Corneal Dystrophies

Walter Lisch, Elias I. Traboulsi, Irma Lopez and Dimitri T. Azar

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

Corneal Dystrophies

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  • Clinical Genetics
  • Ophthalmology


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Corneal dystrophies (CDs) are hereditary, bilateral, and progressive disorders of the cornea that affect its transparency. The morphology of the opacity defines the clinical phenotype. Traditionally, corneal dystrophies have been classified according to the anatomic location of the disease, the inheritance pattern, and the clinical presentation. Typical light and electron microscopic alterations of the different types of CDs could also be elucidated. Some CDs, such as macular CD (MCD), posterior polymorphous CD (PPCD), and congenital hereditary endothelial dystrophy type 2 (CHED 2), have other ocular or extraocular abnormalities. This chapter will discuss the clinical features, histopathology, genes and molecular pathophysiology, differential diagnosis, and treatment of different CDs based on the IC3D classification to provide ophthalmologists with a succinct update in the field.

Chapter.  21448 words.  Illustrated.

Subjects: Clinical Genetics ; Ophthalmology

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