Download or read book Insights into Genetic Retinal Diseases written by Saber Imani and published by Cambridge Scholars Publishing. This book was released on 2024-02-07 with total page 388 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is the definitive guide to cutting-edge research in genetic retinal diseases. This compilation brings together the collective wisdom of leading experts in the field, offering a comprehensive and up-to-date resource that is as enlightening as it is invaluable. The book focuses on next-generation sequencing, a revolutionary technology that has transformed our understanding of retinal diseases, and it delves deep into the intricacies of this rapidly evolving field, unearthing unknown genetic mutations that underlie these conditions and unveiling innovative diagnostic tools and treatments that hold the promise of transforming lives, as well as sharing the latest developments in a field that holds the key to preserving and restoring one of our most precious senses—vision. With a clear writing style, this book is accessible to researchers, clinicians, and anyone with a curiosity for unraveling the mysteries of genetic retinal diseases.
Download or read book New Insights Into Retinal Degenerative Diseases written by Robert E. Anderson and published by Springer Science & Business Media. This book was released on 2012-12-06 with total page 350 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since 1984, we have organized satellite symposia on retinal degenerations that are held in conjunction with the biennial International Congress of Eye Research. The timing and location of our Retinal Degeneration Symposia have allowed scientists and clinicians from around the world to convene and present their exciting new findings. The symposia have been arranged to allow ample time for discussions and one-on-one interactions in a relaxed atmosphere, where international friendships and collaborations could be established. The IXth International Symposium on Retinal Degeneration was held on October 9-14, 2000 in Durango, Colorado and was attended by over 100 scientists from six continents. This book contains many of their presentations. Several events of note occurred at this meeting. First, thanks to the generous support of the Foundation Fighting Blindness, we were able to sponsor the travel of 11 young scientists from six countries. Most of them have contributed chapters to this volume. The response to the travel program was so overwhelming that we will make it regular feature of our meeting. This will allow other bright, young investigators to be introduced to the world experts who study retinal degenerations. Second, about 40% of the scientists who attended this meeting were there for the first time. We believe that this indicates a growing interest in retinal degeneration research and ensures that new talent will be attracted to this important area of investigation. The symposium received support from several organizations.
Download or read book Insights Into EYS associated Retinal Dystrophies written by M. Messchaert and published by . This book was released on 2019 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Retinal Dystrophies written by Gregory R. Bock and published by John Wiley & Sons. This book was released on 2004-04-02 with total page 226 pages. Available in PDF, EPUB and Kindle. Book excerpt: Retinal dystrophies are the major causes of incurable blindness in the Western world. Our insight into their aetiology has improved remarkably over the past decade and a number of key genes have been identified. Together with a more detailed understanding of disease processes, this knowledge is stimulating new approaches to therapeutic strategies involving gene therapy, growth factors and retinal cell transplantation. Molecular genetic studies have provided detailed information on the pathogenesis of retinal dystrophies. An important proof of principle that gene therapy holds great promise for the treatment of these conditions was demonstrated in the rds mouse: introduction of a functional copy of the peripherin gene subretinally resulted in complete rescue of rod outer segment structure. Novel approaches are being developed based on the manipulation of biochemical pathways that previously were not considered relevant to these diseases. For example, renewed interest in retinal dystrophy pathogenesis led to the successful use of high dose vitamin A treatment in Sorsby fundus dystrophy. This important new book covers all aspects of retinal dystrophies from the molecular and developmental biology of these disorders to possible therapeutic approaches, with special reference to gene therapy. Specific chapters deal with the molecular genetics of gene therapies, clinical genetic studies, molecular and cellular mechanisms of the development of the disease, functional genomics of retinal diseases, animal models of retinal dystrophies, and finally with studies on gene therapeutic approaches to correcting the disorder. With contributions by many of the leading researchers worldwide, this book is likely to be an important milestone in this rapidly developing field.
