Genetic Diseases of the Eye

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.

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.

Contributors

Chapter 1: Epidemiology and World View of Genetic Eye Disease
David A. Mackey

Chapter 2: Genetic Counseling for Inherited Eye Disorders
Joanne E. Sutherland, Alexandria Haseley, & Meghan J. DeBenedictis

Chapter 3: Breaking Bad News
Moriah Edwards & Diana Brightman

Chapter 4: Vision Rehabilitation of the Patient with Genetic Eye Disorder
Kelly Lusk & Terry Schwartz

Chapter 5: Embryology and Development of the Eye
Robert B. Hufnagel

Chapter 6: Malformations of the Ocular Adnexae
Jessica Crawford, Cameron B. Nabavi, Elias I. Traboulsi, & Jill A. Foster

Chapter 7: Nanophthalmos
Eduardo Duarte Silva

Chapter 8: Anophthalmia, Colobomatous Microphthalmia, and Optic Fissure Closure Defects
Matthew D. Benson, Elias I. Traboulsi, & Brian P. Brooks

Chapter 9: Cornea Plana
Arif O. Khan

Chapter 10: Malformations of the Anterior Segment of the Eye
James E.H. Smith, Elias I. Traboulsi, & Janey L. Wiggs

Chapter 11: Aniridia and PAX6
Robert B. Hufnagel, Reecha S. Bahl, & Elias I. Traboulsi

Chapter 12: Congenital Anomalies of the Optic Nerve
Matthew D. Benson, Elias I. Traboulsi, & Brian P. Brooks

Chapter 13: Congenital Abnormalities of the Retinal Pigment Epithelium
Megan S. Steinkerchner, Arturo Santos, Morton F. Goldberg, & Elias I. Traboulsi

Chapter 14: Prenatal Imaging of Eye and Ocular Adnexa
Saloni Kapoor, Olivia W. Foley, & Arun D. Singh
Chapter 15: Ocular Manifestations of Syndromes with Craniofacial Abnormalities
Nasrine Anais El-Salloukh & Elias I. Traboulsi

Chapter 16: Ocular Manifestations of Chromosomal Abnormalities
Lorena M. Haefeli, Sorath Noorani Siddiqui, & Alex V. Levin

Chapter 17: Clinical Diagnosis of the Child with a Syndrome that Includes Ocular Anomalies
Onochie Ike Okoye & Alex V Levin

Chapter 18: Corneal Dystrophies
Walter Lisch, Elias I. Traboulsi, Natalie A Afshari, & Dimitri T. Azar

Chapter 19: The Genetics of Keratoconus and Related Diseases
Katarzyna Jaskiewicz & Marzena Gajecka

Chapter 20: Genetics of Primary Congenital Glaucoma
Arif O. Khan

Chapter 21: Molecular Genetics of Juvenile and Adult-Onset Primary Open Angle Glaucoma
Mansoor Sarfarazi

Chapter 22: Genetics of Cataract
Alaa Tayyib, Madhavan Jagadeesan, & Elise Héon

Chapter 23: Molecular Genetics of Closed Angle Glaucoma
Elise Héon, Kavin Selvan, Alaa Tayyib, & Ajoy Vincent

Chapter 24: Electrophysiological Testing in Genetic Eye Disease
Rebecca M. Schur, Neal S. Peachey, & Alex Yuan

Chapter 25: Electroretinography in Children
Wanda L. Pfeifer & Arlene V. Drack

Chapter 26: Genetic Pathways in Inherited Retinal Disorders and Targets for Therapy
Ashley Z. Zhou, Esra Sahli, Laura A. Jenny, Jinjie Ling, & Stephen H. Tsang

Chapter 27: Imaging in Inherited Retinal Dystrophies
Matthew W. Russell, Elias I. Traboulsi, & Justis P. Ehlers

Chapter 28: Imaging in Congenital and Genetic Optic Nerve Anomalies
Tais Estrela, Nathan Troy Tagg, & Mays El-Dairi

Chapter 29: Retinitis Pigmentosa
David G. Birch & Abigail Fahim

Chapter 30: Juvenile Retinoschisis
Lucia Ziccardi & Paul A. Sieving

Chapter 31: Achromatopsia-Rod Monochromacy
Susanne Kohl, Stylianos Michalakis, & Katarina Stingl

