Genetic Diseases of the Eye 2nd Edition by Elias Traboulsi 9780195326147 0195326148
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Product details:
ISBN 10: 0195326148
ISBN 13: 9780195326147
Author: Elias I. Traboulsi
This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic resource on genetic diseases of the eye. This richly illustrated title covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Oxford Genetics is a comprehensive, cross-searchable collection of resources offering quick and easy access to Oxford University Press’s prestigious genetics texts. Joining Oxford Medicine Online these resources offer students, specialists and clinical researchers the best quality content in an easy-to-access format. Online only benefits include downloading images and figures to PowerPoint and downloading chapters to PDF.
Table of contents:
SECTION ONE: MALFORMATIONS
1. EMBRYOLOGY OF THE EYE AND THE ROLE OF DEVELOPMENTAL GENES
2. TERATOGENS AND OCULAR MALFORMATIONS
3. MALFORMATIONS OF THE OCULAR ADNEXAE
4. NANOPHTHALMOS
5. ANOPHTHALMIA, COLOBOMATOUS, MICROPHTHALMIA, AND OPTIC FISSURE CLOSURE DEFECTS
6. CORNEA PLANA
7. MALFORMATIONS OF THE ANTERIOR SEGMENT OF THE EYE
8. ANIRIDIA
9. CONGENITAL ANOMALIES OF THE OPTIC NERVE
10. CONGENITAL ABNORMALITIES OF THE RETINAL PIGMENT EPITHELIUM
11. PRENATAL IMAGING OF THE EYE AND OCULAR ADNEXAE
12. OCULAR MANIFESTATIONS OF SYNDROMES WITH CRANIOFACIAL ABNORMALITIES
13. OCULAR MANIFESTATIONS OF CHROMOSOMAL ABNORMALITIES
SECTION TWO: REFRACTIVE ERRORS, CORNEA, GLAUCOMA, AND CATARACTS
14. INHERITANCE OF REFRACTIVE ERRORS
15. CORNEAL DYSTROPHIES
16. THE GENETICS OF KERATOCONUS
17. MOLECULAR GENETICS OF PRIMARY CONGENITAL GLAUCOMA
18. MOLECULAR GENETICS OF PRIMARY OPEN-ANGLE GLAUCOMA
19. GENETICS OF CONGENITAL CATARACTS
SECTION THREE: RETINA AND OPTIC NERVE
20. RETINAL FUNCTION TESTING AND GENETIC DISEASE
21. GENETIC PATHWAYS IN RETINAL DEGENERATIONS AND TARGETS FOR THERAPY
22. PROTEOMIC BIOMARKERS FOR AGE-RELATED MACULAR DEGENERATION
23. RETINITIS PIGMENTOSA
24. JUVENILE RETINOSCHISIS
25. ACHROMATOPSIA–ROD MONOCHROMACY
26. CONE DYSFUNCTION SYNDROMES, CONE DYSTROPHIES, AND CONE–ROD DEGENERATIONS
27. NORTH CAROLINA MACULAR DYSTROPHY/MCRD1
28. BESTROPHINOPATHIES
29. NR2E3-LINKED RETINAL DEGENERATIONS: ENHANCED S-CONE SENSITIVITY SYNDROME, GOLDMANN-FAVRE SYNDROM
30. DISORDERS OF COLOR VISION
31. STARGARDT DISEASE
32. CONGENITAL STATIONARY NIGHT BLINDNESS
33. CHOROIDEREMIA
34. LEBER CONGENITAL AMAUROSIS: CLINICAL, GENETIC, AND THERAPEUTIC PERSPECTIVES
35. FAMILIAL EXUDATIVE VITREORETINOPATHY, NORRIE DISEASE, AND OTHER DEVELOPMENTAL RETINAL VASCULAR D
36. HEREDITARY VITREORETINOPATHIES
37. GENETICS OF AGE-RELATED MACULOPATHY
38. PATTERN DYSTROPHIES OF THE RPE
39. HEREDITARY OPTIC NEUROPATHIES
40. PIGMENTARY RETINOPATHY IN SYSTEMIC INHERITED DISEASE
SECTION FOUR: EYE MOVEMENT DISORDERS
41. THE GENETICS OF NYSTAGMUS AND ASSOCIATED INHERITED DISEASES
42. THE GENETICS OF STRABISMUS AND ASSOCIATED DISORDERS
SECTION FIVE: SYSTEMIC DISEASE AND THE EYE
43. ECTOPIA LENTIS AND ASSOCIATED SYSTEMIC DISEASE
44. PEROXISOMAL DISORDERS
45. ALBINISM
46. THE PHAKOMATOSES
SECTION SIX: CANCER GENETICS AND THE EYE
47. SYSTEMIC ASSOCIATIONS OF EYELID TUMORS
48. GENETIC ASPECTS OF UVEAL MELANOMA
49. GENETICS OF RETINOBLASTOMA
SECTION SEVEN: TREATMENT
50. VISION REHABILITATION OF THE PATIENT WITH GENETIC EYE DISEASE
51. GENETIC COUNSELING FOR GENETIC EYE DISORDERS
52. GENE THERAPY FOR OCULAR DISEASES
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Tags: Elias Traboulsi, Genetic, Diseases, Eye