Download or read book Retinal Degenerative Diseases written by Matthew M. LaVail and published by Springer Science & Business Media. This book was released on 2011-12-21 with total page 867 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book will contain the proceedings of the XIV International Symposium on Retinal Degeneration (RD2010), held July 13-17, 2010, in Mont-Tremblant, Quebec, Canada. 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.
Download or read book Retinal Degenerative Diseases and Experimental Therapy written by Joe G. Hollyfield and published by Springer Science & Business Media. This book was released on 2007-09-04 with total page 553 pages. Available in PDF, EPUB and Kindle. Book excerpt: To create a forum for scientists and clinicians interested in degenerative retinal diseases, we began in 1984 to organize a biennial symposium on Retinal Degeneration as a satellite meeting of the International Congress of Eye Research. The timing and varying location of these meetings provides an important assembly for investigators from throughout the world to convene for presentation of their new findings on the causes and potential therapies for degenerative retinal disorders. The VIII International Symposium on Retinal Degeneration was held from July 28-25, 1998, at the Hotel Vier Jahreszeiten in Schluchsee, a small town in the Black Forest of southwestern Germany. Most of the participants in this meeting contributed to this volume, and we are appreciative of the efforts of each author in making this publication possible. The research presented at the meeting, and described in this proceedings volume, reflects a strong emphasis on the molecular genetic approach to understa- ing these disorders. Several of the papers provide important new insights into the mechanism of photoreceptor degeneration and cell death. A number of the studies are targeted at retarding or reversing the degeneration process. Included for the first time are presentations from all the principal laboratories involved in the field of visual prostheses-implant (chip) technology-in which investigations are targeted at restoring vision in eyes that have lost photoreceptor cells. A variety of diagnostic, clinical, histopathological, and physiological assessments of retinal degeneration in patients are also included.
Download or read book Insights Into Retinal Disease and Aging at Single cell Resolution written by Benjamin Ramy Fadl and published by . This book was released on 2021 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt:
Download or read book Inherited Eye Diseases written by Saul Merin and published by . This book was released on 2005 with total page 798 pages. Available in PDF, EPUB and Kindle. Book excerpt: Covering the entire spectrum of inherited eye diseases, including retinal degenerative disorders that lead to vision loss, this guide devotes entire chapters to specific diseases such as glaucoma and strabismus-offering clinical descriptions, laboratory tests, methods to confirm diagnoses, and insights into disease pathology, epidemiology, and genetics; studies recently identified genes and the identification and management of new eye disorders; reviews the clinical evaluation, prognostic assessment, and management of inherited eye diseases; and presents chapters according to the affected tissue or disease entity-serving as a quick and easily-accessible guide for busy practitioners and optometrists.
Download or read book Insight Into Sight written by Orly Goldstein and published by . This book was released on 2014 with total page 185 pages. Available in PDF, EPUB and Kindle. Book excerpt: As of October 2013, around 285 million people are visually impaired worldwide. For an important subset of these, this visual impairment is genetic. That is, they have inherited mutant genes that prevent sight by affecting an element critical for vision. Understanding the genetic basis of these diseases offers insight into the mechanisms involved in photoreceptor development, function, and maintenance as well as significant potential for therapies addressed at cure or prevention. In recent decades, understanding of the cellular and molecular mechanisms of vision has expanded dramatically. In particular, many genes have been discovered that are vital for normal function of the retina, the delicate, multilayered, light-sensitive layer at the back of the eye that connects by the optic nerve to the brain. Retinitis pigmentosa (RP) is a subgroup