Practical Genomics for Clinical Ophthalmology

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 diseaseProvides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmologyIncludes 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 INDICE: 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

• ISBN: 978-0-12-813944-8
• Editorial: Academic Press
• Encuadernacion: Rústica
• Páginas: 544
• Fecha Publicación: 01/08/2019
• Nº Volúmenes: 1
• Idioma: Inglés