Ординатура / Офтальмология / Английские материалы / Ocular Differential Diagnosis 7th edition_Roy_2002

7. Facioscapulohumeral muscular dystrophy (FSH [facio scapulo numeral] syndrome) 8. Incontinentia pigmenti I (Blockâ??Sulzberger syndrome)

9. Familial exudative vitreoretinopathy (Criswickâ??Schepens syndrome)

10. Hemoglobin C trait

11. Leukemia

12. Long-standing retinal detachment

13. Lupus erythematosus

14. Macroglobulinemia

15. Multiple sclerosis

16. Polycythemia vera (erythremia)

17. *Retinopathy of prematurity

18. Sarcoidosis syndrome

19. *Sickle cell disease

20. Talc and cornstarch emboli

21. Uveitis, including pars planitis

Gurwin EB, et al. Retinal telangiectasis in facioscapulohumeral muscular dystrophy with deafness. Arch Ophthalmol 1985;103:1695â??1707.Bibliographic Links

Jampol LM, Goldberg MH. Peripheral proliferative retinopathies. Surv Ophthalmol 1980;25:1â??14.Bibliographic Links

Rodgers R, et al. Ocular involvement in congenital leukemia. Am J Ophthalmol 1986;101:730â??732.Bibliographic Links

Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.

Retinal Vessels Displaced Temporally

1. Familial vitreoretinopathy

2. Hamartomas

P.515

3. Inflammation

4. Myopia with lattice-like retinal degeneration

5. *Retinopathy of prematurity

6. *Sickle cell disease (drepanocytic anemia)

7. Trauma

Ballantyne AJ, Michaelson IC. Textbook of the fundus of the eye, 3rd ed. Baltimore: Williams & Wilkins, 1981.

Nover A. The ocular fundus: methods of examination and typical findings, 4th ed. Philadelphia: Lea & Febiger, 1981.

Retinal Vessels Displaced Nasally

1. Axial myopia

2. *Glaucoma

3. Inflammation

4. Trauma

Ballantyne AJ, Michelson IC. Textbook of the fundus of the eye, 3rd ed. Baltimore: Williams & Wilkins, 1981.

Nover A. The ocular fundus: methods of examination and typical findings, 4th ed. Philadelphia: Lea & Febiger, 1981.

Peripheral Fundus Lesions

1. Pale raised lesions

A.Vitreous opacitiesâ??white fluffy or discrete opacities, associated with pars planitis or sarcoid uveitis

B.Retinopathy of prematurityâ??retinal edema and dense white lesions with neovascularization

C.Toxocariasis (nematode ophthalmia syndrome)â??vitreous opacities with peripheral granuloma

D.Leprosy (Hansen disease)â??peripheral exudates with anterior uveal involvement

E.Vitreoretinal dystrophiesâ??bands in vitreous with retinoschisis or retinal detachment

F.Angiomatosisâ??retinal tumor with enlarged, feeding vessels

G.*Retinoblastomaâ??raised, creamy-white, fluffy lesion without inflammatory signs

2. Flat lesions

A.Colobomaâ??pale area with pigmented edge in region of fetal cleft

B.Chorioretinitis

1. Disseminated, congenital syphilisâ??pepper-and-salt or larger confluent lesions 2. Toxoplasmosisâ??pigmented scars of old lesions

3. Cytomegalic inclusion diseaseâ??localized chorioretinitis or general peripheral infiltration

4. *Histoplasmosisâ??peripheral punched-out lesions with or without pigmentation

C.Peripheral degenerations

1. Senile changesâ??of eyes older than years of age, depigmented areas with pigmented margins (cobblestone degeneration)

2. Secondary pigmentary degenerationâ??peripheral pigmentary changes similar to senile type or to retinitis pigmentosa

3. Cystoid degenerationâ??multiple cystic spaces and thin areas in peripheral retina 4. *Lattice degenerationâ??lace work of white lines with depigmented and pigmented

patches

5. Cystinosis (cystine storage aminoaciduria dwarfism syndrome)â??granular rings of pigment in periphery of fundus, similar to cobblestone degeneration