of inherited eye diseases causing retinal degeneration. In the U.S.A alone, an estimated 100,000 people have inherited RP, either as an autosomal dominant, autosomal recessive, or X-linked disease. Among these, about 50% of cases of autosomal recessive RP cannot be explained by so far identified genes, and for many of the known genes, their role in vision is unclear. The dog also suffers from inherited eye diseases. The canine disease homolog of RP is referred to as Progressive Retinal Atrophy (PRA). Because of the unique population structure and genetic differences within and among the various breeds of dogs, this animal model offers a remarkable tool for discovering genetic mechanisms in vision and serves as a therapeutic model for potential gene therapy. In the present work, we have investigated nine different canine diseases (OSD, erd, prcd, cd, crd1, crd2, crd3, Basenji PRA, and Italian Greyhound PRA), characterized them, discovered the genes responsible for their phenotype, and determined the broad spectrum of breeds affected by them. These studies utilized classical genetic methods such as linkage and candidate gene approaches, and were expanded to employ Linkage Disequilibrium and Association Studies. We discovered two novel genes, PRCD and STK38L, both of which cause PRA in dogs, but had not previously been recognized as involved in vision or visual disorders, and thereby identified novel pathways critical for vision, as well as genes potentially responsible for human RP. We also identified novel mutations in six known genes (COL9A2, COL9A3, ADAM9, PDE6B, IQCB1, and SAG) that cause five different diseases, and thereby established new animal models for potential gene therapy in their human counterparts. We identified the exact deletion points of the cd disease in a broad spectrum of breeds affected by this disease, showing that they are all inherited Identical By Descent (IBD). We discovered the potential involvement of a microRNA in retinal degeneration in the Italian greyhound PRA, the first such evidence in a large animal model, and the first suggestion that retinal degeneration can be caused by alteration in gene expression regulated by microRNA. We developed screening tests for all the above diseases so these diseases can be eliminated from affected breeding lines. We showed that, in the dog, pooled samples might be used for association studies, when research budgets are limited.
Download or read book Genetic Diseases of the Eye written by Elias I. Traboulsi and published by OUP USA. This book was released on 2012-01-12 with total page 940 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book takes a clinical approach to the patient with a genetic disease that affects the eye. The chapters on particular types of diseases follow the same organizational format, covering history, pathogenesis and etiology, epidemiology, classification, clinical manifestations and diagnosis, and treatment. The recent progress achieved in the molecular genetics of eye disease is fully reflected throughout the book. It is written by leading experts in the field and provides clinical, molecular genetic and management information on common and rare diseases. The chapters are heavily illustrated and provide a good Atlas for the practicing ophthalmologist or geneticist.
Download or read book Retinal Development written by Evelyne Sernagor and published by Cambridge University Press. This book was released on 2012-11-29 with total page 369 pages. Available in PDF, EPUB and Kindle. Book excerpt: This advanced text, first published in 2006, takes a developmental approach to the presentation of our understanding of how vertebrates construct a retina. Written by experts in the field, each of the seventeen chapters covers a specific step in the process, focusing on the underlying molecular, cellular, and physiological mechanisms. There is also a special section on emerging technologies, including genomics, zebrafish genetics, and stem cell biology that are starting to yield important insights into retinal development. Primarily aimed at professionals, both biologists and clinicians working with the retina, this book provides a concise view of vertebrate retinal development. Since the retina is 'an approachable part of the brain', this book will also be attractive to all neuroscientists interested in development, as processes required to build this exquisitely organized system are ultimately relevant to all other parts of the central nervous system.
