The Wills Eye handbook of ocular genetics

"Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition o...

Full description

Bibliographic Details
Main Author: Levin, Alex V., 1957-
Corporate Author: Wills Eye Hospital (Philadelphia, Pa.)
Other Authors: Zanolli, Mario, Capasso, Jenina
Format: eBook
Language:English
Published: New York Thieme, [2018]
Subjects:
Online Access:EBSCOhost
Перейти в каталог НБ ТГУ
LEADER 05394cam a22006378i 4500
001 koha001013799
003 OCoLC
005 20250222070012.0
006 m d
007 cr cn|||||||||
008 170807s2018 nyua obf 001 0 eng
010 |a  2017037367 
035 |a koha001013799 
040 |a DLC  |b eng  |e rda  |e pn  |c DLC  |d OCLCO  |d OCLCQ  |d N$T  |d OCLCA  |d KOS  |d OCLCO  |d SAV  |d OCLCO  |d OCLCF  |d OCLCO  |d YDX  |d OCLCA  |d LOA  |d OCL  |d COCUF  |d USU  |d CUX 
019 |a 1051040759 
020 |a 9781626232945  |q (electronic bk.) 
020 |a 1626232946  |q (electronic bk.) 
020 |z 9781626232938 
020 |z 1626232938 
042 |a pcc 
050 1 0 |a RE48 
060 1 0 |a WW 140 
060 4 |a WW 39 
072 7 |a MED  |x 085000  |2 bisacsh 
082 0 0 |a 617.7/042  |2 23 
049 |a MAIN 
100 1 |a Levin, Alex V.,  |d 1957-  |9 912541 
245 1 4 |a The Wills Eye handbook of ocular genetics  |c Alex V. Levin, Mario Zanolli, Jenina Capasso 
246 3 |a Handbook of ocular genetics 
263 |a 1804 
264 1 |a New York  |b Thieme,  |c [2018] 
300 |a 1 online resource  |b illustrations 
588 |a Description based on print version record 
504 |a Includes bibliographical references and index 
505 0 |a Basic Genetics -- Inheritance Patterns -- Genetic Testing -- Ethical Issues -- Corneal Dystrophies - Aniridia -- Peters Anomaly -- Axenfeld-Rieger Syndrome -- Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma -- Childhood Cataract - Microphthalmia -- Marfan Syndrome and Other Causes of Ectopia Lentis -- Familial Exudative Vitreoretinopathy -- Stickler Syndrome -- VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome) -- Incontinentia Pigmenti -- Retinitis Pigmentosa -- Usher Syndrome -- Bardet-Biedl Syndrome -- Cone-Rod Dystrophy - Choroideremia -- Enhanced S-Cone Syndrome and Other NR2E3-Related Retinal Dystrophies -- Stargardt Disease and Other ABCA4 Retinopathies -- Best Vitelliform Macular Dystrophy (Best Disease) -- Leber Congenital Amaurosis - Achromatopsia -- Congenital Stationary Night Blindness -- Juvenile X-Linked Retinoschisis - Retinoblastoma -- Optic Nerve Hypoplasia -- Leber Hereditary Optic Neuropathy -- Complex Ocular Disorders - Albinism. 
520 |a "Many serious, potentially blinding eye disorders have a genetic basis. Currently, there are relatively few ocular geneticists in the world, yet inherited eye disease is one of the leading causes of blindness worldwide. Significant strides have been made in gene identification and acquisition of knowledge on the underlying mechanisms of hereditary eye disease. The field of ocular genetics is becoming an increasingly relevant part of ophthalmologists'purview. This has resulted in a dire need for a comprehensive textbook ophthalmologists and other professionals who work with patients with genetic disorders can utilize to gain a better understanding of inherited eye disorders.The Wills Eye Handbook of Ocular Genetics, by Alex Levin, Mario Zanolli, and Jenina Capasso of Wills Eye Hospital, is a practical, reader-friendly guide on the diagnosis and management of ophthalmic genetic conditions. Every chapter begins with a disease overview, followed by relevant modern genetic concepts, pathways to attaining the correct diagnosis, and pitfalls and pearls gleaned from years of hands-on expertise. At the end of each chapter, questions and answers enable readers to test their knowledge in real-life scenarios they might face in everyday practice. The ultimate goal of this clinically robust handbook is to facilitate optimal patient management and outcomes.Key FeaturesFundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issuesPatient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future optionsAnterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmiaA broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisisThis textbook is essential reading for practitioners at all levels and in all subspecialties including ophthalmology and genetics. They will find it an excellent resource for navigating the complexities of genetic eye disease."--Publisher. 
653 0 |a Eye  |x Diseases  |x Genetics  |v Handbooks, manuals, etc. 
653 0 |a Eye  |x Diseases. 
653 0 |a Genetic diseases and disorders. 
653 7 |a MEDICAL / Surgery / General  |2 bisacsh 
653 2 |a Eye Diseases, Hereditary  |x genetics. 
653 2 |a Eye Diseases, Hereditary  |x therapy. 
653 7 |a Eye  |x Diseases.  |2 fast  |0 (OCoLC)fst00919133 
655 0 |a EBSCO eBooks  |9 905790 
655 4 |a Electronic books.  |9 899821 
655 7 |a Handbooks and manuals.  |2 lcgft  |9 900333 
655 2 |a Handbook.  |9 906604 
655 2 |a Case Reports.  |9 906227 
700 1 |a Zanolli, Mario,  |9 912542 
700 1 |a Capasso, Jenina,  |9 912543 
710 2 |a Wills Eye Hospital (Philadelphia, Pa.)  |9 910190 
856 4 0 |3 EBSCOhost  |u https://www.lib.tsu.ru/limit/2023/EBSCO/1664770.pdf 
856 |y Перейти в каталог НБ ТГУ  |u https://koha.lib.tsu.ru/cgi-bin/koha/opac-detail.pl?biblionumber=1013799 
910 |a EBSCO eBooks 
999 |c 1013799  |d 1013799 
039