D.Equatorial linear pigment disturbance

1. Ophthalmomyiasis internal

2. Histoplasmosis syndrome

E.Retinitis

1. *Acute retinal necrosis

2. *Cytomegalovirus retinitis

P.516

3. Dark raised lesions

A.Choroidal detachment (see p. 532â??535)

1. Spontaneousâ??slowly progressive detachment, no inflammatory signs

2. *Postoperativeâ??intraocular operation; particularly for cataract and glaucoma; shallow anterior chamber; leaking wound

3. Exudative

a.Inflammatoryâ??shallow anterior chamber, myopia, and peripheral detachment

b.Vascularâ??nephritis, hypertension, toxemia of pregnancy, polyarteritis nodosa, leukemia

c.*Tumorsâ??intraocular tumors; tumors of orbit and lacrimal gland

d.Traumaticâ??contusion injuries, perforating wounds, hypotony, anterior chamber may be shallow or deep if perforation occurs posteriorly

B.Exudative retinal detachment (see p. 487)

1. *Secondary to general disease with retinopathyâ??hypertension, toxemia of pregnancy, leukemia, dysproteinemia, polyarteritis nodosa, rickettsial arteritis, venous congestion, talc and cornstarch emboli

2. Secondary to local disease of the eyeâ??inflammatory signs with exudative detachment, Harada disease, sympathetic ophthalmitis, scleritis, tenonitis, choroidal tumor, and ophthalmomyiasis

C.Simple detachmentâ??myopia in two thirds of patients, trauma, may follow cataract extraction or discission for congenital cataract

D.Cysts

1. Ciliary bodyâ??larger cysts usually push iris forward; rarely, cyst extends backward to be seen ophthalmoscopically

2. Pars planaâ??may enlarge and appear as a multilocular reddish-brown cyst

E.Scleral indentationâ??retinal detachment operation

F.Neoplasms of ciliary body

1. Benign epitheliomaâ??brown spot to 2 mm in diameter on surface of ciliary body 2. *Other tumorsâ??diktyoma, leiomyoma, reticuloses, neurofibroma, malignant

melanoma, rare, usually present as a mass protruding through the root of iris; may cause glaucoma; dark bulge seen ophthalmoscopically; lens changes adjacent to tumor

G.Neoplasms of choroid

1. Congenital melanosisâ??cat's-paw patches of pigment in one sector of fundus 2. Choroidal nevusâ??flat, bluish gray or black lesion

3. *Malignant melanomaâ??raised, pigmented lesion with secondary detachment 4. Secondary metastaticâ??rare, primary lesion in breast, lung, and so on

4. Vascular lesions

A.Periphlebitis (Eales disease) common; young adults; sheathing of peripheral veins; hemorrhages in new vessels and later retinal detachment (see p. 487)

B.*Perivasculitis secondary to uveitisâ??perivascular infiltration, particularly in pars planitis, sarcoidosis, Behçet disease, and toxoplasmosis

C.Systemic diseases

1. Rickettsiaâ??engorgement of veins, retinal edema, hemorrhages, and exudates P.517

2. Multiple sclerosis (disseminated sclerosis)â??sheathing of veins (see p. 468)

3. Polyarteritis nodosa (necrotizing angiitis)â??hemorrhages, exudates, and serous detachment of retina (see p. 488)

4. Tuberculin or BCG inoculationâ??rare, sheathing of peripheral veins with hemorrhages

5. *Sickle cell retinopathy (Herrick syndrome)â??dilatation of peripheral veins, hemorrhages, and connective tissue sheets in periphery; new vessel formation

Mason GI. Bilateral ophthalmomyiasis interna. Am J Ophthalmol 1981;91:65â??70.Bibliographic Links

Perkins ES, Dobree JH. The differential diagnosis of fundus conditions. St. Louis: CV Mosby, 1972.

Tasman W, Shields JA. Disorders of the peripheral fundus. New York: Harper & Row, 1980.