Download or read book From Genes to Vision written by Javier and published by . This book was released on 2023-11-20 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the fascinating world of ophthalmology, understanding genetic inheritance patterns is crucial for unraveling the mysteries of vision. In this subchapter, we will delve into the intricate mechanisms that govern the transmission of genes related to eye diseases and traits. By comprehending these patterns, students like you can gain a deeper understanding of how genetics influences ophthalmic conditions, paving the way for future breakthroughs in this field. One of the fundamental concepts in genetic inheritance is the distinction between dominant and recessive traits. Dominant traits are those that are expressed even if an individual carries only one copy of the gene responsible for that trait. On the other hand, recessive traits require two copies of the gene to be present for the trait to manifest. Understanding this distinction helps us predict the likelihood of certain eye diseases and traits appearing in individuals and their offspring. Another critical aspect of genetic inheritance is the concept of genetic carriers. Carriers are individuals who possess a recessive gene for a particular trait but do not exhibit any symptoms themselves. This is particularly relevant in ophthalmology, as carriers can unknowingly pass on these genes to their children. By understanding carrier status and inheritance patterns, we can identify individuals who may carry a genetic predisposition to certain eye diseases. Inheritance patterns in ophthalmology can also be influenced by gender. For instance, X-linked inheritance is a pattern in which genes located on the X chromosome are primarily responsible for the development of certain eye conditions. Since males have one X and one Y chromosome, they are more susceptible to X-linked diseases. Females, on the other hand, have two X chromosomes, providing some level of protection against X-linked conditions. Furthermore, genetic inheritance patterns can be further complicated by the phenomenon of genetic mutations. Mutations can occur spontaneously or be inherited from parents and can alter the function of certain genes, leading to the development of eye diseases. By studying these mutations, scientists can gain insights into the underlying causes of these conditions and potentially develop targeted treatments.
Download or read book Retinal Diseases Clinical Perspectives written by Judi Graham and published by American Medical Publishers. This book was released on 2023-09-26 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: The retina is a thin layer of neural tissue that lines the inside of the eye and records visual stimuli. Retinal diseases are various conditions that affect the retina and leads to vision issues. Various retinal problems can result from physiological, environmental or hereditary factors which might result in blindness. Majority of retinal problems can be delayed or prevented if they are detected early. The objective of treatment is to protect and restore eyesight, or to lessen and stop retinal deterioration. Treatment for retinal diseases differs according to the severity and type of condition. Treatment options can include everything from prescription drugs and vitamins to laser therapy, injections and surgery. Various developments in the knowledge, diagnosis and treatment of retinal diseases have become possible by the application of molecular genetic techniques. This book explores all the important aspects of retinal diseases in the present day scenario. It aims to understand the clinical perspectives of these diseases. This book is appropriate for students seeking detailed information in this area of study as well as for experts.
Download or read book Updates on Myopia written by Tien Y Wong and published by . This book was released on 2020-10-08 with total page 310 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is open access under a CC BY 4.0 license. This open access book discusses basic clinical concepts of myopia, prevention of progression and surgical treatments for myopia and pathological myopia. It also summarises the latest evidence and best practices for managing myopia, high myopia and its complications. Written by leading experts, the book addresses clinical diagnosis and interpretation of imaging modalities, and various complications of myopia such as glaucoma, choroidal neovascularization, retinal degeneration and cataracts. It is a valuable comprehensive resource for general and sub-specialist ophthalmologists as well as residents and ophthalmologists in training.; This work was published by Saint Philip Street Press pursuant to a Creative Commons license permitting commercial use. All rights not granted by the work's license are retained by the author or authors.
Download or read book Atlas of Inherited Retinal Diseases written by Stephen H. Tsang and published by Springer. This book was released on 2019-01-12 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This Atlas of Inherited Retinal Disorders provides a thorough overview of various inherited retinal dystrophies with emphasis on phenotype characteristics and how they relate to the most frequently encountered genes. It also meets the previously unmet needs of PhD students who will benefit from seeing the phenotypes of genes they work on and study. Further, because genetic-testing costs are quite high and spiraling higher, this Atlas will help geneticists familiarize themselves with the candidate gene approach to test patients’ genomes, enabling more cost-efficient testing. This invaluable atlas is organized into eight sections starting with an introduction to the basic knowledge on retinal imaging, followed by diseases listed according to inheritance pattern and disorders with extraocular manifestations grouped by defining features. This structure will be intuitive to clinicians and students studying inherited retinal disorders.
