You are here

Article Text

Article menu
Download PDFPDF
Perspective
Albinism: modern molecular diagnosis
  1. SUSAN M CARDEN
  1. Royal Children’s Hospital, Melbourne, Australia and Smith-Kettlewell Eye Research Institute, San Francisco, California, USA.
  2. Department of Dermatology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  3. Department of Ophthalmology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  4. Smith-Kettlewell Eye Research Institute, 2232 Webster Street, San Francisco, CA 94115, USA
  1. RAYMOND E BOISSY
  1. Royal Children’s Hospital, Melbourne, Australia and Smith-Kettlewell Eye Research Institute, San Francisco, California, USA.
  2. Department of Dermatology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  3. Department of Ophthalmology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  4. Smith-Kettlewell Eye Research Institute, 2232 Webster Street, San Francisco, CA 94115, USA
  1. PAMELA J SCHOETTKER
  1. Royal Children’s Hospital, Melbourne, Australia and Smith-Kettlewell Eye Research Institute, San Francisco, California, USA.
  2. Department of Dermatology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  3. Department of Ophthalmology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  4. Smith-Kettlewell Eye Research Institute, 2232 Webster Street, San Francisco, CA 94115, USA
  1. WILLIAM V GOOD
  1. Royal Children’s Hospital, Melbourne, Australia and Smith-Kettlewell Eye Research Institute, San Francisco, California, USA.
  2. Department of Dermatology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  3. Department of Ophthalmology, University of Cincinnati Medical Center, Cincinnati, Ohio, USA
  4. Smith-Kettlewell Eye Research Institute, 2232 Webster Street, San Francisco, CA 94115, USA
  1. William V Good, MD.

https://doi.org/10.1136/bjo.82.2.189

Statistics from Altmetric.com

    Request Permissions

    If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

    Albinism is no longer a clinical diagnosis. The past classification of albinism was predicated on phenotypic expression, but now molecular biology has defined the condition more accurately. With recent advances in molecular research, it is possible to diagnose many of the various albinism conditions on the basis of genetic causation. This article seeks to review the current state of knowledge of albinism and associated disorders of hypopigmentation.

    The term albinism (L albus, white) encompasses genetically determined diseases that involve a disorder of the melanin system. Each condition of albinism is due to a genetic mutation on a different chromosome. The cutaneous hypopigmentation in albinism ranges from complete absence of melanin to a minimal reduction in skin and hair colour.1 On the other hand, the ocular phenotypic characteristics of most types of albinism are rather constant and include reduced visual acuity, nystagmus, pale irides that transilluminate, hypopigmented fundi, hypoplastic foveae, and lack of stereopsis. Pleiotropy is exhibited by all types of albinism; single gene mutations have effects on different organ systems. The most obvious systems involved are the integument and the eyes, but the nervous, haematological, respiratory, and gastrointestinal systems may occasionally be affected.

    Three major mechanisms exist by which mutations exert their effect on the pigmentation process. Firstly, abnormal pigmentation may occur early in the pathway of differentiation of melanocytes. Melanoblasts from the neural crest might be affected along with cells from the same lineage, such as occurs in Waardenberg and Waardenberg–Hirschsprung syndrome where the melanocyte fails to populate certain areas during embryogenesis. Secondly, a mutation can affect the melanin biochemical pathway causing a more specific abnormality. Oculocutaneous albinism type 1 (OCA 1) is an example of such a condition. Thirdly, the biogenesis of intracellular organelles of different cells may need a common set of genes and one …

    View Full Text