Retinal Disease Associated with Corneal Problems

1. Abdominal typhus (enteric fever)â??corneal ulcer, retinal detachment, central retinal artery emboli

2. Acanthamoebaâ??keratitis, pannus, corneal ring abscess, retinal perivasculitis

3. African eyeworm diseaseâ??keratitis, central retinal artery occlusion, macular hemorrhages 4. Amyloidosisâ??amyloid corneal deposits, corneal dystrophy, retinal hemorrhages

5. Andersonâ??Warburg syndrome (oligophrenia-microphthalmos syndrome)â??corneal opacification, malformed retina with retina pseudotumors

6. Angioedema (hives)â??central serous retinopathy, corneal edema

7. *Anterior segment ischemia syndromeâ??corneal edema midperiphery retinal hemorrhages 8. Apert syndrome (acrodysplasia)â??exposure keratitis, retinal detachment

9. Arteriovenous fistulaâ??bullous keratopathy, retinal hemorrhages

10. Aspergillosisâ??corneal ulcer, keratitis, retinal hemorrhages, retinal detachment

11. Atopic dermatitisâ??keratoconus and retinal detachment

12. Avitaminosis Câ??retinal hemorrhages, keratitis, corneal ulcer 13. Bacillus cereusâ??ring abscess of cornea, necrosis of retina

14. Bang disease (brucellosis)â??keratitis, chorioretinitis, macular edema

15. Behçet syndrome (dermatostomata-ophthalmic syndrome)â??keratitis, posterior corneal abscess, retinal vascular changes

16. Bietti disease (Bietti marginal crystalline dystrophy)â??marginal corneal dystrophy, retinitis punctate albescens

17. Candidiasisâ??keratitis, corneal ulcer, retinal atrophy, retinal detachment

18. *Carotid artery syndromeâ??corneal ulcer, loss of corneal sensation, retinal edema, engorgement of retinal veins

19. Chickenpox (varicella)â??corneal ulcer, corneal opacity, retinitis, hemorrhagic retinopathy 20. Chloroquineâ??corneal epithelial pigmentation, macular lesions

21. Chronic granulomatous disease of childhoodâ??keratitis, destructive chorioretinal lesions 22. Cockayne syndrome (dwarfism with retinal atrophy and deafness)â??pigmentary

degeneration, band keratopathy, corneal dystrophy

P.518

23. Crohn disease (granulomatous ileocolitis)â??marginal corneal ulcers, keratitis, macular edema, macular hemorrhages

24. Cryoglobulinemiaâ??deep corneal opacities, venous stasis

25. Cystinosis (aminoaciduria)â??crystals in cornea and pigment in retina 26. Dengue feverâ??keratitis, corneal ulcer, retinal hemorrhages

27. Diffuse keratoses syndromeâ??corneal nodular thickening in the stroma worse in fall,

retinal phlebitis

28. Diphtheriaâ??keratitis, corneal ulcer, central artery occlusion

29. Disseminated lupus erythematosus (Kaposiâ??Libmanâ??Sacks syndrome)â??keratitis, keratoconjunctivitis sicca, corneal ulcer, central retinal vein occlusion, retinal detachment

30. Ehlersâ??Danlos syndrome (cutis hyperelastica)â??keratoconus, and retinitis pigmentosa 31. Electrical injuryâ??corneal perforation, retinal edema, retinal hemorrhages, pigmentary

degeneration, retinal holes, dilatation of retinal veins

32. Fabry disease (diffuse angiokeratosis)â??whorl-like changes in cornea, central retinal artery occlusion, tortuosity of retinal vessels

33. Goldscheider syndrome (epidermolysis bullosa)â??bullous keratitis with opacities, retinal detachment

34. Gronbladâ??Strandberg syndrome (systemic elastodystrophy)â??angioid streaks of the retina, macular hemorrhages, retinal detachment, keratoconus

35. Hammanâ??Rich syndrome (alveolar capillary block syndrome)â??keratomalacia ischemic retinopathy, cystic macular changes

36. Heerfordt syndrome (uveoparotid fever)â??band keratopathy, retinal vasculitis

37. Hennebert syndrome (luetic otitic nystagmus syndrome)â??interstitial keratitis, disseminated syphilitic chorioretinitis

