Genetic Diseases of the Eye

Nyhet

Inbunden, Engelska, 2025

Av Elias I. Traboulsi, Virginia Miraldi Utz, Arif O. Khan, Cleveland Clinic) Traboulsi, MD Elias I., MEd (Professor of Ophthalmology and Director, Center for Genetic Eye Diseases, Professor of Ophthalmology and Director, Center for Genetic Eye Diseases, Cole Eye Institute, UC Department of Ophthalmology) Utz, MD Virginia Miraldi (Pediatric Ophthalmologist and Professor, Pediatric Ophthalmologist and Professor, Cincinnati Children's Hospital Medical Center, UAE) Khan, MD Arif O. (Department Chair, Pediatric & Neuro-Ophthalmology, Department Chair, Pediatric & Neuro-Ophthalmology, Eye Institute, Cleveland Clinic Abu Dhabi, Elias I Traboulsi, Arif O Khan

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This highly anticipated third edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. The richly illustrated volume covers every area in ophthalmology such as: malformations, refractive errors, the cornea, glaucoma and cataracts, retina and the optic nerve, eye movement disorders, systemic diseases of the eye, and more. What remains at the core of the book is a sound clinical approach to the patient with genetic diseases that affects the eye. Every chapter emphasizes the clinical aspects of diseases and ties them to underlying molecular mechanisms and outlines current therapy.This new edition continues to assemble the visionary work and technology that contributors from around the world have accomplished in this exciting field. In addition to updating all 52 original chapters, this 3rd edition contains Contains new chapters covering epidemiology and counseling, vision rehabilitation, embryology and development, genetics of eye conditions, diagnostic and imaging techniques, specific genetic disorders, and patient-reported outcomes. These new chapters provide comprehensive insights into the latest advancements and methodologies in the field; this last chapter to delve into basic genetic counseling. These updates and additions will continue to make Genetic Diseases of the Eye the most important reference for students, specialists, and clinical researchers in the fields of genetics and ophthalmology.

Produktinformation

Utgivningsdatum2025-10-21
Mått223 x 281 x 52 mm
Vikt2 631 g
FormatInbunden
SpråkEngelska
SerieOxford Monographs on Medical Genetics
Antal sidor1 176
Upplaga3
FörlagOUP USA
ISBN9780197659403

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Elias I. Traboulsi, MD, MEd is the Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute and He is the executive Vice-President and Past President of The International Society for Genetic Eye Diseases and Retinoblastoma. He was Editor of Ophthalmic Genetics from 30 years. He authored more than 450 scientific articles and book chapters. He gave more than 20 named lectures including the Costenbader Lecture, the Marshall M. Parks Lecture, the Franceschetti and the François lectures. He received the Master Educator Award at Cleveland Clinic and the Parker Palmer Courage to Lead, and the John Gienapp Awards from the ACGME.Virginia Miraldi Utz, MD is a pediatric ophthalmologist at Cincinnati Children's Hospital Medical Center. She is also a professor in the UC Department of Ophthalmology. Dr. Miraldi Utz is board certified and practices at the Burnet Campus. Her expertise lies in caring for children with general pediatric eye disorders as well as specialized ocular conditions, including uveitis (eye inflammation) and genetic disorders involving the eye and body. She serves on the editorial board for the Ophthalmic Genetics Journal, as chairperson of the American Association for Pediatric Ophthalmology and Strabismus (AAPOS) Pediatric Uveitis Committee and as vice-chair for the AAPOS Genetic Eye Disease Committee.Her dedication to improving visual outcomes and quality of life for children with eye disorders is evident in her commitment to research and clinical practice.Arif O. Khan, MD is Consultant in Pediatric Ophthalmology & Ocular Genetics at Cleveland Clinic Abu Dhabi, where he is responsible for the Pediatric Eye Care Service. Dr. Khan is also Professor of Ophthalmology at Cleveland Clinic Lerner College of Medicine of Case Western University. Previously, through the end of 2015, Dr. Khan was Senior Academic Consultant at the King Khaled Eye Specialist Hospital and Senior Scientist at the King Faisal Specialist Hospital & Research Center, both in Riyadh, Saudi Arabia. Dr. Khan's clinical and research interests are the management and genetics of ocular developmental disorders and strabismus.

