Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute. He is Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case University and Director of the Ophthalmology Residency Program at the Cleveland Clinic Foundation. He also serves as Vice-Chairman for Education at the Cole Eye Institute and Chairman of Graduate Medical Education at the Cleveland Clinic. He is Past President of The International Society for Genetic Eye Diseases and Retinoblastoma and its current executive vice-president. He has been the Editor-In-Chief of Ophthalmic Genetics sine 1992. He has authored more than 300 scientific articles and book chapters.

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!"

• 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 ; 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

Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute. He is Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case University and Director of the Ophthalmology Residency Program at the Cleveland Clinic Foundation. He also serves as Vice-Chairman for Education at the Cole Eye Institute and Chairman of Graduate Medical Education at the Cleveland Clinic. He is Past President of The International Society for Genetic Eye Diseases and Retinoblastoma and its current executive vice-president. He has been the Editor-In-Chief of Ophthalmic Genetics sine 1992. He has authored more than 300 scientific articles and book chapters.

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!"

• 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 ; 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

Head of the Department of Pediatric Ophthalmology and the Director of the Center for Genetic Eye Diseases at The Cleveland Clinic Cole Eye Institute. He is Professor of Ophthalmology at the Cleveland Clinic Lerner College of Medicine of Case University and Director of the Ophthalmology Residency Program at the Cleveland Clinic Foundation. He also serves as Vice-Chairman for Education at the Cole Eye Institute and Chairman of Graduate Medical Education at the Cleveland Clinic. He is Past President of The International Society for Genetic Eye Diseases and Retinoblastoma and its current executive vice-president. He has been the Editor-In-Chief of Ophthalmic Genetics sine 1992. He has authored more than 300 scientific articles and book chapters.

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!"

• 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 ; 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