Ординатура / Офтальмология / Английские материалы / Ocular Differential Diagnosis 7th edition_Roy_2002
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Seddon J, Fong D. The association between cigarette smoking and ocular diseases. Surv Ophthalmol 1998;42:535â??547.Bibliographic Links
Lamellar (Stellate, Zonular, Cortical, Coronary) Cataracts
1. Alcohol
2. Aniridia
3. Argon laser
4. Autosomal-dominant congenital cataract
5. Congenital zonular cataract
6. Cortical cataract and congenital ichthyosis
7. Dermochonoral corneal dystrophy
8. Diabetes mellitus (Willis disease)
9. Females
10. Galactokinase deficiency (von Reuss syndrome)
11. Hagbergâ??Santavuori (neuronal ceroidâ??lipofuscinoses)
12. Hypertension
13. Hypoglycemia
14. Hypophosphatasia (phosphoethanolaminuria)
15. Iritis
16. Leiomyoma
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17. Mannosidosis
18. Marfan syndrome (dolichostenomeliaâ??arachnodactylyâ??hyperchondroplasiaâ??dystrophia mesodermalis congenita)
19. Marshall syndrome (atypical ectodermal dysplasia)
20. Myotonic dystrophy syndrome (Curschmannâ??Steinert syndrome)
21. Neurofibromatosis 2 (central neurofibromatosis)
22. Nieden syndrome (telangiectasia cataract syndrome)
23. Nonwhites
24. Obesity (abdominal)
25. Organic nitrate explosives
26. Passow syndrome (status dysraphicus syndrome)
27. Riboflavin deficiency (Stannus cerebellar syndrome)
28. Roy syndrome (cataract associated with smoking)
29. *Sunlight
30. Tetany cataract (hypoparathyroidism)
31. *Ultraviolet-B light
32. Van Bogaertâ??Schererâ??Epstein syndrome (primary hyperlipidemia)
33. Van der Hoeve syndrome (osteogenesis imperfecta)
34. Wagner syndrome (hyaloideoretinal degeneration)
Press, 1998.
Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.
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Posterior Subcapsular Cataract
1. Complicated cataract
A.Anterior segment involvement, such as that because of the following:
1. Acute and chronic corneal ulcer
2. *Iridocyclitis
3. *Chronic anterior uveitis
4. Acute or chronic glaucoma
B.Posterior segment involvement such as that because of the following:
1. *Chronic posterior uveal inflammation
2. Long-standing retinal detachment
3. High myopia
4. Hereditary retinal lesions, including retinitis pigmentosa
5. Persistent hyperplastic primary vitreous
2. Congenital posterior polar lens changes
A.Spurious posterior capsular cataract (Mittendorf dot)
B.Posterior polar cataractâ??persistent fibrovascular sheath of lens with or without secondary cataract
C.Posterior lenticonus
3. Aberfeld syndrome (ocular and facial abnormalities syndrome)
4. Acrodermatitis chronica atrophicans
5. Alcoholism
6. Aniridia
7. Anterior segment ischemia syndrome
8. Aspergillosis
9. Bassenâ??Kornzweig syndrome (familial hypolipoproteinemia)
10. Blochâ??Sulzberger syndrome (incontinentia pigmenti)
11. Buerger disease (thromboangiitis obliterans)
12. Capsular exfoliation syndrome
13. Carotid artery syndrome
14. Chromosome partial deletion (short-arm) syndrome
15. Congenital amaurosis of Leber (Leber congenital amaurosis)
16. Cushing syndrome
17. *Diabetes mellitus (Willis disease)
18. Drugs, including dinitrophenol busulfan (Myleran), triparanol (MER-29), PUVA (psoralen
plus ultraviolet light of A-wave length), allopurinol, indapamide, megestrol acetate, and phenothiazine usage
19. Electrical injury
20. Engelmann syndrome (diaphyseal dysplasia)
21. Fabry disease (glycosphingolipid lipidosis)
22. Familial hypogonadism syndrome
23. Frenkel syndrome (ocular contusion syndrome)
24. Fuchs syndrome
25. Glassblowers (heat) cataract
26. Gyrate atrophy (ornithine ketoacid aminotransferase deficiency)
