Genetic Diseases of the Eye
Series: Oxford Monographs on Medical Genetics; 13;
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Product details:
- Edition number 2
- Publisher OUP USA
- Date of Publication 12 January 2012
- ISBN 9780195326147
- Binding Hardback
- No. of pages994 pages
- Size 229x282x53 mm
- Weight 3175 g
- Language English
- Illustrations 600 color and black & white halftones; 55 line illustrations 0
Categories
Short description:
This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
MoreLong description:
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye.
Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mechanisms and outlining current therapy. While the molecular underpinnings, testing methods and therapy of genetic disorders continues to evolve, the clinical aspects are well established and are emphasized in this book. A large number of color figures are utilized to illustrate the various chapters and provide an essential Atlas aspect to this publication. This book is a 'must have' for pediatric ophthalmologists, retina specialists, and geneticists.
New to this edition:
- Several chapters have been dedicated to individual disorders, especially the retinal dystrophies, whose molecular genetic basis has been elucidated in the last decade or so.
- A large chapter on genetic counseling has been added to the book that is case and family-based and provides a practical approach to counseling patients and families with inherited eye diseases.
- A new chapter on the genetics of age-related macular degeneration and on proteomics as applies to age-related macular degeneration adds a new dimension to this book.
- A new chapter on teratogens and ocular malformations by Kirstin Stromland, one of the world leaders in this field.
- A new section on cancer genetics and the eye
- New chapters on ocular imaging and gene therapy for inherited eye diseases.
With the rapidly evolving identification of both the genes and the mechanisms of genetic disorders of the brain and visual system, with the close approach of targeted genetic diagnostics, and, even more exciting, the appearance of gene replacement therapy for selected genetic eye disorders, we have waited patiently for the next generation of Genetic Diseases of the Eye. This liberally illustrated text covers both basic mechanisms and clinical spectrums with ample supplements of current references. As we move quickly toward whole exome sequencing for both disease phenotypes with multiple causal genes and the malformation syndromes with no apparent single causal gene, this text is an essential companion for every practitioner in genetics and ophthalmology!"
Table of Contents:
Section I: Malformations
1: Embryology of the Eye and the Role of Developmental Genes*
Olof H. Sundin
2: Teratogens and Ocular Malformations
Kerstin Strömland and Marilyn T. Miller
3: Malformations of the Ocular Adnexae
Craig Lewis, Katrinka L. Heher, James A. Katowitz, and Elias I. Traboulsi
4: Nanophthalmos
Eduardo Duarte Silva and Olof H. Sundin
5: Anophthalmia, Colobomatous, Microphthalmia and Optic Fissure Closure Defects
Brian P. Brooks and Elias I. Traboulsi
6: Cornea Plana
Arif O. Khan
7: Malformations of the Anterior Segment of the Eye
James E. H. Smith and Elias I. Traboulsi
8: Aniridia
Reecha Sachdeva and Elias I. Traboulsi
9: Congenital Anomalies of the Optic Nerve
Brian P. Brooks and Elias I. Traboulsi
10: Congenital Abnormalities of the Retinal Pigment Epithelium
Arturo Santos and Elias I. Traboulsi
11: Prenatal Imaging of the Eye and Ocular Adnexae
Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa , Elias I. Traboulsi, and
Arun D. Singh
12: Ocular Manifestations of Syndromes with Craniofacial Abnormalities
Wadih M. Zein, Amy Feldman Lewanda, and Elias I. Traboulsi
Ethylin Wang Jabs
13: Ocular Manifestations of Chromosomal Abnormalities