38. Histiocytosis X (Handâ??Schüllerâ??Christian syndrome)â??retinal hemorrhage, retinal detachment, bullous keratopathy, corneal ulcer, pannus

39. Hodgkin diseaseâ??keratitis, retinal hemorrhages

40. Hollenhorst syndrome (chorioretinal infarction syndrome)â??hazy cornea, serous retinal detachment, pigmentary retinopathy

41. Hunter syndrome (MPS II)â??splitting or absence of peripheral Bowman membrane, stromal haze, pigmentary retinal degeneration, narrowed retinal vessels

42. Hurlerâ??Scheie syndrome (MPS IH-S)â??corneal clouding, pigmentary retinopathy 43. Hurler syndrome (gargoylism)â??diffuse corneal haziness, retinal pigmentary changes,

megalocornea, retinal detachment

44. Hydatid cyst (echinococcosis)â??keratitis, abscess of cornea, retinal detachment, retinal hemorrhages

45. Hyperlipoproteinemiaâ??arcus juvenilis, lipemia retinalis, xanthomata of retina

46. Hyperparathyroidismâ??band keratopathy, vascular engorgement of retina

47. Hypovitaminosis Aâ??keratomalacia with perforation, corneal opacity, retinal degeneration 48. Idiopathic hypercalcemia (blue-diaper syndrome)â??band keratopathy, optic atrophy,

papilledema

49. Indomethacinâ??corneal deposits, reduced retinal sensitivity

50. Influenzaâ??keratitis, retinal hemorrhage

51. Japanese River fever (typhus)â??keratitis, retinal hemorrhages

52. Juvenile rheumatoid arthritis (Still disease)â??band keratopathy, macular edema

53. Kahler disease (multiple myeloma)â??crystalline deposits of cornea, central retinal artery occlusion, retinal microaneurysms

P.519

54. Kussmaul disease (periarteritis nodosa)â??retinal detachment, pseudoretinitis pigmentosa, corneal ulcer

55. Leber tapetoretinal dystrophy syndrome (retinal aplasia)â??keratoconus, salt-and-pepper or â??bone corpuscleâ? pigmentation, yellowish brown or gray macular lesions

56. Lubarschâ??Pick syndrome (primary amyloidosis)â??amyloid corneal deposits, retinal hemorrhages

57. *Lymphogranuloma venereum disease (Nicolasâ??Favre disease)â??keratitis, pannus, corneal ulcer, keratoconus, tortuosity of retinal vessels, retinal hemorrhages

58. Marfan syndrome (arachnodactyly dystrophia mesodermalis congenita)â??keratoconus, retinitis pigmentosa

59. Meckel syndrome (dysencephalia splanchnocystic syndrome)â??sclerocornea, microcornea, retinal dysplasia

60. Meningococcemiaâ??keratitis, retinal endophlebitis

61. Mikuliczâ??Radeski syndrome (dacryosialoadenopathy)â??keratoconjunctivitis, retinal candlewax spots

62. ML IV (mucolipidosis IV)â??corneal clouding, corneal opacities, retinal atrophy

63. Morbilli (measles-rubeola)â??keratitis, corneal ulcer, pigmentary retinopathy, central retinal artery occlusion

64. Mucormycosis (phycomycosis)â??corneal ulcer, striate keratopathy, retinitis, central retinal artery thrombosis

65. Mycosis fungoides syndrome (malignant cutaneous reticulosis syndrome)â??keratoconjunctivitis, retinal edema, retinal hemorrhage

66. Myotonic dystrophy syndromeâ??corneal epithelial dystrophy, loss of corneal sensitivity, tapetoretinal degeneration, macular red spot, macular degeneration, chorioretinitis

67. *Neurofibromatosis (von Recklinghausen syndrome)â??nodular swelling nerves, hamartoma of retina

68. Norrie disease (atrophia oculi congenita)â??malformation of sensory cells of retina, corneal nebulae

69. Oculodental syndrome (Peters syndrome)â??corneoscleral staphyloma, megalocornea, corneal marginal opacities, macular pigmentation

