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Genetics for Ophthalmologists: the Molecular Genetic Basis of Ophthalmic Disorders
  1. Amanda Churchill

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    Graeme Black. Pp 368; £25. London: Remedica, 2002. ISBN 190134620X

    This is Remedica’s latest addition to its Genetics for...... series. Ophthalmologists can now join cardiologists, dermatologists, haematologists, oncologists, orthopaedic surgeons, chest physicians and rheumatologists in having their very own “genetics bible.” The fact is that no self respecting ophthalmologist, paediatrician, or clinical geneticist should be without a copy.

    Imagine, you are in the clinic and the patient sitting in front of you has what looks like a macular dystrophy. The age of the patient and the family history helps to some extent with the diagnosis but you can’t quite remember what associations you should be looking for or which genes may be involved. Should you be taking blood for DNA analysis or is genetic testing still part of the distant future in the NHS? You find a reason why your patient needs to leave the room—refraction, visual fields, colour vision ... anything will do—you reach for your handy “bible” and flick straight to page 88. There you find 20 useful pages on macular dystrophies with fabulous illustrations to impress your patient. No need to go home feeling inadequate and wishing you had listened more in your genetics lectures (if you were lucky enough to have them). You can counsel your patient appropriately and feel great! Thanks to Graeme Black.

    Genetics is on the television, on the internet, and in the outpatient clinic. Patients come armed with questions and are often very well informed about their condition.

    As clinicians we have to keep abreast of the rapid changes that are occurring in genetics. Over the past 20 years there has been a revolution in molecular medicine.

    Advances in laboratory techniques have enabled diagnoses and even predictions of disease inheritance that were previously only given as risk estimates. How and where does the ophthalmologist find this information without spending hours on the internet or pouring through journals? Black has provided the answer in his book Genetics for Ophthalmologists.

    In the introduction there is a list of useful websites that provide up to date information on inherited eye disease. The preface covers common but controversial issues that arise in counselling, such as whether it is ethical to perform predictive testing in children before the age of consent. Then you come to the meat of the book ... Black has provided the reader with a comprehensive coverage of inherited eye diseases starting at the cornea and working back towards the optic nerve. The format of the book is easy to follow with lots of colour photographs and useful summaries of the clinical and diagnostic criteria for each condition. Information about inheritance patterns, penetrance, the effect of mutations and whether genetic screening is currently possible will be invaluable to those involved in counselling families. There is also a very helpful glossary at the back for those less used to genetic terminology.

    This is the type of book that should be in every outpatient clinic consulting room with a spare copy in the departmental library. Genetics for Ophthalmologists will appeal to paediatricians, clinical geneticists, and all those with an interest in inherited eye disease. While updates and revisions will no doubt keep the author busy, the reader can sit back in the confidence that an extensive literature review has already been done allowing more time to be spent with the patient discussing the impact of this wealth of information.

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