| Edition |
2nd ed. |
| Description |
1 online resource (xv, 923 pages) : illustrations |
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text txt rdacontent |
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computer c rdamedia |
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online resource cr rdacarrier |
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data file |
| Series |
Oxford monographs on medical genetics ; 61 |
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Oxford monographs on medical genetics ; no. 61.
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| Bibliography |
Includes bibliographical references. |
| Summary |
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. |
| Contents |
Cover; Contents; Contributors; 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 |
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12. OCULAR MANIFESTATIONS OF SYNDROMES WITH CRANIOFACIAL ABNORMALITIES13. 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 |
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22. PROTEOMIC BIOMARKERS FOR AGE-RELATED MACULAR DEGENERATION23. 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 SYNDROME, CLUMPED PIGMENTARY RETINAL DEGENERATION, AND RETINITIS PIGMENTOSA; 30. DISORDERS OF COLOR VISION; 31. STARGARDT DISEASE; 32. CONGENITAL STATIONARY NIGHT BLINDNESS; 33. CHOROIDEREMIA |
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34. LEBER CONGENITAL AMAUROSIS: CLINICAL, GENETIC, AND THERAPEUTIC PERSPECTIVES35. FAMILIAL EXUDATIVE VITREORETINOPATHY, NORRIE DISEASE, AND OTHER DEVELOPMENTAL RETINAL VASCULAR DISORDERS; 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 |
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43. ECTOPIA LENTIS AND ASSOCIATED SYSTEMIC DISEASE44. 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; Index; A; B; C; D; E; F; G; H; I; J; K; L; M; N; O; P; Q; R; S; T; U; V; W; X; Y; Z |
| Language |
English. |
| Subject |
Eye -- Diseases -- Genetic aspects.
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Eye -- Abnormalities.
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Eye Diseases, Hereditary |
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Eye Abnormalities |
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Œil -- Maladies -- Aspect génétique.
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Œil -- Malformations.
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HEALTH & FITNESS -- Vision.
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MEDICAL -- Ophthalmology.
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Eye -- Abnormalities
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Eye -- Diseases -- Genetic aspects
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| Added Author |
Traboulsi, Elias I.
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| Other Form: |
Print version: Genetic diseases of the eye. 2nd ed. Oxford : Oxford University Press, 2012 (DLC) 2011010629 |
| ISBN |
9780199716975 (electronic bk.) |
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0199716978 (electronic bk.) |
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0195326148 |
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9780195326147 |
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0199975183 |
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9780199975181 |
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1283348837 |
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9781283348836 |
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9786613348838 |
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661334883X |
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9780195326147 |
| Standard No. |
AU@ 000062594527 |
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DEBSZ 489844871 |
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