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Clinical Ophthalmic Genetics and Genomics
- 1st Edition - January 18, 2022
- Editors: Graeme C.M. Black, Jane L. Ashworth, Panagiotis I. Sergouniotis
- Language: English
- Paperback ISBN:9 7 8 - 0 - 1 2 - 8 1 3 9 4 4 - 8
- eBook ISBN:9 7 8 - 0 - 1 2 - 8 1 3 9 4 5 - 5
Clinical Ophthalmic Genetics and Genomics provides an accessible, clinically-focused reference for the evolving field of Genetic Ophthalmology. This well-organised, easy-to-r… Read more
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Request a sales quoteClinical 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.
- A structured introductory section offering a practical guide to the processes involved in diagnosing patients with genetic ophthalmic disorders
- Expert guidance on the complete spectrum of genetic ophthalmic disorders from leading international clinicians and researchers
- Well-organised with streamlined, templated chapters and a user-friendly layout that provides quick access to clinically relevant information, and is designed to help ophthalmologists, geneticists, and genetic counsellors in the clinic room
Pediatric and adult ophthalmologists, human geneticists, genetic counselors, ophthalmology residents and trainees, medical geneticists, research students in ophthalmology and human genetics, medical students
- Cover image
- Title page
- Table of Contents
- Copyright
- Contributors
- Preface
- Section I: Genomics and the eye
- Chapter 1: Genetic disorders and genetic variants
- Abstract
- Genetic disorders
- Mendelian inheritance
- Genetic variants and mutations
- Genetic testing
- The role of the ophthalmologist
- References
- Chapter 2: Genetic testing techniques
- Abstract
- Sanger sequencing
- Arrayed primer extension
- Massively parallel sequencing (next-generation sequencing)
- Structural variant analysis
- Concluding remarks
- References
- Chapter 3: Genetic variant interpretation
- Abstract
- Primary and secondary findings
- Which test to choose?
- Variant analysis
- How can the clinician facilitate effective variant interpretation?
- Expect the unexpected
- Be aware of atypical presentations
- Be alert to what you might be missing
- Concluding remarks
- References
- Chapter 4: Genetic counselling and family support
- Abstract
- Genetic testing—The patient and family perspective
- Genetic testing—Types of tests
- The family tree and the role of the genetic counsellor
- Consent for genetic testing
- Concluding remarks
- References
- Chapter 5: Syndromic conditions and the eye
- Abstract
- The value of diagnosing an ophthalmic syndrome
- When to suspect an ophthalmic syndrome
- How should syndromic ophthalmic disorders be investigated?
- Counselling before and following genomic testing
- Disorders that remain undiagnosed after genomic testing
- Concluding remarks
- References
- Chapter 6: Ophthalmic phenotyping: Electrophysiology
- Abstract
- Key electrical events along the visual pathway
- Electrodiagnostic tests
- The role of electrophysiology in genetic ophthalmic practice
- Concluding remarks
- References
- Chapter 7: Ophthalmic phenotyping: Imaging
- Abstract
- Optical coherence tomography (OCT)
- Short-wavelength fundus autofluorescence (SW-AF)
- Near-infrared fundus autofluorescence (NIR-AF)
- Quantitative fundus autofluorescence (qAF)
- Adaptive optics
- Concluding remarks
- References
- Chapter 8: Gene therapy and treatment trials
- Abstract
- Background to retinal gene therapy trials
- Ethical approval of a retinal gene therapy clinical trial
- Clinical trial endpoints
- Surgical considerations
- Concluding remarks
- References
- Section II: Genetic disorders affecting the anterior segment
- Chapter 9: Genetic disorders affecting the cornea
- Abstract
- 9.1: Primary megalocornea
- 9.2: Brittle cornea syndrome
- 9.3: Corneal dystrophies
- 9.4: Keratopathy in inborn errors of metabolism
- 9.5: Keratopathy in ectodermal dysplasias
- Chapter 10: Anterior segment developmental disorders
- Abstract
- 10.1: Primary congenital glaucoma
- 10.2: Primary juvenile glaucoma
- 10.3: Axenfeld-Rieger spectrum
- 10.4: Peters anomaly
- Chapter 11: Cataract
- Abstract
- 11.1: Non-syndromic congenital cataract
- 11.2: Syndromic congenital cataract
- 11.2.1: Cockayne syndrome
- 11.2.2: Warburg Micro syndrome
- 11.2.3: Oculofaciocardiodental syndrome
- 11.2.4: Nance–Horan syndrome
- 11.2.5: Cataract in inborn errors of metabolism
- 11.2.6: Lowe oculocerebrorenal syndrome
- 11.2.7: Hyperferritinemia-cataract syndrome
- 11.2.8: Galactosaemia
- 11.2.9: Cerebrotendinous xanthomatosis
- Chapter 12: Ectopia lentis
- Abstract
- 12.1: ADAMTSL4-related disorders, including isolated ectopia lentis
- 12.2: Marfan syndrome