Soorath Noorani, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, and Anthony G. Quinn
Section II: Refractive Errors, Cornea, Glaucoma, and Cataracts
14: Inheritance of Refractive Errors
Wadih M. Zein and Arlene V. Drack
15: Corneal Dystrophies
Walter Lisch, Elias I. Traboulsi, and Dimitri T. Azar
16: The Genetics of Keratoconus
Marzena Gajecka
17: Molecular Genetics of Primary Congenital Glaucoma
Roshanak Sharafieh, Anne H. Child, and Mansoor Sarfarazi
18. Molecular Genetics of Primary Open Angle Glaucoma
Anne H. Child, Filipe M. Pereira da Silva, Jose Aragon-Martin, Roshanak Sharafieh, and Mansoor Sarfarazi
19: Genetics of Congenital Cataracts
Madhavan Jagadeesan and Elise Héon
Section III: Retina and Optic Nerve
20: Retinal Function Testing and Genetic Disease
Luis Gabriel, Neal S. Peachey, and Janet S. Sunness
21: Genetic Pathways in Retinal Degenerations and Targets for Therapy
Loh-Shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, and Stephen H. Tsang
22: Proteomic Biomarkers for Age-Related Macular Degeneration
John W. Crabb
23: Retinitis Pigmentosa
Henry Ferreyra and John Heckenlively
24: Juvenile Retinoschisis
Paul A. Sieving and Lucia Ziccardi
25: Achromatopsia - Rod Monochromacy
Susanne Kohl
26: Cone Dysfunction Syndromes, Cone Dystrophies and Cone-Rod Degenerations
Elias I. Traboulsi
27: North Carolina Macular Dystrophy
Kean T. Oh and Kent Small
28: Bestrophinopathies
Bart P. Leroy
29: NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome (ESCS), Goldmann-Favre Syndrome (GFS), Clumped Pigmentary Retinal Degeneration (CPRD), And Retinitis Pigmentosa (RP)
Daniel F. Schorderet, Neena Haider, and Pascal Escher
30: Disorders of Color Vision
Samir S. Deeb and Arno G. Motulsky
31: Stargardt Disease
Aimee V. Chappelow and Elias I. Traboulsi
32: Congenital Stationary Night Blindness
Elias I. Traboulsi, Bart P. Leroy, and Christina Zeitz
33: Choroideremia
Ian M. MacDonald and Miguel C. Seabra
34: Leber Congenital Amaurosis: Clinical, Genetic and Therapeutic Perspectives
Robert K. Koenekoop, Frans P.M. Cremers, Irma Lopez, and Anneke I. den Hollander
35: Familial Exudative Vitreoretinopathy (FEVR), Norrie Disease and Other Developmental Retinal Vascular Disorders
Johane M. Robitaille, Duane L. Guernsey, and Elias I. Traboulsi
36: Hereditary Vitreoretinopathies
Daniel F. Rosberger, Ravi D. Patel, and Elias I. Traboulsi
37: Genetics of Age-related Maculopathy
Oluwatoyin Fafowora and Michael B. Gorin
38: Pattern Dystrophies of the RPE
Kean T. Oh
39: Hereditary Optic Neuropathies
David A. Mackey
40: Pigmentary Retinopathy in Systemic Inherited Disease
Ying Qian, Richard Alan Lewis, and Elias I. Traboulsi
Section IV: Eye Movement Disorders
41: The Genetics of Nystagmus and Associated Inherited Diseases
Shery Thomas and Irene Gottlob
42: The Genetics of Strabismus and Associated Disorders
Gena Heidary, Elias I. Traboulsi, and Elizabeth C. Engle
Section V: Systemic Disease the Eye
43: Ectopia Lentis and Associated Systemic Disease
Elias I. Traboulsi and Suneel B. Apte
44: Peroxisomal Disorders
Mark E. Pennesi and Richard G. Weleber
45: Albinism
Reecha Sachdeva, Lisa S. Abrams, and Elias I. Traboulsi
46: The Phakomatoses
Michelle M. Ariss, Nicola K. Ragge,Manikum Moodley, and Elias I. Traboulsi
Section VI: Cancer Genetics and the Eye
47: Systemic Associations of Eyelid Tumors
Michelle M. Ariss, Elias I. Traboulsi, and Arun D. Singh
48: Genetic Aspects of Uveal Melanoma
Werner Wackernagel and Arun D. Singh
49: Genetics of Retinoblastoma
Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, and Arun D. Singh
Part VII: Treatment
50: Vision Rehabilitation of the Patient with Genetic Eye Disease
Joseph L. DeRose
51: Genetic Counseling for Genetic Eye Disorders
Joanne E. Sutherland
52: Gene Therapy for Ocular Diseases
Ben J. Kim and Nadia K. Waheed
