaging and Tractography

Published on: August 11, 2016

[Albinism: Clinical presentation, diagnostics and visual function].

J Biermann1,2,3, M B Hoffmann4,5

  • 1Augenklinik, Klinikum Bielefeld Rosenhöhe, Klinikum Bielefeld Gem. GmbH, An der Rosenhöhe 27, 33647, Bielefeld, Deutschland. julia.biermann@klinikumbielefeld.de.

Die Ophthalmologie
|May 28, 2026
PubMed
Summary
This summary is machine-generated.

Albinism, a genetic condition affecting melanin production, causes vision impairment and characteristic eye findings. Advanced imaging reveals visual pathway anatomy and plasticity in affected individuals.

Keywords:
Foveal hypoplasiaHypopigmentationMelaninNystagmusOptic decussation

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Published on: October 23, 2020

Area of Science:

  • Ophthalmology
  • Genetics
  • Medical Imaging

Background:

  • Albinism involves reduced or absent melanin production, affecting skin, hair, and eyes.
  • It presents with oculocutaneous, ocular, or syndromic forms, often diagnosed in early childhood.
  • Ophthalmological manifestations include nystagmus, visual impairment, and specific retinal and iris findings.

Purpose of the Study:

  • To describe the clinical phenotype and ophthalmological manifestations of albinism.
  • To highlight the utility of advanced imaging techniques in studying the visual pathway in albinism.
  • To explore the plasticity of the human visual system in the context of albinism.

Main Methods:

  • Review of clinical features and ophthalmological findings in albinism.
  • Utilizing visually evoked potentials to assess visual pathway abnormalities.
  • Employing advanced imaging like optical coherence tomography and magnetic resonance imaging.

Main Results:

  • Common findings include iris transillumination, foveal hypoplasia, retinal hypopigmentation, strabismus, refractive errors, and amblyopia.
  • Atypical chiasmal decussation of ganglion cell axons is observable.
  • Imaging techniques provide detailed insights into visual pathway anatomy.

Conclusions:

  • Albinism presents with a spectrum of visual impairments and characteristic ocular findings.
  • Advanced imaging is crucial for understanding the structural and functional aspects of the visual system in albinism.
  • The study underscores the visual system's plasticity despite albinism-related abnormalities.