27. Hagbergâ??Santavuori syndrome (neuronal ceroid-lipofuscinoses)
28. Hair dye
29. Hand-Schüllerâ??Christian syndrome (xanthomatous granuloma syndrome) 30. Harada syndrome (uveitisâ??vitiligoâ??alopeciaâ??poliosis syndrome)
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31. Heerfordt syndrome (uveoparotitis)
32. Hemochromatosis
33. Herpes simplex
34. Hodgkin disease
35. Hypertension
36. Hypoparathyroidism
37. Ionizing radiation, such as that encountered in x-ray, radium, or neutron therapy 38. Jacobsenâ??Brodwall syndrome
39. Kussmaul disease (necrotizing angiitis)
40. Kyrle disease (hyperkeratosis follicularis et parafollicularis in cutem penetrans) 41. Laurenceâ??Moonâ??Bardetâ??Biedl syndrome (retinitis
pigmentosaâ??polydactylyâ??adiposogenital)
42. Leprosy (Hansen disease)
43. Leri syndrome (carpal tunnel syndrome)
44. Leukemia
45. Lightning induced
46. Malaria
47. Meckel syndrome (dysencephalia splanchnocystic syndrome)
48. Myotonic dystrophy (Curschmannâ??Steinert syndrome)
49. Neurodermatitis (lichen simplex chronicus)
50. Neurofibromatosis 1 (von Recklinghausen syndrome)
51. Neurofibromatosis 2 (central neurofibromatosis)
52. Ocular trauma (blunt)
53. Oculootoororenoerythropoietic disease
54. O'Donnellâ??Pappas syndrome (foveal hypoplasia and presenile cataractâ??autosomal dominant)
55. Paget syndrome (osteitis deformans)
56. Pemphigus foliaceus (Cazenave disease)
colloidal silver |
pericyazine |
thiothixene |
diazepam (?) |
perphenazine |
trifluoperazine |
diethazine |
phenylmercuric acetate |
triflupromazine |
ethopropazine |
phenylmercuric nitrate |
trimeprazine |
fluphenazine piperacetazine
6. Cataract (coralliform and aculeiform) usually autosomal dominant; sometimes recessive
Fraunfelder FT, Fraunfelder FW. Drug-induced ocular side effects. Woburn, MA: Butterworth-Heinemann, 2001.
McKusick VA. Mendelian inheritance in man, 12th ed. Baltimore: Johns Hopkins University Press, 1998.
Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.
Oil Droplet in Lens
1. Anterior displacement of lens
2. *Galactosemiaâ??transferase deficiency (von Reuss syndrome)
3. Lenticonus
Bellows JG, Bellows RT. Displacement of the lens. In: Bellows JG, ed. Cataract and abnormalities of the lens. New York: Grune & Stratton, 1975:277.
Beutler E, et al. Galactokinase deficiency as cause of cataract. N Engl J Med 1973;288:1203â??1206.Bibliographic Links
Lenticonus (Conical Lens Surface Protuberance) and Lentiglobus (Globular Lens Surface Protuberance)
1. Anteriorâ??rare and usually bilateral
A.*Alport syndrome (hereditary nephritis)
B.Spina bifida
C.Waardenburg syndrome (embryonic fixation syndrome)
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2. Posteriorâ??more common and often unilateral
A.Associated with persistent hyperplastic primary vitreous
B.Associated with remnants of hyaloid artery
C.Familial posterior lenticonus and microcornea
D.*Lowe syndrome (oculocerebrorenal syndrome)
E.Trauma
Bleik JH, et al. Familial posterior lenticonus and microcornea. Arch Ophthalmol 1992;110:1208.Bibliographic Links
Junk AK, et al. Bilateral anterior lenticonus. Arch Ophthalmol 2000;118:895â??897.Bibliographic Links
Tripathi RC, et al. Pathogenesis of cataracts in patients with Lowe's syndrome. Ophthalmology 1986;93:1046â??1051.Bibliographic Links
Lens Absorption
1. Congenital rubella syndrome (German measles)
2. Hallermannâ??Streiff syndrome (dyscephalic mandibulooculofacial syndrome)
3. Surgical trauma as discission
4. Trauma, blunt or penetrating
Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.
Exfoliation of Lens Capsule
In this condition, superficial layers of the lens capsule split off and float in aqueous as a fine membrane.