Chapter 32: Cone Dysfunction Syndromes, Cone Dystrophies, and Cone-Rod Degenerations
Sarah Hull & Elias Traboulsi

Chapter 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 Shaya

Chapter 34: Bestrophinopathies
Filip Van den Broeck & Bart P. Leroy

Chapter 35: NR2E3-Linked Retinal Degenerations: Enhanced S-Cone Sensitivity Syndrome, Goldmann-Favre Syndrome, Clumped Pigmentary Retinal Degeneration, and Retinitis Pigmentosa
Pascal Escher

Chapter 36: Disorders of Color Vision
Maureen Neitz & Jay Neitz

Chapter 37: Stargardt Disease (ABCA4-associated Retinopathies)
Virginia Miraldi Utz & Elias I. Traboulsi

Chapter 38: Congenital Stationary Night Blindness
Christina Zeitz & Isabelle Audo

Chapter 39: Choroideremia
Ian M. MacDonald, Fay Zhai, Manlong Xu, Alina Radziwon, & Miguel Seabra

Chapter 40: Leber Congenital Amaurosis and Early-Onset Severe Inherited Retinal Degenerations: Clinical, Genetic, and Therapeutic Perspectives
Tomas S. Aleman & Robert K. Koenekoop

Chapter 41: Norrie Disease, Familial Exudative Vitreoretinopathy, and Other Developmental Retinal Vascular Disorders
Johane M. Robitaille

Chapter 42: Pattern Dystrophies of the RPE
Kevin C. Allan & Alex Yuan

Chapter 43: Hereditary Optic Neuropathies
Veeral S. Shah, Razek Coussa, & Elias I. Traboulsi

Chapter 44: The Genetics of Infantile Nystagmus and Associated Inherited Diseases
Veeral S. Shah, Elias I. Traboulsi, & Irene Gottlob

Chapter 45: The Genetics of Strabismus and Associated Disorders
Mary C. Whitman, Gena Heidary, Elias I. Traboulsi, & Elizabeth C. Engle

Chapter 46: Mitochondrial Inherited Primary Retinopathies and Optic Neuropathies
Razek Georges Coussa, Tomas S. Aleman, & Marni J. Falk

Chapter 47: Ectopia Lentis and Associated Systemic Disease
Elias I. Traboulsi, Noor Ghali, & Suneel B. Apte

Chapter 48: Ocular Manifestations of Peroxisomal Disorders
Lesley A. Everett & Mark E. Pennesi

Chapter 49: Albinism
Alina V Dumitrescu

Chapter 50: Ocular Manifestations of Neuro-Oculo-Cutaneous Syndromes
Manikum Moodley, Mary E. Aronow, Karla Robles-Lopez, & Virginia A. Miraldi Utz

Chapter 51: Ciliopathies: Basic Mechanisms
Brian D. Perkins

Chapter 52: Usher Syndrome: Phenotype and Molecular Insights
Sudan Puri, Wadih M. Zein, Sehar Riaz, Robert Hufnagel, Saima Riazuddin, & Zubair M. Ahmed

Chapter 53: Pigmentary Retinopathy in Systemic Inherited Disease
Eduardo Silva, Reecha Bahl, & Elias I. Traboulsi

Chapter 54: Ocular Manifestations of Inherited Neurodegenerative Disorders
Laryssa A. Huryn

Chapter 55: Genetic Inflammatory Diseases with Ocular Involvement
Marci Macaraeg, Arjun Sood, Mehmet Eren Guner, Melis Kabaalioglu Guner, Grant Schulert, Vinit B. Mahajan, Virginia Miraldi Utz, & Sheila T. Angeles-Han

Chapter 56: Systemic Associations of Eyelid Tumors
Saloni Kapoor, Elias I. Traboulsi, & Arun D. Singh

Chapter 57: Genetic Aspects of Uveal Melanoma
Valeria Visconte, Nakul Singh, & Arun D. Singh

Chapter 58: Genetics of Retinoblastoma
Nasrine Anais El Salloukh & Arun Singh

Chapter 59: Emerging Instruments for Measuring Patient-Reported Outcomes in Inherited Retinal Diseases
Alejandra M. Maiz, Rebhi Abuzaitoun, & K. Thiran Jayasundera

Index