70. Onchocerciasis syndromeâ??punctate keratitis, sclerosing keratitis, chorioretinitis, retinal degeneration

71. Paget syndrome (osteitis deformans)â??corneal ring opacities, retinal hemorrhages, pigmentary retinopathy, macular changes resembling Kuhntâ??Junius degeneration

72. Phenothiazineâ??epithelial and endothelial pigment, retinal pigmentation

73. Pierre Robin syndrome (micrognathiaâ??glossoptosis)â??retinal disinsertion, megalocornea

74. Plasma lecithin (cholesterol acyltransferase deficiency)â??corneal stromal opacities, retinal hemorrhages

75. Porphyria cutanea tardaâ??keratitis, retinal hemorrhages, cotton-wool spots, macular edema

76. Postvaccinial ocular syndromeâ??corneal vesicles, and marginal ulcers, chorioretinitis, central serous retinopathy, central retinal vein thrombosis

77. Progressive systemic sclerosisâ??marginal corneal ulcers with cicatrization, cotton-wool spots, retinal hemorrhages

78. Radiationâ??corneal ulcer, punctate keratitis, keratoconjuctivitis sicca, retinal hemorrhage, macular degeneration, macular holes with vascularization

79. *Refsum syndrome (phytanic acid oxidase deficiency)â??band keratopathy, retinitis pigmentosa

P.520

80. Relapsing feverâ??interstitial keratitis, retinal hemorrhage

81. Relapsing polychondritisâ??corneal ulcer, retinal detachment, retinal artery thrombosis, keratoconjunctivitis sicca

82. Renal failureâ??cotton-wool spots, band keratopathy

83. Renduâ??Osler syndrome (hereditary hemorrhagic telangiectasis)â??intermittent filamentary keratitis, small retinal angiomas, retinal hemorrhages

84. Retinal disinsertion syndromeâ??bilateral keratoconus, retinal detachment

85. *Retinoblastomaâ??corneal neovascularization, retinal tumor

86. Rothmund syndrome (telangiectasia-pigmentation cataract syndrome)â??corneal lesions, retinal hyperpigmentation

87. Rubella syndrome (Gregg syndrome)â??microcornea, pigmentary retinal changes

88. Sabinâ??Feldman syndromeâ??microcornea, chorioretinitis or atrophic degenerative chorioretinal changes

89. Sanfillipoâ??Good syndrome (mucopolysaccharidosis III)â??slight narrowing of retinal vessels, acid mucopolysaccharide deposits in cornea.

90. *Schaumann syndrome (sarcoidosis syndrome)â??mutton fat keratitic precipitates, keratitis sicca, band-shaped keratitis, inflammatory retinal exudates

91. Scheie syndrome (MPS I-S)â??diffuse to marked corneal clouding, tapetoretinal

degeneration

92. Schwartz syndrome (glaucoma associated with retinal detachment)â??retinal detachment, microcornea

93. Shyâ??Gonatas syndrome (orthostatic hypotension syndrome)â??keratopathy, corneal ulcer, lattice-like white opacities in the area of Bowman membrane, retinal pigmentary degeneration

94. Smallpoxâ??keratitis, congenital corneal clouding, chorioretinitis

95. Stannus cerebellar syndrome (riboflavin deficiency)â??corneal vascularization, superficial diffuse keratitis, corneal opacities, brownish retinal patches

96. Stickler syndrome (hereditary progressive arthroophthalmopathy)â??keratopathy, chorioretinal degeneration, total retinal detachment

97. Sturge-Weber syndrome (neurooculocutaneous angiomatosis)â??retinal detachment, increased corneal diameter with cloudiness

98. *Syphilis (acquired lues)â??keratitis, retinal hemorrhages, retinal proliferation 99. *Temporal arteritis syndrome (Hutchinsonâ??Hortonâ??Magathâ??Brown

syndrome)â??retinal detachments, narrowing of retinal vessels, central retinal artery occlusion, corneal hypesthesia