ContributorsChapter 1: Epidemiology and World View of Genetic Eye DiseaseDavid A. MackeyChapter 2: Genetic Counseling for Inherited Eye DisordersJoanne E. Sutherland, Alexandria Haseley, & Meghan J. DeBenedictisChapter 3: Breaking Bad NewsMoriah Edwards & Diana BrightmanChapter 4: Vision Rehabilitation of the Patient with Genetic Eye DisorderKelly Lusk & Terry SchwartzChapter 5: Embryology and Development of the EyeRobert B. HufnagelChapter 6: Malformations of the Ocular AdnexaeJessica Crawford, Cameron B. Nabavi, Elias I. Traboulsi, & Jill A. FosterChapter 7: NanophthalmosEduardo Duarte SilvaChapter 8: Anophthalmia, Colobomatous Microphthalmia, and Optic Fissure Closure DefectsMatthew D. Benson, Elias I. Traboulsi, & Brian P. BrooksChapter 9: Cornea PlanaArif O. KhanChapter 10: Malformations of the Anterior Segment of the EyeJames E.H. Smith, Elias I. Traboulsi, & Janey L. WiggsChapter 11: Aniridia and PAX6Robert B. Hufnagel, Reecha S. Bahl, & Elias I. TraboulsiChapter 12: Congenital Anomalies of the Optic NerveMatthew D. Benson, Elias I. Traboulsi, & Brian P. BrooksChapter 13: Congenital Abnormalities of the Retinal Pigment EpitheliumMegan S. Steinkerchner, Arturo Santos, Morton F. Goldberg, & Elias I. TraboulsiChapter 14: Prenatal Imaging of Eye and Ocular AdnexaSaloni Kapoor, Olivia W. Foley, & Arun D. SinghChapter 15: Ocular Manifestations of Syndromes with Craniofacial AbnormalitiesNasrine Anais El-Salloukh & Elias I. TraboulsiChapter 16: Ocular Manifestations of Chromosomal AbnormalitiesLorena M. Haefeli, Sorath Noorani Siddiqui, & Alex V. LevinChapter 17: Clinical Diagnosis of the Child with a Syndrome that Includes Ocular AnomaliesOnochie Ike Okoye & Alex V Levin Chapter 18: Corneal DystrophiesWalter Lisch, Elias I. Traboulsi, Natalie A Afshari, & Dimitri T. AzarChapter 19: The Genetics of Keratoconus and Related DiseasesKatarzyna Jaskiewicz & Marzena GajeckaChapter 20: Genetics of Primary Congenital GlaucomaArif O. KhanChapter 21: Molecular Genetics of Juvenile and Adult-Onset Primary Open Angle GlaucomaMansoor SarfaraziChapter 22: Genetics of CataractAlaa Tayyib, Madhavan Jagadeesan, & Elise HéonChapter 23: Molecular Genetics of Closed Angle GlaucomaElise Héon, Kavin Selvan, Alaa Tayyib, & Ajoy VincentChapter 24: Electrophysiological Testing in Genetic Eye DiseaseRebecca M. Schur, Neal S. Peachey, & Alex YuanChapter 25: Electroretinography in ChildrenWanda L. Pfeifer & Arlene V. DrackChapter 26: Genetic Pathways in Inherited Retinal Disorders and Targets for TherapyAshley Z. Zhou, Esra Sahli, Laura A. Jenny, Jinjie Ling, & Stephen H. TsangChapter 27: Imaging in Inherited Retinal DystrophiesMatthew W. Russell, Elias I. Traboulsi, & Justis P. EhlersChapter 28: Imaging in Congenital and Genetic Optic Nerve AnomaliesTais Estrela, Nathan Troy Tagg, & Mays El-DairiChapter 29: Retinitis PigmentosaDavid G. Birch & Abigail FahimChapter 30: Juvenile RetinoschisisLucia Ziccardi & Paul A. SievingChapter 31: Achromatopsia-Rod MonochromacySusanne Kohl, Stylianos Michalakis, & Katarina StinglChapter 32: Cone Dysfunction Syndromes, Cone Dystrophies, and Cone-Rod DegenerationsSarah