LEADER 05378oam 2200673Ia 450 001 9910781973403321 005 20240129203950.0 010 $a0-19-997518-3 010 $a1-283-34883-7 010 $a9786613348838 010 $a0-19-971697-8 035 $a(CKB)2550000000058064 035 $a(EBL)796043 035 $a(OCoLC)763156921 035 $a(SSID)ssj0000554785 035 $a(PQKBManifestationID)12242687 035 $a(PQKBTitleCode)TC0000554785 035 $a(PQKBWorkID)10517288 035 $a(PQKB)11619927 035 $a(StDuBDS)EDZ0000105126 035 $a(MiAaPQ)EBC796043 035 $a(Au-PeEL)EBL796043 035 $a(CaPaEBR)ebr10506527 035 $a(CaONFJC)MIL334883 035 $a(EXLCZ)992550000000058064 100 $a20110310d2012 uy 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 00$aGenetic diseases of the eye /$fedited by Elias I. Traboulsi 205 $a2nd ed. 210 $aOxford $cOxford University Press$d2012 215 $a1 online resource (940 pages) 225 1 $aOxford monographs on medical genetics ;$v61 300 $aDescription based upon print version of record. 311 0 $a0-19-532614-8 320 $aIncludes bibliographical references. 327 $aCover; 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 327 $a12. 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 327 $a22. 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 327 $a34. 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 327 $a43. 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 330 $aThis highly anticipated new edition brings together an expert group of authors to provide a comprehensive, systematic sourcebook on genetic diseases of the eye. This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. The new edition remains grounded in a sound clinical approach to the patient with a genetic disease that affects the eye. Each chapter emphasizes the clinical aspects of disease, tying them to the underlying molecular mec 410 0$aOxford monographs on medical genetics ;$vno. 61. 606 $aEye$xDiseases$xGenetic aspects 606 $aEye$xAbnormalities 615 0$aEye$xDiseases$xGenetic aspects. 615 0$aEye$xAbnormalities. 676 $a617.7/042 701 $aTraboulsi$b Elias I$01495662 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910781973403321 996 $aGenetic diseases of the eye$93719844 997 $aUNINA