Congenital Abnormalities of the Retinal Pigment Epithelium

Arturo Santos and Elias I. Traboulsi

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

Congenital Abnormalities of the Retinal Pigment Epithelium

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  • Clinical Genetics
  • Ophthalmology


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Congenital abnormalities of the RPE may be divided into focal, diffuse, and mixed categories. In focal lesions, such as congenital hypertrophy of the RPE (CHRPE), only a circumscribed group of cells are morphologically different from the rest of the RPE. In some metabolic diseases, such as albinism, on the other hand, all RPE cells are abnormal. In other conditions, such as familial adenomatous polyposis, there are focal lesions in addition to a diffuse RPE involvement. A clinicopathologic classification of these abnormalities is included in this chapter.

Chapter.  8222 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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