Genetic Diseases of the Eye (Oxford Monographs on Medical Genetics, 13)

This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title 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. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press's prestigious genetics texts. Joining __Oxford Medicine Online__ these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF. This 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. Section One: Malformations -- Chapter 1: Embryology Of The Eye And The Role Of Developmental Genes / Olof H. Sundin -- Chapter 2: Teratogens And Ocular Malformations / Kerstin Strömland And Marilyn T. Miller -- Chapter 3: Malformations Of The Ocular Adnexae / Craig Lewis, Katrinka L. Heher, James A. Katowitz, And Elias I. Traboulsi -- Chapter 4: Nanophthalmos / Eduardo Duarte Silva And Olof H. Sundin -- Chapter 5: Anophthalmia, Colobomatous, Microphthalmia, And Optic Fissure Closure Defects / Brian P. Brooks And Elias I. Traboulsi -- Chapter 6: Cornea Plana / Arif O. Khan -- Chapter 7: Malformations Of The Anterior Segment Of The Eye / James E. H. Smith And Elias I. Traboulsi -- Chapter 8: Aniridia / Reecha Sachdeva And Elias I. Traboulsi -- Chapter 9: Congenital Anomalies Of The Optic Nerve / Brian P. Brooks And Elias I. Traboulsi -- Chapter 10: Congenital Abnormalities Of The Retinal Pigment Epithelium / Arturo Santos And Elias I. Traboulsi -- Chapter 11: Prenatal Imaging Of The Eye And Ocular Adnexae / Erin Broaddus, Donna Patno, Janet Reid, Jeffrey Chapa, Elias I. Traboulsi, And Arun D. Singh -- Chapter 12: Ocular Manifestations Of Syndromes With Craniofacial Abnormalities / Wadih M. Zein, Amy Feldman Lewanda, Elias I. Traboulsi, And Ethylin Wang Jabs -- Chapter 13: Ocular Manifestations Of Chromosomal Abnormalities / Sorath Noorani Siddiqui, Alex V. Levin, Matt Rusinek, Joanne E. Sutherland, And Anthony G. Quinn -- Section Two: Refractive Errors, Cornea, Glaucoma, And Cataracts -- Chapter 14: Inheritance Of Refractive Errors / Wadih M. Zein And Arlene V. Drack -- Chapter 15: Corneal Dystrophies / Walter Lisch, Elias I. Traboulsi, And Dimitri T. Azar -- Chapter 16: The Genetics Of Keratoconus / Marzena Gajecka -- Chapter 17: Molecular Genetics Of Primary Congenital Glaucoma / Roshanak Sharafieh, Anne H. Child, And Mansoor Sarfarazi -- Chapter 18: Molecular Genetics Of Primary Open-angle Glaucoma / Anne H. Child, Filipe M. Pereira Da Silva, Jose Aragon-martin, Roshanak Sharafieh, And Mansoor Sarfarazi -- Chapter 19: Genetics Of Congenital Cataracts / Madhavan Jagadeesan And Elise Héon -- Section Three: Retina And Optic Nerve -- Chapter 20: Retinal Function Testing And Genetic Disease / Luis A.r. Gabriel, Neal S. Peachey, And Janet S. Sunness -- Chapter 21: Genetic Pathways In Retinal Degenerations And Targets For Therapy / Loh-shan Bryan Leung, Vinod Babu Voleti, Jonathan H. Lin, And Stephen H. Tsang -- Chapter 22: Proteomic Biomarkers For Age-related Macular Degeneration / John W. Crabb -- Chapter 23: Retinitis Pigmentosa / Henry A. Ferreyra And John R. Heckenlively -- Chapter 24: Juvenile Retinoschisis / Paul A. Sieving And Lucia Ziccardi -- Chapter 25: Achromatopsia-rod