Genetic Diseases of the Eye

With the rapidly evolving identification of both the genes and the mechanisms of genetic disorders of the brain and visual system, with the close approach of targeted genetic diagnostics, and, even more exciting, the appearance of gene replacement therapy for selected genetic eye disorders, we have waited patiently for the next generation of Genetic Diseases of the Eye. This liberally illustrated text covers both basic mechanisms and clinical spectrums with ample supplements of current references. As we move quickly toward whole exome sequencing for both disease phenotypes with multiple causal genes and the malformation syndromes with no apparent single causal gene, this text is an essential companion for every practitioner in genetics and ophthalmology!" * Richard Alan Lewis, M.D., M.S., Baylor College of Medicine *
Dr. Traboulsi manages to flawlessly integrate the expanding knowledge of individual genes and their molecular functions with the evolving understanding of the clinical syndromes to which they are linked. * Doody's *
The new edition of Genetic Diseases of the Eye is an essential reference book for ophthalmologists and clinical geneticists who have an interest in inherited eye disorders. The book covers all the major genetic disorders of the eye, including developmental eye anomalies and those eye abnormalities that occur as part of multisystem disorders. Each of the chapters is written by leading experts in the field which ensures that each subject is covered in depth and the information is completely up to date. In addition there is sound practical advice about diagnosis and clinical management. It is an outstanding book that should take pride of place on the bookshelf of all clinicians working with patients with genetic eye disease. * Anthony Moore, Professo, University College of London Institute of Ophthalmology, Moorfields Eye Hosptial *