Genetic Diseases of the Eye

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. Elias I Traboulsi, MD , Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute. He is Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case University and Director of the Ophthalmology Residency Program at the Cleveland Clinic Foundation. He also serves as Vice-Chairman for Education at the Cole Eye Institute and Chairman of Graduate Medical Education at the Cleveland Clinic. He is Past President of The International Society for Genetic Eye Diseases and Retinoblastoma and its current executive vice-president. He has been the Editor-In-Chief of Ophthalmic Genetics sine 1992. He has authored more than 300 scientific articles and book chapters. 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