Monochromacy / Susanne Kohl -- Chapter 26: Cone Dysfunction Syndromes, Cone Dystrophies, And Cone-rod Degenerations / Elias I. Traboulsi -- Chapter 27: North Carolina Macular Dystrophy/mcrd1 / Kean T. Oh And Kent Small -- Chapter 28: Bestrophinopathies / Bart P. Leroy -- Chapter 29: Nr2e3-linked Retinal Degenerations: Enhanced S-cone Sensitivity Syndrome, Goldmann-favre Syndrome, Clumped Pigmentary Retinal Degeneration, And Retinitis Pigmentosa / Daniel F. Schorderet, Neena Haider, And Pascal Escher -- Chapter 30: Disorders Of Color Vision / Samir S. Deeb And Arno G. Motulsky -- Chapter 31: Stargardt Disease / Aimee V. Chappelow And Elias I. Traboulsi -- Chapter 32: Congenital Stationary Night Blindness / Elias I. Traboulsi, Bart P. Leroy, And Christina Zeitz -- Chapter 33: Choroideremia / Ian M. Macdonald And Miguel C. Seabra -- Chapter 34: Leber Congenital Amaurosis: Clinical, Genetic, And Therapeutic Perspectives / Robert K. Koenekoop, Frans P.m. Cremers, Irma Lopez, And Anneke I. Den Hollander -- Chapter 35: Familial Exudative Vitreoretinopathy, Norrie Disease, And Other Developmental Retinal Vascular Disorders / Johane M. Robitaille, Duane L. Guernsey, And Elias I. Traboulsi -- Chapter 36: Hereditary Vitreoretinopathies / Daniel F. Rosberger, Ravi D. Patel, And Elias I. Traboulsi -- Chapter 37: Genetics Of Age-related Maculopathy / Oluwatoyin Fafowora And Michael B. Gorin -- Chapter 38: Pattern Dystrophies Of The Rpe / Kean T. Oh -- Chapter 39: Hereditary Optic Neuropathies / David A. Mackey -- Chapter 40: Pigmentary Retinopathy In Systemic Inherited Disease / Ying Qian, Richard Alan Lewis, And Elias I. Traboulsi -- Section Four: Eye Movement Disorders -- Chapter 41: The Genetics Of Nystagmus And Associated Inherited Diseases / Shery Thomas And Irene Gottlob -- Chapter 42: The Genetics Of Strabismus And Associated Disorders / Gena Heidary, Elias I. Traboulsi, And Elizabeth C. Engle -- Section Five: Systemic Disease And The Eye -- Chapter 43: Ectopia Lentis And Associated Systemic Disease / Elias I. Traboulsi And Suneel S. Apte -- Chapter 44: Peroxisomal Disorders / Mark E. Pennesi And Richard G. Weleber -- Chapter 45: Albinism / Reecha Sachdeva, Lisa S. Abrams, And Elias I. Traboulsi -- Chapter 46: The Phakomatoses / Michelle M. Ariss, Nicola K. Ragge, Manikum Moodley, And Elias I. Traboulsi -- Section Six: Cancer Genetics And The Eye -- Chapter 47: Systemic Associations Of Eyelid Tumors / Michelle M. Ariss, Elias I. Traboulsi, And Arun D. Singh -- Chapter 48: Genetic Aspects Of Uveal Melanoma / Werner Wackernagel And Arun D. Singh -- Chapter 49: Genetics Of Retinoblastoma / Emily Edelman, Rubens N. Belfort, Evelyn X. Fu, And Arun D. Singh -- Section Seven: Treatment -- Chapter 50: Vision Rehabilitation Of The Patient With Genetic Eye Disease / Joseph L. Derose -- Chapter 51: Genetic Counseling For Genetic Eye Disorders / Joanne E. Sutherland -- Chapter 52: Gene Therapy For Ocular Diseases / Ben J. Kim And Nadia K. Waheed. Edited By Elias I. Traboulsi. Includes Bibliographical References And Index. 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 mec 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