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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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.

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

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, UK

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, UK

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