The Gene Team
How molecular science is assisting the diagnosis and management of inherited eye diseases

Genetics for Ophthalmologists:
The Molecular Genetic Basis of Ophthalmic Disorders
By Graeme CM Black
Remedica Publishing, London, November 2002
Paper back: 368 pages, colour illustrations
ISBN: 190134620X
Price: US$40.00/st£25.00/€40.00

ALTHOUGH diagnosing genetic mutations and ordering predictive genetic tests may not be part of day-to-day practice for general ophthalmologists, no ophthalmologist can ignore the potential for genetics to alter ophthalmic practice forever.

Unless you are near retirement you may soon find yourself taking a dip into the deep and unknown waters of genetics. For almost every ophthalmologist, a working knowledge of genetics has already become relevant; genetics is no longer just for academics.

Even if you are not an expert on the Human Genome Project, there’s no need to panic though. Here is a gentle introduction to the first step on the staircase leading to a command of ophthalmic genetics - a summary of current clinical genetic ophthalmology and how it may be applied to diagnosis, management and counselling of patients with inherited eye diseases.

Genetics for Ophthalmologists is one of a series of books on genetics for different medical specialties published by Remedica, an independent publisher specialising in medical and scientific journals, books, proceedings and internet publishing.
This series is a very good idea. Only a few clinicians keep abreast of genetics developments in their areas. Most of us are happy to leave to the scientist the breaking of genetic news, the untangling of which genes do what and the polishing of diagnostic tests.

The problem is that, in ophthalmology as in many other medical disciplines, the rapidity of the genetic revolution has left many physicians behind. And it is quickly becoming relevant to clinical practice. I say relevant rather than essential, but that is only a question of time. If I have got you worried about a gap in your knowledge, this book is for you.

The editor of the full series is Eli Hatchwell MD, based in the United States at the Cold Spring Harbour Laboratory. Dr Hatchwell, who specialises in “sporadic human genetic disease”, is a very eminent scientist with an impressive publication record.
The book’s author is Graeme CM Black PhD FRCOphth, a Wellcome Senior Clinical Fellow in Manchester University, UK. Mr Black is an honourary consultant in genetics and ophthalmology at Central Manchester and Manchester Children’s hospitals.

The book is very nicely produced. It’s too large and too heavy to carry around in a pocket, but small and compact enough for bags and briefcases. It feels strongly bound – it may surprise you how many books fall apart during the process of reviewing them – and the printing and illustrations are of good quality.

The contents are highly organised, from front to back - the cornea to the optic nerve, covering the lens, glaucoma, retinal disease and, vitreoretinal disorders. Metabolic disorders, risk of malignant disease, and problems with the annexa follow.
In some sections, but not in all, the author writes a one or two-page introduction about the very basics of congenital disease in that area. Two, three or four pages describing a genetic disease follow.

Each disease is identified by a principal name (for example Stickler syndrome.) The principal name is followed by a collection of other names for the disease. In the case of Stickler syndrome, the names include “STL” and “hereditary progressive artho-ophthalmopathy”. The alternative names are almost always as charming as that.

Then you are told the “MIM” – here the book’s glossary comes to the rescue. MIM stands for “Mendelian Inheritance in Man”, a list of numbers of a classification system started in the mid-1960s. Several headings of short sections follow: clinical features, age of onset, type of inheritance, chromosomal location (when known), mutational spectrum, effect of the mutation and diagnosis.

Very depressingly, you don’t get sections headed “treatment”. Some of them don’t even have a “diagnosis” section. What you have here is effectively a comprehensive dictionary of genetic diseases in ophthalmology.
The text is illustrated with many photos, mainly clinical images, both ocular and from other affected areas of the body. The language is precise and technical, but clear.

At the end of the book are three extra sections: glossary, abbreviations and index. The index is unremarkable but good; the abbreviations are essential – geneticists love abbreviations, the longer the better; and the glossary is a real jewel.

To start with, it is big – 52 pages, 15% of the book, is glossary. Most common genetic words are included and that goes for the easy ones (DNA) to some challenging ones.
Dizygotic, Robertsonian translocation and sibship are some of my favourites.

Although the definitions are clear, all is relative here – it isn’t an introduction to basic genetic science. But any dedicated reader would have all of his/her questions addressed here. The glossary also uses diagrams, tables, photos and graphs to make the terms clear. How else could you grasp “linkage disequilibrium”?

Other features of this book are the excellent endorsements on the back cover. Four experts – from the UK, US and Australia – give glorious praise to the work. The longer version of these comments can be found on the inside pages, just before the contents page.

You actually need good endorsements. You need to trust them, because there are no references in this book. And just in case you want to know more, five web pages are suggested in the introduction to the series by Dr Hatchwell.
Considering how many genes underlying ophthalmic diseases have been identified, and the degree to which understanding and investigating these genes has advanced our knowledge of the pathophysiology of the eye, ophthalmologists should prepare to embrace genetics.

Having said that, you won’t find anything here that revolutionises your practice. A lot of information in this book is very practical, and it is definitely clinically rather than scientifically oriented. Having said that, questions about genetic penetrance are not yet that common to the average practitioner.

There is also a lot of information for genetic information anoraks. Tables of chromosomal locations are particularly meaningless to clinicians, not to mention the MIM again.
Even if you don’t want to become the genetic disease expert of your department, you may still find this book useful to look up those MIMs and mutational spectrums as they slowly invade your practice.

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