Genetic Diseases of the Eye.

Genetic Diseases of the Eye.

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...

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Bibliographic Details
Main Author: MD, Elias I. Traboulsi
Format: eBook
Language:English
Published: Oxford : Oxford University Press, USA, 2011.
Edition:2nd ed.
Series:Oxford Monographs on Medical Genetics,13.
Subjects:
Eye > Diseases > Genetic aspects.
Eye > Abnormalities.
Eye > Abnormalities
Eye > Diseases > Genetic aspects
Online Access:Click for online access
Table of 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.
  • 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.
  • 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.
  • 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.
  • 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.

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