Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more.
In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader.
- Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease
- Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology
- Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more
- Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader
1. Introduction 2. Overview of genetic testing techniques 3. Interpretation and delivery of results 4. Non-syndromic Inherited Retinal Disease 5. Syndromic IRD 6. Vitreoretinopathies 7. Childhood cataract, lens abnormalities and genetic testing 8. Corneal disease 9. Albinism 10. Anterior segment dysgenesis and glaucoma 11. Developmental eye abnormalities 12. Nystagmus 13. Ocular motility disorders 14. Optic neuropathies 15. Phacomatoses 16. Family support in genetic eye disease 17. Future developments and research
Dr. Jane Ashworth was appointed as a Pediatric Ophthalmology consultant at Manchester Royal Eye Hospital in 2007, following fellowship training. She leads the clinical and surgical management of a wide range of children's eyes conditions, including childhood strabismus (surgical and botulinum toxin treatment), amblyopia, pediatric cataract (surgical treatment), pediatric uveitis and genetic eye conditions. She takes part in regular multidisciplinary subspeciality clinics in pediatric uveitis, pediatric cataract and ophthalmic genetics, and has a particular interest in neurometabolic conditions. She takes part in the regional retinopathy of prematurity screening and treatment service. In addition to her clinical expertise, Jane is actively involved in pediatric ophthalmology research, and has co-authored 3 book chapters and more than 50 publications together with receiving several research grants. She regularly speaks at national and international conferences, and has co-chaired workshops and study days on pediatric ophthalmology topics in both the US and UK. Jane has a major role in teaching and training at MREH and regionally; she is Divisional Education Lead for MREH, and is also Training Program Director for Ophthalmology in the North West. She is Clinical and Educational Supervisor to ophthalmology trainees at MREH, and leads the Pediatric Ophthalmology Fellowship program at MREH, which attracts national and international candidates. She is an examiner for the Royal College of Ophthalmologists and a Fellow of the Royal College of Ophthalmologists, and also a member of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) and the British Isles Pediatric Ophthalmology and Strabismus Association (BIPOSA).
Dr. Graeme Black is Professor of Genetics and Ophthalmology at Central Manchester University Hospitals NHS Foundation Trust. During training he undertook a DPhil with Professor Ian Craig in the Department of Biochemistry at the University of Oxford, studying the genetics of X-linked inherited ophthalmic disease. It was this period that enabled him to develop his combined subspecialty interests. Having moved to Manchester in 1995 Graeme became a Wellcome Trust Clinician Scientist Fellow in 1997 and a Wellcome Trust Senior Research Fellow in 2002. This allowed him to focus on functional analyses of recently identified genes, defining their role in normal development as well as in the disorders studied. Graeme was the director of the NIHR Manchester Biomedical Research Centre (BRC), a specialist centre in Genetics and Developmental Medicine, from 2009-2012. Graeme led the BRC to develop an impressive track record of translating scientific breakthroughs into clinical practice. From 2012 to 2014 Graeme was the inaugural director of the Institute of Human Development, within the Faculty of Medical and Human Sciences at The University of Manchester, helping to bring together research in the areas of genetic medicine, specialist senses, diabetes and endocrinology, maternal and fetal health and pediatrics. Graeme's major research interest is the investigation of genetic disorders associated with visual disability. His overarching aims are to improve the diagnosis, management and treatment of such conditions. This work initially focused on the characterization of genes and proteins underlying inherited developmental disorders such as anophthalmia, as well as cataract and retinal degenerative disorders. However, most recently, Graeme has overseen a scientific team that provides genetic testing for inherited ophthalmic disease. This includes retinoblastoma, the most common ocular malignancy of childhood. Furthermore, through funding provided by the Department of Health and the British Retinitis Pigmentosa Society, his team has developed a national genetic testing service for inherited retinal diseases. These include several forms of retinitis pigmentosa, cone-rod dystrophy as well as a number of macular dystrophies.
Dr. Bart Leroy completed his medical degree (MD), PhD in medical sciences, residencies in clinical genetics and ophthalmology and a fellowship in medical retina and visual electrophysiology at Ghent University in Belgium. He also completed a fellowship in medical retina, inherited retinal diseases, visual electrophysiology and molecular genetics at Moorfields Eye Hospital & Institute of Ophthalmology in London. Dr. Leroy is an Associate Professor of Ophthalmic Genetics and Visual Electrophysiology at Ghent University. As Director of the Ophthalmic Genetics and Retinal Degenerations clinics at The Children's Hospital of Philadelphia, Dr. Leroy's clinical focus is diagnosis and treatment of patients with inherited retinal and eye diseases including Leber congenital amaurosis, Stargardt disease, retinitis pigmentosa, and various other genetic syndromes and anomalies. In collaboration with the team of Drs. Jean Bennett, Albert M. Maguire and Katherine High, Dr. Leroy is involved in the ongoing gene therapy research work for inherited retinal blindness here at CHOP. Dr. Leroy is past president for the European Organization for Vision & Eye Research, as well as a member of the International Society for Genetic Eye Disease & Retinoblastoma, the Société de la Génétique Ophtalmologique Francophone and the Academia Ophthalmologica Belgica.