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Corneal dystrophies and degenerations: a molecular genetics approach
  1. G C M Black

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    Edited by M X Wang. Oxford: Oxford University Press, 2003, £67.50, ISBN 0-19-516881-X (paperback).

    The corneal dystrophies represent a large and varied group of inherited conditions, and the underlying molecular basis of many has been elucidated over the past decade or so. This exciting progress has been rapid and now allows a re-evaluation of our clinical and morphological classifications. This monograph has been produced in association with the American Academy of Ophthalmology, and is published by Oxford University Press. The major body of the text comprises six chapters and a total of 123 pages. In addition, there is a short self-study examination directed towards US CME accreditation. As would be expected from such a collaboration, the production qualities are high. Dr Wang, the editor, is a clinical academic in Nashville with major interests in the cornea, external eye disease, and refractive surgery. He lists the book’s educational objectives: to bridge the gap between the new molecular information and the knowledge base for today’s ophthalmologists; to discuss current understanding of the molecular pathogenesis of these conditions; to outline the use of excimer laser for the treatment of corneal diseases; and to review the most recent literature on corneal dystrophies and degenerations. This monograph, and its two first objectives in particular, are therefore timely in their conception.

    The editor is co-author of five of the six chapters. The first chapter, written in collaboration with Dr Francis Munier, discusses the inheritance patterns of the corneal dystrophies, and in particular covers the range of epithelial and stromal dystrophies caused by defects in TGFBI/BIGH3, including a detailed and well constructed examination of their molecular pathology. The following three chapters describe, respectively, the epithelial, stromal, and endothelial dystrophies. In general the clinical, histopathological, and ultrastructural features of the disorders are clearly described, illustrated, and referenced. Here, the molecular focus is generally on gene identification and, whereas for certain disorders—for example, Meesmann epithelial dystrophy—there is a clear description of the underlying molecular mechanisms, this is disappointingly covered for many conditions. The final two chapters, concerning corneal and conjunctival degenerations and excimer laser therapies for corneal dystrophies, are likely to be of limited interest to the geneticist and carry little molecular information.

    The key difficulty, when producing a monograph such as this, is ensuring that what is produced is as recent as possible and is not simply a replication of information that is available in other ophthalmological texts. In the first regard, the book unfortunately appears to have taken a disappointingly long time from completion to publication. However, the degree of illustration–all figures are included on the excellent CD ROM that accompanies the book—when allied to the molecular details ensures that the phenotypic descriptions of the dystrophies are covered in a manner that will be both familiar and useful for ophthalmic clinicians and trainees alike.

    Conflicts of interest: none declared