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.
"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!"
--Richard Alan Lewis, M.D., M.S., Baylor College of Medicine

"The new edition of Genetic Diseases of the Eye is an essential reference book for ophthalmologists and clinical geneticists who have an interest in inherited eye disorders. The book covers all the major genetic disorders of the eye, including developmental eye anomalies and those eye abnormalities that occur as part of multisystem disorders. Each of the chapters is written by leading experts in the field which ensures that each subject is covered in depth and the information is completely up to date. In addition there is sound practical advice about diagnosis and clinical management. It is an outstanding book that should take pride of place on the bookshelf of all clinicians working with patients with genetic eye disease."
-Anthony Moore, Professo, University College of London Institute of Ophthalmology, Moorfields Eye Hosptial

"Dr. Traboulsi manages to flawlessly integrate the expanding knowledge of individual genes and their molecular functions with the evolving understanding of the clinical syndromes to which they are linked." -- oody's

"This is an excellent book. It is very well illustrated with numerous colouSECTION 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 ; 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