Wills Eye Handbook of Ocular Genetics

Highly Commended by the BMA Medical Book Awards for Surgical Specialties!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.

Klappentext

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 Features Fundamentals, including basic genetics, inheritance patterns, genetic testing, and ethical issues Patient-centered genetic counseling issues such as reproduction, dealing with emotional reactions, prognosis, and future options Anterior segment disorders - from corneal dystrophies and aniridia - to childhood cataract and microphthalmia A broad spectrum of vitreoretinopathies and retinal diseases including incontinentia pigmenti, retinitis pigmentosa, Bardet-Biedl syndrome, choroideremia, Stargardt disease, achromatopsia, and juvenile X-linked retinoschisis This 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.

Inhalt

1 Basic Genetics
2 Inheritance Patterns
3 Genetic Testing
4 Ethical Issues
5 Corneal Dystrophies
6 Aniridia
7 Peters Anomaly
8 AxenfeldRieger Syndrome
9 Primary Congenital Glaucoma and Juvenile Open Angle Glaucoma
10 Childhood Cataract
11 Microphthalmia
12 Marfan Syndrome and Other Causes of Ectopia Lentis
13 Familial Exudative Vitreoretinopathy
14 Stickler Syndrome
15 VCAN Vitreoretinopathies (Erosive Vitreoretinopathy and Wagner Syndrome)
16 Incontinentia Pigmenti
17 Retinitis Pigmentosa
18 Usher Syndrome
19 BardetBiedl Syndrome
20 ConeRod Dystrophy
21 Choroideremia
22 Enhanced S-Cone Syndrome and Other NR2E3 -Related Retinal Dystrophies
23 Stargardt Disease and Other ABCA4 Retinopathies
24 Best Vitelliform Macular Dystrophy (Best Disease)
25 Leber Congenital Amaurosis
26 Achromatopsia
27 Congenital Stationary Night Blindness
28 Juvenile X-Linked Retinoschisis
29 Retinoblastoma
30 Optic Nerve Hypoplasia
31 Leber Hereditary Optic Neuropathy
32 Complex Ocular Disorders
33 Albinism