Download or read book Molecular Genetic Studies of Childhood Blindness written by Vafa Keser and published by . This book was released on 2013 with total page pages. Available in PDF, EPUB and Kindle. Book excerpt: "Childhood blindness due to hereditary retinal disease represents a huge clinical problem. Morbidity, blindness but also a major lack of understanding the molecular genetic events that lead to blindness in very young children hamper clinical management of this important and common problem. One way to get entry into the disease mechanism of childhood retinal blindness is to study Mendelian disease entities that are caused by relatively straightforward links between mutations in genes that lead to aberrant retinal protein function and the resulting disease phenotype. These discoveries in the Mendelian model would lead to understanding of the genetics, proteomics and most importantly retinal disease mechanisms and cycles that underlie the more complex diseases causing blindness. We have assembled a very exciting collection of 21 consanguineous pedigrees with a devastating autosomal recessive Mendelian disease, nonsyndromic congenital retinal nonattachment (NCRNA) and 16 families with autosomal recessive retinitis pigmentosa (arRP). Our main guiding hypothesis is that a significant portion of NCRNA will be caused by mutations in novel retinal genes as currently only one NCRNA gene is known (ATOH7). These novel genes may give us insight into the disease pathways of retinal detachment itself, a huge and clinically unmet medical need. Adult retinal detachments are common and the disease pathways are unknown.In a preliminary study of our cohort, we performed SNP genotyping where we aimed to identify homozygous (hmz) regions. Homozygous regions contain the causal gene(s) in consanguineous families. We found that in many of our patients known retinal detachment or RP gene(s) resided in one of the top 5 largest homozygous segments documented by the SNP array. Direct sequencing of these genes identified the causal mutations in known retinal genes in 11 out of our 21 retinal detachment families and 2 out of our 16 RP families. Thus, 35% of the patients were successfully genotyped in our study with six novel and seven previously reported mutations in known genes. Interestingly, 65% of our cohort of arRP and NCRNA patients remains genetically undetermined, despite our intensive search. After our prescreening for known mutations in NCRNA and RP genes using a combination of conventional genotyping methods, the genetic defects in 10 NCRNA and 14 RP patients remained unexplained suggesting new gene(s) in those patients. Although the clinical diagnosis of all children was NCRNA, in eight families, the molecular diagnosis determined that the disease process was in fact, familial exudative vitreoretinopathy (FEVR), a rare inherited vitreoretinal dystrophy characterized by the disruption of retinal vascular development (FEVR; MIM 133780), caused by pathogenic variation occurred in LRP5, TSPAN12 and NDP genes. However, the phenotype remains the very severe congenital retinal detachment, previously not known to be associated with FEVR mutations. Therefore, we have expanded the phenotypic spectrum of FEVR, a severe retinal detachment phenotype that clinically overlaps with NCRNA. Also, we identified in our Pakistani cohort, the previously identified large deletion (6523 bp del) in ATOH7 found in the Kurdish founder population of Northern Iranian with a high incidence of NCRNA (Ghiasvand et. al, 2011) [5]. We therefore establish for the first time genetic overlap between the Iranian and Pakistani populations. " --
Download or read book Macular Dystrophies written by Giuseppe Querques and published by Springer. This book was released on 2016-02-15 with total page 128 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides the ophthalmologist with the most recently available data on the macular dystrophies, a group of many different inherited or sporadic eye conditions linked by a problem with photoreceptors or other structures of the central retina. Internationally recognized experts in the field present the latest evidence and discuss their own personal experiences with regard to each of the principal dystrophies as well as some very rare entities. Topics covered include molecular biology, state-of-the-art diagnostic techniques, and the newest treatment options, including still experimental therapies. Attention is also devoted to a range of issues that continue to be debated. The editors have taken care to ensure that chapters are of a uniformly high standard while not sacrificing the originality of the individual authors. Macular Dystrophies will fully acquaint the reader with both the latest research findings and the current and emerging approaches to diagnosis and treatment.
