We are excited to bring together recent research on the molecular biology of Axenfeld-Rieger syndrome (ARS) disorders. In the following chapters we will review and provide direct evidence for the molecular basis of this group of heterogeneous disorders, which include Rieger syndrome and Rieger anomaly. While ARS patients were initially diagnosed in the early 1930s the genetic basis for ARS was unknown until the recent identification of chromo- somal loci associated with this genetic disorder. In the mid-1990s Drs. Jeffrey C. Murray and Elena V. Semina identified PITX2 through positional cloning tech- niques as a gene associated with ARS. These researchers were able to iden- tify point mutations in PITX2 that were linked with ARS patients. ARS patients presented clinically with several developmental anomalies that fur- ther provided clues about the function of the PITX2 homeobox tran- scription factor. The phenotypic variability of ARS patients indicates that PITX2 can participate with many other faaors to control normal development processes. The hallmarks of ARS developmental anomalies are eye, tooth and umbilical defects. However, abnormal pituitary, heart, and craniofacial development are also detected. Thus, ARS patients provided the first link of PITX2 involvement in the development of these organs and structures. Some of these anomalies are recapitulated in epigenetic and genetic mouse, chick, zebrafish and frog studies which will be reviewed in the following chapters.

Proceedings of the Seventh Symposium of the International Research Group on Colour Vision Deficiencies Held at Centre Medical Universitaire, Geneva, Switzerland, 23-25 June, 1983

Daily rhythms are a ubiquitous feature of living systems. Generally, these rhythms are not just passive consequences of cyclic fluctuations in the environment, but instead originate within the organism. In mammals, including humans, the master pacemaker controlling 24-hour rhythms is localized in the suprachiasmatic nuclei of the hypothalamus (SCN). This circadian clock is responsible for the temporal organization of a wide variety of functions, ranging from sleep and food intake, to physiological measures such as body temperature, heart rate and hormone release. Moreover, accumulating evidence suggests that dysfunction of the circadian rhythms due to genetic mutations or environmental factors (i.e., jet-lag or shift work) contribute to the development of many pathologies, including sleep disorders, mood and affective disorders such as major depression, bipolar disorder and schizophrenia, as well as the risk of metabolic and cardiovascular disorders.

Describes the optical structure and optical properties of the human eye Explains image formation and refraction of the eye Covers interactions between light and the eye, considering transmission, reflection and scatter in the media of the eye and at the fundus Covers aberrations and image quality of the eye

Age-Related Macular Degeneration (AMD) offers a consolidated view of a complex disorder by summarizing the latest evidence-based studies and translating their findings into practical, actionable knowledge. This concise resource covers the fundamentals of AMD diagnosis and treatment. It operates under a modern definition of AMD which acknowledges the range of presentations that ophthalmologists see in practice. Offering practical, clinical guidance in addition to capturing new therapeutic approaches in the pipeline, this book is an essential reference for ophthalmologists, optometrists, and researchers. . Takes a concise yet comprehensive approach to AMD, covering both basic science and clinical guidance. . Features clinical guidelines on the diagnosis and treatment of AMD, including classification, signs/symptoms, imaging, and differential diagnosis in the pre-optical coherence tomography (OCT) and modern OCT eras. . Presents up-to-date information on AMD therapies currently in the development pipeline and offers insights for the future of translational research. . Explains molecular genetics and pathogenic events of AMD from both basic and clinical perspectives, which may help readers seek promising new therapeutic targets . Contains more than 112 full-color illustrations with multimodal imaging techniques that clearly demonstrate AMD pathophysiology and clinical pathology.

This comprehensive report on sight correction through laser surgery provides the practitioner with solid background information from top industry researchers. Carefully illustrated, it details the latest techniques and clinical results in wavefront technology for laser surgery, which is now defining a new standard of practice. This second edition has been significantly expanded to include in-depth descriptions of important new advances as well as glimpses of what the future holds. The book will be indispensable to all wishing to expand their knowledge of customized refractive surgery with an understanding of the underpinning technology.

