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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.
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Related Experiment Video

Updated: Jul 10, 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

Oculocutaneous albinism.

Karen Grønskov1, Jakob Ek, Karen Brondum-Nielsen

  • 1Kennedy Center, National Research Center for Genetics, visual Impairment and Mental Retardation, Gl, Landevej 7, 2600 Glostrup, Denmark. kag@kennedy.dk

Orphanet Journal of Rare Diseases
|November 6, 2007
PubMed
Summary

Oculocutaneous albinism (OCA) is a genetic disorder affecting pigmentation, with varying severity. Early diagnosis and management of ocular and skin issues are key for individuals with OCA.

Area of Science:

  • Genetics
  • Ophthalmology
  • Dermatology

Background:

  • Oculocutaneous albinism (OCA) comprises inherited disorders of melanin biosynthesis, leading to reduced pigmentation in hair, skin, and eyes.
  • Prevalence varies globally, with an estimated 1 in 70 individuals carrying an OCA gene.
  • OCA presents a spectrum of severity, from complete melanin absence (OCA1A) to milder forms with pigment accumulation over time (OCA1B, OCA2, OCA3, OCA4).

Purpose of the Study:

  • To provide a comprehensive overview of Oculocutaneous Albinism (OCA).
  • To detail the clinical manifestations, genetic basis, and diagnostic approaches for OCA.
  • To outline management strategies and differential diagnoses for OCA.

Main Methods:

  • Clinical observation and characterization of OCA phenotypes.

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  • Genetic analysis to identify causative genes (TYR, OCA2, TYRP1, MATP).
  • Review of diagnostic criteria and differential diagnoses.

    • Main Results:

    • OCA manifests with ocular symptoms like nystagmus, hypopigmentation, reduced visual acuity, and photophobia, alongside skin and hair hypopigmentation.
    • Optic nerve misrouting is common, leading to strabismus and reduced stereoscopic vision.
    • Four main genetic types (OCA1-4) are identified, inherited in an autosomal recessive manner, with molecular diagnosis crucial for subtype identification.

    Conclusions:

    • OCA diagnosis relies on clinical findings and molecular genetic testing for accurate subtyping.
    • Management includes visual aids, strabismus correction, sun protection, and regular skin cancer screenings.
    • Individuals with OCA typically have normal lifespan, development, intelligence, and fertility.