Corneal dystrophies and degenerations: a molecular genetics approach

Abstract

The largest contribution to the refractive power of the eye does not come from the lens, but from the cornea. Opacity of this part of the eye is one of the most important causes of visual impairment. The book edited by Dr Wang is a largely successful attempt to give a summary of a group of inherited diseases affecting the cornea. The aim of the volume is to educate the reader about all aspects of these diseases from the elucidation of the molecular pathogenesis to the current therapeutical options. In the preface, it is explicitly stated that the practicing ophthalmologist is addressed by the book. Does it succeed in informing 'the' ophthalmologist about genetic issues, and is it also of interest for 'the' geneticist? The material is organized in six chapters: The first chapter gives a summary of the genes known to be mutated in several inherited corneal dystrophies. The chapter focuses on the gene encoding keratoepithelin (TGFBI, BIGH3), in which mutations have been identified in at least six clinically distinct inherited corneal dystrophies, and it also contains information about dystrophies not linked to the TGFBI gene on chromosome 5q. Very useful in this chapter are the tables listing the corneal dystrophies and their mode of inheritance, the mutations in the TGFBI gene (with information on genotype-phenotype correlation), and the corneal dystrophies not linked to the TGFBI gene. Chapters 2–4 review the corneal dystrophies of the corneal epithelium and Bowman's layer, corneal stroma, and corneal endothelium, respectively. The organization of the material about the diseases is somewhat different between the different chapters, but by and large there is a paragraph on the clinical picture, on the histopathology, on genetics and disease mechanisms, and on therapeutical options and patient management for the described corneal dystrophies. Chapter 5 gives an overview about corneal and conjunctival degenerations, most of which are not inherited, but have an exogenous cause. Chapter 6 summarizes the use of excimer laser surgery in treating corneal dystrophies. The book also contains questions for self-study examination, and a detailed and very useful index. Also included is a CD with all figures of the book plus several additional figures.