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Record Nr. |
UNINA9910810596603321 |
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Titolo |
Genetic diseases of the eye / / edited by Elias I. Traboulsi |
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Pubbl/distr/stampa |
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Oxford, : Oxford University Press, 2012 |
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ISBN |
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0-19-997518-3 |
1-283-34883-7 |
9786613348838 |
0-19-971697-8 |
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Edizione |
[2nd ed.] |
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Descrizione fisica |
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1 online resource (940 pages) |
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Collana |
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Oxford monographs on medical genetics ; ; 61 |
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Altri autori (Persone) |
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Disciplina |
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Soggetti |
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Eye - Diseases - Genetic aspects |
Eye - Abnormalities |
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Lingua di pubblicazione |
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Formato |
Materiale a stampa |
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Livello bibliografico |
Monografia |
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Note generali |
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Description based upon print version of record. |
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Nota di bibliografia |
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Includes bibliographical references. |
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Nota di contenuto |
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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 |
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 |
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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 SYNDROME, CLUMPED PIGMENTARY RETINAL DEGENERATION, AND RETINITIS PIGMENTOSA; 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 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 |
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; 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 |
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Sommario/riassunto |
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This highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text 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. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mec |
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