Table of Contents

Section I: Malformations

1: Embryology of the Eye and the Role of Developmental Genes*
Olof H. Sundin

2: Teratogens and Ocular Malformations
Kerstin Strömland 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 Héon

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

About the Author

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.

Reviews

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*

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.
*Doody's*

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*