Clinical Ophthalmic Genetics and Genomics
- 1st Edition - January 20, 2022
- Latest edition
- 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
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.
- 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
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
9.1. 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
10. Anterior segment developmental disorders
10.1. Primary congenital glaucoma
10.2. Primary juvenile glaucoma
10.3. Axenfeld-Rieger spectrum
10.4. Peters anomaly
11. Cataract
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
12. Ectopia lentis
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
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
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
14. Familial vitreoretinopathies
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
15. Genetic disorders affecting the optic nerve
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
16.1. Microphthalmia–anophthalmia–coloboma spectrum
16.2. Nanophthalmia and posterior microphthalmia
17. Aniridia
18. Albinism
Section V. Genetic disorders affecting ocular motility
20. Congenital cranial dysinnervation disorders
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
21. Progressive external ophthalmoplegia
Section VI. Tumour predisposition syndromes
22.1. Neurofibromatosis type 1
22.2. Neurofibromatosis type 2
22.3. Von Hippel–Lindau disease
22.4. Tuberous sclerosis complex
23. Naevoid basal cell carcinoma syndrome
24. Congenital hypertrophy of retinal pigment epithelium (CHRPE)
25. Retinoblastoma
- Edition: 1
- Latest edition
- Published: January 20, 2022
- Language: English
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, UKRead Clinical Ophthalmic Genetics and Genomics on ScienceDirect