Genetic Diseases of the Eye (2^nd Ed.) Oxford Monographs on Medical Genetics Series, Vol. 13

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.

Section I: Malformations. 1: Embryology of the Eye and the Role of Developmental Genes*. Olof H. Sundin. 2: Teratogens and Ocular Malformations. Kerstin Stromland 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 Heon. 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