Genetic Diseases of the Eye

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 DiseaseDavid A. Mackey Chapter 2: Genetic Counseling for Inherited Eye DisordersJoanne E. Sutherland, Alexandria Haseley, & Meghan J. DeBenedictis Chapter 3: Breaking Bad NewsMoriah Edwards & Diana Brightman Chapter 4: Vision Rehabilitation of the Patient with Genetic Eye DisorderKelly Lusk & Terry Schwartz Chapter 5: Embryology and Development of the EyeRobert B. Hufnagel Chapter 6: Malformations of the Ocular AdnexaeJessica Crawford, Cameron B. Nabavi, Elias I. Traboulsi, & Jill A. Foster Chapter 7: NanophthalmosEduardo Duarte Silva Chapter 8: Anophthalmia, Colobomatous Microphthalmia, and Optic Fissure Closure DefectsMatthew D. Benson, Elias I. Traboulsi, & Brian P. Brooks Chapter 9: Cornea PlanaArif O. Khan Chapter 10: Malformations of the Anterior Segment of the EyeJames E.H. Smith, Elias I. Traboulsi, & Janey L. Wiggs Chapter 11: Aniridia and PAX6Robert B. Hufnagel, Reecha S. Bahl, & Elias I. Traboulsi Chapter 12: Congenital Anomalies of the Optic NerveMatthew D. Benson, Elias I. Traboulsi, & Brian P. Brooks Chapter 13: Congenital Abnormalities of the Retinal Pigment EpitheliumMegan S. Steinkerchner, Arturo Santos, Morton F. Goldberg, & Elias I. Traboulsi Chapter 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. Traboulsi Chapter 16: Ocular Manifestations of Chromosomal AbnormalitiesLorena M. Haefeli, Sorath Noorani Siddiqui, & Alex V. Levin Chapter 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. Azar Chapter 19: The Genetics of Keratoconus and Related DiseasesKatarzyna Jaskiewicz & Marzena Gajecka Chapter 20: Genetics of Primary Congenital GlaucomaArif O. Khan Chapter 21: Molecular Genetics of Juvenile and Adult-Onset Primary Open Angle GlaucomaMansoor Sarfarazi Chapter 22: Genetics of CataractAlaa Tayyib, Madhavan Jagadeesan, & Elise Héon Chapter 23: Molecular Genetics of Closed Angle GlaucomaElise Héon, Kavin Selvan, Alaa Tayyib, & Ajoy Vincent Chapter 24: Electrophysiological Testing in Genetic Eye DiseaseRebecca M. Schur, Neal S. Peachey, & Alex Yuan Chapter 25: Electroretinography in ChildrenWanda L. Pfeifer & Arlene V. Drack Chapter 26: Genetic Pathways in Inherited Retinal Disorders and Targets for TherapyAshley Z. Zhou, Esra Sahli, Laura A. Jenny, Jinjie Ling, & Stephen H. Tsang Chapter 27: Imaging in Inherited Retinal DystrophiesMatthew W. Russell, Elias I. Traboulsi, & Justis P. Ehlers Chapter 28: Imaging in Congenital and Genetic Optic Nerve AnomaliesTais Estrela, Nathan Troy Tagg, & Mays El-Dairi Chapter 29: Retinitis PigmentosaDavid G. Birch & Abigail Fahim Chapter 30: Juvenile RetinoschisisLucia Ziccardi & Paul A. Sieving Chapter 31: Achromatopsia-Rod MonochromacySusanne Kohl, Stylianos Michalakis, & Katarina Stingl Chapter 32: Cone Dysfunction Syndromes, Cone Dystrophies, and Cone-Rod DegenerationsSarah 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: BestrophinopathiesFilip 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 PigmentosaPascal Escher Chapter 36: Disorders of Color VisionMaureen Neitz & Jay Neitz Chapter 37: Stargardt Disease (ABCA4-associated Retinopathies)Virginia Miraldi Utz & Elias I. Traboulsi Chapter 38: Congenital Stationary Night BlindnessChristina Zeitz & Isabelle Audo Chapter 39: ChoroideremiaIan 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 PerspectivesTomas S. Aleman & Robert K. Koenekoop Chapter 41: Norrie Disease, Familial Exudative Vitreoretinopathy, and Other Developmental Retinal Vascular DisordersJohane M. Robitaille Chapter 42: Pattern Dystrophies of the RPEKevin C. Allan & Alex Yuan Chapter 43: Hereditary Optic NeuropathiesVeeral S. Shah, Razek Coussa, & Elias I. Traboulsi Chapter 44: The Genetics of Infantile Nystagmus and Associated Inherited DiseasesVeeral S. Shah, Elias I. Traboulsi, & Irene Gottlob Chapter 45: The Genetics of Strabismus and Associated DisordersMary C. Whitman, Gena Heidary, Elias I. Traboulsi, & Elizabeth C. Engle Chapter 46: Mitochondrial Inherited Primary Retinopathies and Optic NeuropathiesRazek Georges Coussa, Tomas S. Aleman, & Marni J. Falk Chapter 47: Ectopia Lentis and Associated Systemic DiseaseElias I. Traboulsi, Noor Ghali, & Suneel B. Apte Chapter 48: Ocular Manifestations of Peroxisomal DisordersLesley A. Everett & Mark E. Pennesi Chapter 49: AlbinismAlina V Dumitrescu Chapter 50: Ocular Manifestations of Neuro-Oculo-Cutaneous SyndromesManikum Moodley, Mary E. Aronow, Karla Robles-Lopez, & Virginia A. Miraldi Utz Chapter 51: Ciliopathies: Basic MechanismsBrian D. Perkins Chapter 52: Usher Syndrome: Phenotype and Molecular InsightsSudan Puri, Wadih M. Zein, Sehar Riaz, Robert Hufnagel, Saima Riazuddin, & Zubair M. Ahmed Chapter 53: Pigmentary Retinopathy in Systemic Inherited DiseaseEduardo Silva, Reecha Bahl, & Elias I. Traboulsi Chapter 54: Ocular Manifestations of Inherited Neurodegenerative DisordersLaryssa A. Huryn Chapter 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-Han Chapter 56: Systemic Associations of Eyelid TumorsSaloni Kapoor, Elias I. Traboulsi, & Arun D. Singh Chapter 57: Genetic Aspects of Uveal MelanomaValeria Visconte, Nakul Singh, & Arun D. Singh Chapter 58: Genetics of RetinoblastomaNasrine Anais El Salloukh & Arun Singh Chapter 59: Emerging Instruments for Measuring Patient-Reported Outcomes in Inherited Retinal DiseasesAlejandra M. Maiz, Rebhi Abuzaitoun, & K. Thiran Jayasundera Index