Proceedings of the International Symposium, Munich, FRG, 16-18 September, 1982

This volume details the latest technology in treating eye injuries and infections. It provides insight into the most up-to-date and established treatment options. The volume focuses on what can currently be achieved with a variety of ocular prostheses as well as what the future holds. Coverage reviews issues such as intraocular lens implants, biocompatibility of materials, retinal implants, testing models, and software designs.

Ocular Telehealth focuses on the latest guidance for the implementation and use of telemedicine in eye care settings. Detailing both benefits and challenges, this consolidated resource combines evidence-based literature with expert perspectives. Practicing and trainee ophthalmologists and optometrists will find this an indispensable resource for understanding the current issues and opportunities surrounding the integration of telemedicine into standard clinical practice. Covers a range of topics, including remote patient monitoring, video communication skills, technology selection, and best practices for ensuring patient data protection. Addresses the challenges associated with integrating telemedicine into clinical practice including reimbursement issues, ethical/legal considerations, implementation strategies, and patient engagement. Features concise chapters written by a team of thought leaders on telemedicine. Consolidates today's available information on this timely topic into a single, convenient resource. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.

This detailed volume introduces the reader to current methods in glaucoma research, in particular those that make use of animal disease models. Given that the retinal ganglion cells damaged and destroyed by glaucoma do not regenerate after lowering the intraocular pressure, new therapeutic approaches that protect ganglion cells directly is a vital research goal that this volume's contents aim to aid scientists in developing. Written in the highly successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible laboratory protocols, and tips on troubleshooting and avoiding known pitfalls. Authoritative and practical, Glaucoma: Methods and Protocols serves as a useful guide for both ophthalmologists in clinical practice and researchers in the field.

Proceedings of the Sixth Symposium of the International Research Group on Colour Vision Deficiencies

Proceedings of the 19th ISCEV Symposium, Horgen-Zurich, Switzerland, June 1-5, 1981

Optical Coherence Tomography represents the ultimate noninvasive ocular imaging technique although being in the field for over two-decades. This book encompasses both medical and technical developments and recent achievements. Here, the authors cover the field of application from the anterior to the posterior ocular segments (Part I) and present a comprehensive review on the development of OCT. Important developments towards clinical applications are covered in Part II, ranging from the adaptive optics to the integration on a slit-lamp, and passing through new structural and functional information extraction from OCT data. The book is intended to be informative, coherent and comprehensive for both the medical and technical communities and aims at easing the communication between the two fields and bridging the gap between the two scientific communities.

Vision and the Visual System offers students, teachers, and researchers a rigorous, yet accessible account of how the brain analyzes the visual scene. Schiller and Tehovnik describe key aspects of visual perception while explaining the relationship between eye movements and the neural structures in the brain, which play a central role in how we process visual information. The book discusses various brain areas involved in processing information, focusing on the evolutionary origins and mechanics behind the several parallel pathways that compose the visual system. Later chapters explain how the nervous system processes the perception of color, motion, depth, and patterns. A variety of illusions are on display in Chapter 14, where the authors provide detailed explanations that deconstruct how the visual system operates to create them. The volume concludes with a discussion of recent attempts to build visual prosthetic devices for blind individuals, of which there are more than 40 million in the world. Vision and the Visual System is based on Professor Schiller's more than 40 years of experience teaching vision courses at MIT, and is tailored especially for college undergraduates and graduate students interested in visual perception and the operations of the visual system.