100. Trisomy 13 (Patau syndrome)â??malformed cornea, retinal dysplasia

101. *Tuberculosisâ??keratitis, pannus, corneal ulcer, retinitis

102. Ullrich syndrome (dyscraniopygophalangy)â??cloudy cornea, corneal ulcers, chorioretinal coloboma

103. Ultraviolet radiationâ??photokeratitis, band keratopathy, herpes simplex keratitis, recurrent corneal erosions, retinal degeneration

104. Vacciniaâ??keratitis, pannus, corneal perforation, central serous retinopathy, pseudoretinitis pigmentosa

105. van Bogaertâ??Schererâ??Epstein (primary hyperlipidemia)â??arcus juvenilis of the cornea, lipid keratopathy, retinopathy with yellowish deposits

106. Vitreous tug syndromeâ??vitreous strands attached to corneal wound or scar, circumscribed retinal edema, posterior retinal detachment

107. von Gierke disease (glycogen storage disease type I)â??corneal clouding, discrete nonelevated, yellow flecks in macula

P.521

108. Waardenburg syndrome (embryonic fixation syndrome)â??microcornea, cornea plana, hypopigmentation and hypoplasia of retina

109. Wagner syndrome (hyaloideoretinal degeneration)â??corneal degeneration, band-shaped keratopathy, hyaloideoretinal degeneration, narrowing of retinal vessels, retinal

detachment, avascular preretinal membranes

110. Waldenström syndrome (macroglobulinemia syndrome)â??crystalline corneal deposits, keratoconjunctivitis sicca, retinal venous thrombosis, retinal microaneurysms, cotton-wool spots

111. Weil disease (leptospirosis)â??keratitis, retinitis

112. Werner syndrome (progeria of adults)â??bullous keratitis, paramacular retinal degeneration 113. Wiskottâ??Aldrich syndrome (sex-linked draining ears, eczematoid dermatitis, bloody

diarrhea)â??corneal ulcers, retinal hemorrhages

114. Yersiniosisâ??corneal ulcer, retinal hemorrhages

115. Zellweger syndrome (cerebrohepatorenal syndrome)â??corneal opacities, narrowing of retinal vessels, retinal holes without detachment, tapetoretinal degeneration

116. Zieve syndrome (hyperlipemia hemolytic anemia-icterus syndrome)â??cloudy cornea, corneal ulcers, retinal lipemia

Arffa RC. Grayson's disease of the cornea, 3rd ed. St. Louis: Mosby-Yearbook, 1991.

Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.

Retinal Lesions Associated with Deafness

1. Alport syndrome (hereditary familial congenital hemorrhagic nephritis)

2. Alström diseaseâ??retinitis pigmentosa

3. Choroideremia, obesity, and congenital deafness

4. Cockayne syndrome (dwarfism with retinal atrophy and deafness)

5. Dialinasâ??Amalric syndrome (deaf-mutism-retinal degeneration syndrome) 6. *Harada syndrome (Vogtâ??Koyanagiâ??Harada syndrome)

7. Hallgren syndrome (retinitis pigmentosaâ??deafnessâ??ataxia syndrome)

8. Hunter syndrome (MPS II)

9. Laurenceâ??Moonâ??Bardetâ??Biedl syndrome (retinitis pigmentosaâ??polydactyly adiposogenital syndrome)

10. Norrie diseaseâ??mental retardation, X-linked retinal malformation, and hearing loss 11. *Refsum syndrome (phytanic acid storage disease)

12. Retinal vessel changes, muscular dystrophy, mental retardation, and hearing loss

13. Rubella (German measles)â??cardiac disorders, cataract, salt-and-pepper pigmentation 14. Sanfilippo syndrome (MPS III, autosomal recessive)

15. *Syphilisâ??acquired or congenital

16. Usher syndrome (hereditary retinitis pigmentosaâ??deafness syndrome)

17. Waardenburg syndrome (embryonic fixation syndrome)

Ayazi S. Choroideremia obesity, and congenital deafness. Am J Ophthalmol