1. *Senile exfoliation
2. Toxic exfoliation
A.Atrophic eyes
B.Prolonged iridocyclitis
C.Lodgment of metallic foreign body, such as iron or copper
3. Traumatic
A.Perforating injury
B.Contusions with suspensory ligament separated from a dislocated lens
4. Heat exposure, such as that experienced by glassblowers
Duke-Elder S. System of ophthalmology, Vol XI. St. Louis: CV Mosby, 1969.
Meades K, Versace P. True exfoliation of the lens capsule. Aust N Z J Ophthalmol 1992;20:347â??348.Bibliographic Links
Microphakia or Spherophakia or Microspherophakia (Small Lens or Highly Spheric Lens)
1. Achard syndrome (Marfan syndrome with dysostosis mandibulofacialis)
2. Alport syndrome (hereditary nephritis)
3. Familial anomaly
4. Homocystinuria syndrome
5. Hyperlysinemia
6. Lenticular myopia as recessive inheritance trait
7. Little syndrome (hereditary osteoorcychodysplasia)
8. Lowe syndrome (renal rickets)
9. *Marchesani syndrome (brachymorphy with spherophakia) (Weillâ??Marchesani syndrome) P.401
10. Marfan syndrome (dolichostenomelia-arachnodactyly hyperchondroplasia dystrophica mesodermalis congenita)
11. Peter anomaly (anterior chamber cleavage syndrome)
12. Reticular dystrophy of the retinal pigment epithelium
13. Rubella syndrome (Gregg syndrome)
14. Waardenburg syndrome (embryonic fixation syndrome)
Roy FH. Ocular syndromes and systemic diseases, 3rd ed. Philadelphia: Lippincott Williams & Wilkins, 2002.
Sorsby A. Ophthalmic genetics, 2nd ed. New York: Appleton-Century-Crofts, 1970.
Dislocated Lens
1. Achard syndrome (Marfan with dysostosis)
2. Adenoma of the nonpigmented epithelium of the ciliary body 3. Apert syndrome (sphenoacrocraniosyndactyly)
4. Ascariasis
5. Associated ocular findings A. *Aniridia
B.Coloboma of iris and choroid
C.*Congenital glaucoma
D.Ectopia lentis et pupillae
E.Focal dermal hypoplasia (Goltz syndrome)
F.High myopia
G.Isolated lens dislocation (up)
H.Megalocornea
I.Microcornea
J.Microspherophakia with hernia
K.Pseudoxanthoma
L.Retinitis pigmentosa
6. Autosomal recessive or dominant abnormality without other defects, except usually ectopic pupils
7. Capsular exfoliation syndrome
8. Crouzon disease
9. Cryptophthalmia syndrome (cryptophthalmosâ??syndactyly syndrome)
10. Dwarfism, genetic type
11. Ehlersâ??Danlos syndrome (cutis hyperelastica)
12. Gillumâ??Anderson syndrome (blepharoptosis, myopia, ectopia lentis)
13. Gorlinâ??Goltz syndrome
14. Grönbladâ??Strandberg syndrome (pseudoxanthoma elasticum)
15. Hereditary ectodermal dysplasia syndrome
16. *Homocystinuriaâ??usually downward displacement of lens
17. Hyperlysinemia
18. Kniest syndrome
19. Late-onset localized junctional epidermolysis bullosa and mental retardation 20. Mandibulofacial dysostosis (Franceschetti syndrome)
21. Marchesani syndrome (brachymorphy with spherophakia)(Weillâ??Marchesani syndrome)
22. *Marfan syndrome (dolichostenomeliaâ??arachnodactylyâ??hyperchondroplasia dystrophia mesodermalis congenita)â??usually superior displacement of lens
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23. Molybdenum cofactor deficiency (combined deficiency of sulfite oxidase and xanthine dehydrogenase)
24. Oculodental syndrome (Peters syndrome)
25. Pfaundler syndrome
26. Pierre Robin syndrome
27. Pseudoexfoliation (exfoliation syndrome)
28. Recession of anterior chamber angle
29. Refsum syndrome
30. Retinal disinsertion syndrome
31. Retinoblastoma
32. Rieger syndrome (dysgenesis mesostromalis)
33. Spherophakia (see p. 400)