This book will contain the proceedings of the XV International Symposium on Retinal Degeneration (RD2012). A majority of those who will speak and present posters at the meeting will contribute to this volume. The blinding diseases of inherited retinal degenerations have no treatments, and age-related macular degeneration has no cures, despite the fact that it is an epidemic among the elderly, with 1 in 3-4 affected by the age of 70. The RD Symposium will focus on the exciting new developments aimed at understanding these diseases and providing therapies for them. Since most major scientists in the field of retinal degenerations attend the biennial RD Symposia, they are known by most as the "best" and "most important" meetings in the field. The volume will present representative state-of-the-art research in almost all areas of retinal degenerations, ranging from cytopathologic, physiologic, diagnostic and clinical aspects; animal models; mechanisms of cell death; candidate genes, cloning, mapping and other aspects of molecular genetics; and developing potential therapeutic measures such as gene therapy and neuroprotective agents for potential pharmaceutical therapy. While advances in these areas of retinal degenerations will be described, there will be many new topics that either were in their infancy or did not exist at the time of the last RD Symposium, RD2010. These include the role of inflammation and immunity, as well as other basic mechanisms, in age-related macular degeneration, several new aspects of gene therapy, and revolutionary new imaging and functional testing that will have a huge impact on the diagnosis and following the course of retinal degenerations, as well as to provide new quantitative endpoints for clinical trials. The retina is an approachable part of the central nervous system (CNS), and there is a major interest in neuroprotective and gene therapy for CNS diseases and neurodegenerations, in general. It should be noted that with successful and exciting initial clinical trials in neuroprotective and gene therapy, including the restoration of sight in blind children, the retinal degeneration therapies are leading the way towards new therapeutic measures for neurodegenerations of the CNS. Many of the successes recently reported in these areas of retinal degeneration sprang from collaborations established at previous RD Symposia, and many of those will be reported at the RD2010 meeting and included in the proposed volume. We anticipate the excitement of those working in the field and those afflicted with retinal degenerations will be reflected in the volume.

Proceedings of a Workshop held at the Scuola Normale Superiore, Pisa, Italy on December 12-15, 1980

This book presents a new method for analyzing the structure and function of the biological branching systems of fractal trees, with a focus on microcirculation. Branching systems in humans (vascular and bronchial trees) and those in the natural world (plants, trees, and rivers) are characterized by a fractal nature. To date, fractal studies have tended to concentrate on fractal dimensions, which quantify the complexity of objects, but the applications for practical use have remained largely unexplored. This book breaks new ground with topics that include the human retinal microcirculatory network, oxygen consumption by vascular walls, the F hraeus-Lindqvist effect, the bifurcation exponent, and the asymmetrical microvascular network. Readers are provided with simple formulas to express functions and a simulation graph with in vivo data. The book also discusses the mechanisms regulating blood flow and pressure and how they are related to pathological changes in the human body. Researchers and clinicians alike will find valuable new insights in these pioneering studies.

This is a comprehensive textbook addressing the unique aspects of drug development for ophthalmic use. Beginning with a perspective on anatomy and physiology of the eye, the book provides a critical appraisal of principles that underlie ocular drug product development. The coverage encompasses topical and intraocular formulations, small molecules and biologics (including protein and gene therapies), conventional formulations (including solutions, suspensions, and emulsions), novel formulations (including nanoparticles, microparticles, and hydrogels), devices, and specialty products. Critical elements such as pharmacokinetics, influence of formulation technologies and ingredients, as well as impact of disease conditions on products development are addressed. Products intended for both the front and the back of the eye are discussed with an eye towards future advances.

This volume details the history of Retinitis Pigmentosa and current treatment options. Chapters guide readers through CRISPR, gene therapy, stem cell therapy, next-generation sequencing methods, gene editing, and translational applications of other therapies to the treatment of Retinitis Pigmentosa. Written in the successful Methods in Molecular Biology series format, chapters include introductions to their respective topics, lists of the necessary materials and reagents, step-by-step, readily reproducible protocols, and notes on troubleshooting and avoiding known pitfalls. Authoritative and cutting-edge, Retinitis Pigmentosa aims to be a useful practical guide to researches to help further their study in this field.

This book contains unique cases from Middle Eastern patients that are very rare in other countries and cases not included in other literature on this topic. This could be related to our geographic area as well as social conditions of life. The book collects over 600 pictures of different corneal ulcers/keratitis, including before and after treatment photos over 10 years of practice. The photos regarding corneal ulcers caused by specific and isolated microorganisms with before and after treatment photos will give a comprehensive idea to any clinician how the appearance of the eye will be by the end. This book will include some surgical cases with almost all possible complications as well as corneal tattooing and Boston type 1 keratoprosthesis cases. It will be an ideal reference source for ophthalmologists, residents, and students.