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Glaucoma in children is a potentially disabling disease: early diagnosis and treatment can minimize the visual impairment. The assessment and treatment of a child with glaucoma can be challenging and there is a need for standardization for diagnosis and treatment of these children. The World Glaucoma Association Consensus Series 9 represents a collected wisdom from experienced pediatric glaucoma practitioners worldwide. Most, if not all of the contributors in this Consensus, are members of the worldwide collaboration of pediatric glaucoma specialist: Childhood Glaucoma Research Network (CGRN). The purpose of this publication is to collect in a visual and practical format useful content from the Consensus Series 9 book. The algorithms here represent a reasonable approach to the classification, diagnosis, and treatment of childhood glaucoma. This is not an attempt to establish a standard of care, rather the “roadmaps” in this book are reasonable guidelines to assist the physician who finds themselves in the situation of caring for a child with glaucoma. It is our hope this abbreviation of the Consensus Series 9 on Childhood Glaucoma will be of value to you in the long road of your care of these small and precious patients.
Preface Childhood is the topic of the ninth World Glaucoma Association Consensus. There has been only sparse attention to the diagnosis and treatment of childhood glaucoma. Both pediatric ophthalmologists and glaucoma specialists provide care for such children. In some instances, they manage these individuals alone and, in others, the management is shared. For this consensus, the participation of both groups was solicited. The global faculty, consisting of leading authorities on the clinical and scientific aspects of childhood glaucoma, met in Vancouver on July 16, 2013, just prior to the World Glaucoma Congress, to discuss the reports and refine the consensus statements. As with prior meetings, it was a daunting task to seek and obtain consensus on such a complicated and nuanced subject. It is unclear how each of us decides how we practice, and evidence to guide us often is sparse. It is remarkable how few high level studies have been conducted on the management of childhood glaucoma. Hence, this consensus, as with the others, is based not only on the published literature, but also on expert opinion. Although consensus does not replace and is not a surrogate for scientific investigation, it does provide considerable value, especially when the desired evidence is lacking. The goal of this consensus was to provide a foundation for diagnosing and treating childhood glaucoma and how it can be best done in clinical practice. Identification of those areas for which we have little evidence and, therefore, the need for additional research also was a high priority. We hope that this consensus report will serve as a benchmark of our understanding. However, this consensus report, as with each of the others, is intended to be just a beginning. It is expected that it will be revised and improved with the emergence of new evidence. Robert N. Weinreb, Chair
During the past two decades, our understanding of the molecular genetics of inherited eye diseases, their classification, and management has undergone a huge expansion as the field of human genetics has benefited from technological advances and increased interest by physicians and scientists in all fields. As a result, the amount of clinical and basic-science information on inherited systemic and eye diseases has become so large that general ophthalmologists, ophthalmic subspecialists, and physicians in other fields have found it difficult to keep up. This volume will act as a guide because it catalogues all the latest information about genetic diseases that involve the eye and presents it in a practical and accessible format. After an introductory chapter that reviews basic clinical and molecular-genetic principles, individual diseases and groups of diseases are listed alphabetically in order to make it as easy as possible to search for an entry. The material in each entry is a synthesis of numerous articles and reviews on the topic, accompanied by at least one high-quality illustration, at least one webpage of a patient support group or other organization related to the disease, and references that provide the original description of the disease, an excellent review, or useful illustrations. There is also a companion website containing electronic copies of all the illustrations to make it easy to use them in lectures. Health-care professionals who need immediate access to clinical and basic-science information on inherited systemic and eye diseases will find this volume indispensable.
The size of the problem, can be assessed This book is an off-shoot of the computerized from the following. Of 50 children bom, 1 London Dysmorphology Database which is now widely used by many geneticists and will have an easily detectable major malfor mation. Many of these will have a single dysmorphologists. Both the database and this malformation, but in the region of 8 in 1000 book have arisen out of a need to cope with the ever increasing nurober of multiple will have multiple abnormalities. This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and where infor mation can be found in the Iiterature. Indeed rest needing tobe diagnosed by other means. there are more than 2000 non-chromosomal It is to the diagnosis of this latter group that this book is dedicated. multiple malformation syndromes to which access is essential. If computerized databases have solved THE DIAGNOSIS OF DYSMORPHIC some of the problems, why is there a need SYNDROMES for this book? There are many physicians who do not have a desk computer or do not History feel at ease in using one. In addition geneticists are doing more satellite clinics and Before identifying the specific dysmorphic in some circumstances it would be more features, at least a three generation family history needs to be taken. It is necessary to convenient to carry a book than a computer.
Over 10,000 monographs currently in print about practice and research in the medical and biomedical sciences. Entries arranged by general medical specialties (e.g., allergy, geriatrics, surgery), then by subspecialties or other topics, andthen by authors. Most entries include author, title, publisher, publication, date, pages, price, and brief annotation. Author index.
842 presently recognized birth defect syndromes are described in the Compendium, and 641 photographs of defects are presented in the Atlas. Separate tables of contents appear in English, French, German, and Spanish. Tables. Author index, extensive subject index.