What the experts say

Recent advances in molecular biology have impacted on all areas of clinical medicine including ophthalmology. Molecular genetic diagnosis is now possible for many inherited eye disorders and the identification of the genetic mutations causing eye disease has greatly improved our understanding of disease mechanisms. A new era of novel molecular targeted therapy beckons. All ophthalmologists will need to keep abreast of advances in this rapidly changing field. This excellent book, written by Dr Graeme Black, an international authority in the field of genetic eye disease, gives a wonderfully clear and concise summary of the many eye disorders that have a genetic basis. The text covers both isolated eye disease and multi-system disorders with an ocular component. The chapters follow a very clear structure detailing the clinical findings, age of onset, molecular genetics and diagnosis and this makes for great ease of use. The illustrations also serve to aid diagnosis. There is a very useful glossary at the end of the book that gives a clear explanation of genetic terminology with which the ophthalmologist may not be familiar. I can thoroughly recommend this excellent book; it will appeal not only to clinical ophthalmologists but to other specialists such as clinical geneticists and paediatricians. It is the ideal book to keep close at hand in the consulting room.

AT Moore, Professor of Ophthalmology, Institute of Ophthalmology

and Moorfields Eye Hospital, London, UK

Advances in the molecular genetics of ophthalmology are revolutionizing the specialty. However, clinicians find it difficult to access or utilize this new genetic information. This book provides a solution. It does a spectacular job of presenting an authoritative, up to date summary of molecular ophthalmology. The clear style and excellent illustrations demystify the molecular genetics of ophthalmology. It will be an excellent reference book for any health care practitioner who wishes to incorporate molecular genetics into the management of his or her patients. It is easy to read and I wholeheartedly recommend it both as an educational and reference tool.

Andrew Lotery, MD FRCOphth, Assistant Professor of

Ophthalmology, University of Iowa Hospitals & Clinics, USA

Genetics for Ophthalmologists

Genetics for Ophthalmologists is a comprehensive reference tool for the General Ophthalmologist to the Ophthalmic Geneticist. Hereditary eye diseases and syndromes are grouped ‘anatomically’ as a comprehensive catalog. Each disorder has a succinct synopsis of clinical features, illustrations, inheritance and information on the genes, mutations and presumed mechanism of action. Most importantly perspective on the utility and availability of genetic testing are given for each condition as well as a general opening section discussing issues relating to predictive testing and counselling. The extensive glossary gives a clear explanation of many terms used in genetics. Genetics for Ophthalmologists is an essential reference resource for every eye department.

David Mackey, MD FRANZCO

Centre for Eye Research, Australia

Graeme Black has performed an extensive review of the ophthalmic genetic literature and provided a masterpiece that has been long awaited by those with an interest in the genetics of eye disease. Until now it has been extremely difficult for the clinician to find this information without spending hours at the computer searching for relevant publications. This book provides a comprehensive coverage of inherited eye diseases starting at the cornea and working back towards the optic nerve. The format is easy to follow with 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 all those involved in counselling families. There is also a very helpful Glossary for those less used to genetic terminology. Clinical Geneticists and Ophthalmologists alike will find this an indispensable tool in their clinics and every medical library should have a copy. Despite the fast pace of genetics I feel sure this book will remain a valuable text for many years to come.

Amanda Churchill, PhD MBChB FRCOphth

Consultant Senior Lecturer in Ophthalmology,

University of Bristol, UK

Genetics for Ophthalmologists

Contents

Genetics for Ophthalmologists