Ian M. MacDonald and Miguel C. Seabra

in Genetic Diseases of the Eye, Second Edition

Second edition

Published on behalf of © Elias I. Traboulsi

Published in print January 2012 | ISBN: 9780195326147
Published online October 2012 | e-ISBN: 9780199975181 | DOI:

Series: Oxford Monographs on Medical Genetics


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  • Clinical Genetics
  • Ophthalmology


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Choroideremia is an X-linked progressive degeneration of the retinal pigment epithelium (RPE), retina, and choroid. Choroideremia primarily affects males. Boys have difficulty seeing at night in the first decade of life and then become aware of loss of peripheral vision by their teens and twenties. Areas of RPE disruption throughout the fundus are early clinical manifestations in a male patient with choroideremia. The progressive retinal changes in choroideremia can be described by careful analysis of optical coherence tomographic (OCT) images. This chapter covers visual function tests, associated conditions, differential diagnosis, histopathology, mapping, isolation of the gene and mutaional analysis, and biochemistry. Animal models that reflect the human condition allow careful observation of the pathophysiology and staging of disease, and also provide insights into potential targets for treatment. At present there is no treatment for choroideremia. Patients may benefit from career counseling and referral to agencies and patient support groups that deal with the blind and visually disabled. In terms of potential therapies, Choroideremia is a likely target for gene therapy.

Chapter.  5314 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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