- 12.3: Weill–Marchesani syndrome
- 12.4: Homocystinuria
- Section III: Genetic disorders affecting the posterior segment
- Chapter 13: Genetic disorders affecting the retina, choroid and RPE
- Chapter 13A: Genetic disorders causing non-syndromic retinopathy
- 13A.1: Non-syndromic retinitis pigmentosa
- 13A.2: Choroideremia
- 13A.3: Enhanced S-cone syndrome and NR2E3-associated disorders
- 13A.4: Congenital stationary night-blindness
- 13A.5: Leber congenital amaurosis and severe early childhood onset retinal dystrophies
- 13A.6: Cone dysfunction disorders
- 13A.7: Cone/cone-rod dystrophies
- 13A.8: ABCA4-related disorders
- 13A.9: BEST1-related disorders (bestrophinopathies)
- 13A.10: Pattern dystrophies
- 13A.11: X-linked retinoschisis
- 13A.12: Occult macular dystrophy
- 13A.13: North Carolina macular dystrophy
- 13A.14: Genetic disorders mimicking age-related macular disease
- 13A.15: Genetic architecture of age-related macular degeneration
- Chapter 13B: Syndromic retinal disease
- 13B.1: Ciliopathies
- 13B.1.1: Bardet-Biedl syndrome
- 13B.1.2: Joubert syndrome
- 13B.1.3: Alström syndrome
- 13B.1.4: Usher syndrome
- 13B.2: Retinopathy in inborn errors of metabolism
- 13B.2.1: Gyrate atrophy of the choroid and retina
- 13B.2.2: Bietti corneoretinal crystalline dystrophy
- 13B.2.3: Pseudoxanthoma elasticum
- 13B.2.4: MIDD (maternally inherited diabetes, deafness and maculopathy)
- 13B.2.5: Long-chain L-3 hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency
- 13B.2.6: Neuronal ceroid lipofuscinosis (Batten disease)
- 13B.2.7: Cobalamin C deficiency
- 13B.2.8: Cohen syndrome
- Chapter 14: Familial vitreoretinopathies
- Abstract
- 14.1: Familial exudative vitreoretinopathy spectrum
- 14.1.1: Familial exudative vitreoretinopathy
- 14.1.2: Norrie disease
- 14.1.3: KIF11-related disorders
- 14.2: Incontinentia pigmenti
- 14.3: Stickler syndrome and allied collagen vitreoretinopathies
- 14.4: Wagner disease
- 14.5: Knobloch syndrome
- Chapter 15: Genetic disorders affecting the optic nerve
- Abstract
- 15.1: Leber hereditary optic neuropathy
- 15.2: Autosomal dominant optic neuropathy
- 15.3: Autosomal recessive optic neuropathy
- 15.4: Wolfram syndrome spectrum
- Section IV: Genetic disorders affecting both the anterior and posterior segment
- Chapter 16: Developmental eye disorders
- Abstract
- 16.1: Microphthalmia–anophthalmia–coloboma spectrum
- 16.2: Nanophthalmia and posterior microphthalmia
- Chapter 17: Aniridia
- Abstract
- Clinical characteristics
- Molecular pathology
- Clinical management
- References
- Chapter 18: Albinism
- Abstract
- Clinical characteristics
- Molecular pathology
- Clinical management
- References
- Section V: Genetic disorders affecting ocular motility
- Chapter 19: Infantile nystagmus
- Abstract
- Clinical characteristics
- Molecular pathology
- Clinical management
- References
- Chapter 20: Congenital cranial dysinnervation disorders
- Abstract
- 20.1: Congenital fibrosis of the extraocular muscles
- 20.2: Duane retraction syndrome
- 20.3: Horizontal gaze palsy and progressive scoliosis
- 20.4: Moebius syndrome
- Chapter 21: Progressive external ophthalmoplegia
- Abstract
- Clinical characteristics
- Molecular pathology
- Clinical management
- References
- Section VI: Tumour predisposition syndromes
- Chapter 22: Phakomatoses
- Abstract
- 22.1: Neurofibromatosis type 1
- 22.2: Neurofibromatosis type 2
- 22.3: Von Hippel–Lindau disease
- 22.4: Tuberous sclerosis complex
- Chapter 23: Naevoid basal cell carcinoma syndrome
- Abstract
- Clinical characteristics
- Molecular pathology
- Clinical management
- References
- Chapter 24: Congenital hypertrophy of retinal pigment epithelium (CHRPE)
- Abstract
- Clinical characteristics
- Molecular pathology
- Clinical management
- References
- Chapter 25: Retinoblastoma
- Abstract
- Clinical characteristics
- Molecular pathology
- Clinical management
- References
- Index
- Index of Genes
- No. of pages: 496
- Language: English
- Edition: 1
- Published: January 18, 2022
- Imprint: Academic Press
- Paperback ISBN: 9780128139448
- eBook ISBN: 9780128139455
GB
Graeme C.M. Black
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).
Affiliations and expertise
Professor of Genetics and Ophthalmology, Central Manchester University Hospitals NHS Foundation TrustDphil, FRCOphth, Manchester, UKJA
Jane L. Ashworth
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.
Affiliations and expertise
Pediatric Ophthalmology Consultant, Manchester Royal Eye Hospital, Manchester, UKPS
Panagiotis I. Sergouniotis
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.
Affiliations and expertise
Senior Lecturer and Consultant in Genetic Ophthalmology, University of Manchester, UK