Clinical Ophthalmic Genetics and Genomics

Provides in-depth coverage of clinical applications of genomics in ophthalmology, with emphasis on case-study based instruction in patient care and genetic counselling aspects, genetic and genomic diagnostics for common eye disorders, and ongoing research into treatment pathways

Graeme C.M. Black (Edited by), Jane L. Ashworth (Edited by), Panagiotis I. Sergouniotis (Edited by)

9780128139448, Elsevier Science

Paperback, published 20 January 2022

496 pages
23.5 x 19 x 3.1 cm, 1.54 kg

Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-read textbook integrates key concepts with clinical practice and is designed to enhance effective learning and retention of complex material. It includes contributions from recognised leaders in the field and provides expert guidance on the complete spectrum of genetic ophthalmic disorders.

Section I. Genomics and the eye 1. Genetic disorders and genetic variants 2. Genetic testing techniques 3. Genetic variant interpretation 4. Genetic counselling and family support 5. Syndromic conditions and the eye 6. Ophthalmic phenotyping. Electrophysiology 7. Ophthalmic phenotyping. Imaging 8. Gene therapy and treatment trials

Subject Areas: DNA & Genome [PSAK1]