Hull & Elias TraboulsiChapter 33: North Carolina Macular Dystrophy (NCMD/MCDR1/MCDR3/PRDM13/IRX1), Progressive Bifocal Chorioretinal Atrophy (PBCRA), and Congenital Posterior Polar Chorioretinal Hypoplasia (CPPCRH)Kent Small & Fadi ShayaChapter 34: BestrophinopathiesFilip Van den Broeck & Bart P. LeroyChapter 35: NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome, Goldmann-Favre Syndrome, Clumped Pigmentary Retinal Degeneration, and Retinitis PigmentosaPascal Escher Chapter 36: Disorders of Color VisionMaureen Neitz & Jay NeitzChapter 37: Stargardt Disease (ABCA4-associated Retinopathies)Virginia Miraldi Utz & Elias I. TraboulsiChapter 38: Congenital Stationary Night BlindnessChristina Zeitz & Isabelle AudoChapter 39: ChoroideremiaIan M. MacDonald, Fay Zhai, Manlong Xu, Alina Radziwon, & Miguel SeabraChapter 40: Leber Congenital Amaurosis and Early-Onset Severe Inherited Retinal Degenerations: Clinical, Genetic, and Therapeutic PerspectivesTomas S. Aleman & Robert K. KoenekoopChapter 41: Norrie Disease, Familial Exudative Vitreoretinopathy, and Other Developmental Retinal Vascular DisordersJohane M. RobitailleChapter 42: Pattern Dystrophies of the RPEKevin C. Allan & Alex YuanChapter 43: Hereditary Optic NeuropathiesVeeral S. Shah, Razek Coussa, & Elias I. TraboulsiChapter 44: The Genetics of Infantile Nystagmus and Associated Inherited DiseasesVeeral S. Shah, Elias I. Traboulsi, & Irene GottlobChapter 45: The Genetics of Strabismus and Associated DisordersMary C. Whitman, Gena Heidary, Elias I. Traboulsi, & Elizabeth C. EngleChapter 46: Mitochondrial Inherited Primary Retinopathies and Optic NeuropathiesRazek Georges Coussa, Tomas S. Aleman, & Marni J. FalkChapter 47: Ectopia Lentis and Associated Systemic DiseaseElias I. Traboulsi, Noor Ghali, & Suneel B. ApteChapter 48: Ocular Manifestations of Peroxisomal DisordersLesley A. Everett & Mark E. PennesiChapter 49: AlbinismAlina V DumitrescuChapter 50: Ocular Manifestations of Neuro-Oculo-Cutaneous SyndromesManikum Moodley, Mary E. Aronow, Karla Robles-Lopez, & Virginia A. Miraldi UtzChapter 51: Ciliopathies: Basic MechanismsBrian D. PerkinsChapter 52: Usher Syndrome: Phenotype and Molecular InsightsSudan Puri, Wadih M. Zein, Sehar Riaz, Robert Hufnagel, Saima Riazuddin, & Zubair M. AhmedChapter 53: Pigmentary Retinopathy in Systemic Inherited DiseaseEduardo Silva, Reecha Bahl, & Elias I. TraboulsiChapter 54: Ocular Manifestations of Inherited Neurodegenerative DisordersLaryssa A. HurynChapter 55: Genetic Inflammatory Diseases with Ocular InvolvementMarci Macaraeg, Arjun Sood, Mehmet Eren Guner, Melis Kabaalioglu Guner, Grant Schulert, Vinit B. Mahajan, Virginia Miraldi Utz, & Sheila T. Angeles-HanChapter 56: Systemic Associations of Eyelid TumorsSaloni Kapoor, Elias I. Traboulsi, & Arun D. SinghChapter 57: Genetic Aspects of Uveal MelanomaValeria Visconte, Nakul Singh, & Arun D. SinghChapter 58: Genetics of RetinoblastomaNasrine Anais El Salloukh & Arun SinghChapter 59: Emerging Instruments for Measuring Patient-Reported Outcomes in Inherited Retinal DiseasesAlejandra M. Maiz, Rebhi Abuzaitoun, & K. Thiran JayasunderaIndex