Clinical Ophthalmic Genetics and Genomics

Table of Contents

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

Section II. Genetic disorders affecting the anterior segment 9. Genetic disorders affecting the cornea 10. Anterior segment developmental disorders 11. Cataract 12. Ectopia lentis

Section III. Genetic disorders affecting the posterior segment 13. Genetic disorders affecting the retina, choroid and RPE 14. Familial vitreoretinopathies 15. Genetic disorders affecting the optic nerve

Section IV. Genetic disorders affecting both the anterior and posterior segment 16. Developmental eye disorders 17. Aniridia 18. Albinism

Section V. Genetic disorders affecting ocular motility 19. Infantile nystagmus 20. Congenital cranial dysinnervation disorders 21. Progressive external ophthalmoplegia

Section VI. Tumour predisposition syndromes 22. Phakomatoses 23. Naevoid basal cell carcinoma syndrome 24. Congenital hypertrophy of retinal pigment epithelium (CHRPE) 25. Retinoblastoma

Authors

Graeme C.M. Black Professor of Genetics and Ophthalmology, Central Manchester University Hospitals NHS Foundation TrustDphil, FRCOphth, Manchester, UK. Dr. Graeme Black, an internationally recognised authority on Genetic Ophthalmology, is Professor and Honorary Consultant of Genetics and Ophthalmology at the University of Manchester, England. Graeme's major research focus is the molecular and phenotypic characterisation of inherited developmental disorders, aiming to improve diagnosis, management and treatment. He has >250 peer-reviewed publications. Graeme runs a busy supraregional clinical service and oversees the scientific team that provides accredited genomic testing for patients with ophthalmic disorders (2004-date). Concurrently, Graeme has held a number of key strategic clinical academic leadership positions (e.g Director, NIHR Manchester Biomedical Research Centre (2009-12), Manchester Institute of Human Development (2012-15), Manchester Centre for Genomic Medicine and North West England Genomic Laboratory Hub (2015-2021). Jane L. Ashworth Pediatric Ophthalmology Consultant, Manchester Royal Eye Hospital, Manchester, UK. Dr. Jane Ashworth is a Consultant Pediatric Ophthalmologist at Manchester Royal Eye Hospital and Honorary Professor at the University of Manchester. She has a busy clinical and surgical paediatric ophthalmology practice, with regular multidisciplinary subspecialty clinics in pediatric cataract, ophthalmic genetics, pediatric uveitis and metabolic disease. Jane has a major role in teaching and training as Head of School of Ophthalmology in Health Education England North West. Panagiotis I. Sergouniotis Senior Lecturer and Consultant in Genetic Ophthalmology, University of Manchester, UK. Dr. Panagiotis (Panos) Sergouniotis is a Senior Lecturer and Consultant in Genetic Ophthalmology at the University of Manchester. His research involves working at the intersection of genomics, bioinformatics and clinical ophthalmology and his contributions span the translational spectrum from basic biology to implementation science. Panos runs the supraregional pediatric ophthalmic genetic clinic specialising in genetic disorders of the retina.