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

A.Cretinism (hypothyroidism)

B.Cushing syndrome (adrenocortical syndrome)

C.Diabetes mellitus

D.DIDMOAD (diabetes mellitus and insipidus with optic atrophy and deafness) syndrome; Wolfram syndrome, Marquardtâ??Loriaux syndrome)

E.Fröhlich syndrome (dystrophia adiposogenitalis)

F.Hyperparathyroidism

G.Hypophosphatasia (phosphoethanolaminuria)

H.Juvenile diabetes mellitus (Mauriac syndrome)

I.Pituitary gigantism syndrome (Launois syndrome)

J.Simmonds syndrome (hypopituitarism syndrome)

K.Retinohypophysis syndrome (Lijo Paviaâ??Lis syndrome)

L.Zollingerâ??Ellison syndrome (polyglandular adenomatosis syndrome)

6. Granulomatoses

A.Sarcoidosis

B.Tuberculosis

C.Wegener syndrome (Wegener granulomatosis)

7. Infectious

A.African eye-worm disease (loiasis)

B.Anthrax

C.Congenital cytomegalic inclusion disease

D.Congenital rubella syndrome (Gregg syndrome)

E.Cysticercosis

F.Deerfly fever (tularemia)

G.Encephalitis

H.Encephalomeningitis

I.Echinococcosis (hydatid cyst)

J.Lyme disease (borreliosis, relapsing fever)

K.Malaria

L.Meningitis

M.Measles (morbilli)

N.von Mikuliczâ??Radecki syndrome (dacryosialoadenopathy)

O.Mumps (epidemic parotitis)

P.Mycoplasma pneumoniae

Q.Onchocerciasis syndrome (river blindness)

R.Rocky Mountain spotted fever

S.Syphilis (congenital or acquired)

T.Toxoplasmosis

U.Yellow fever

8. Inherited

A.Congenital optic atrophy (autosomal dominant or recessive)

B.Jensen syndrome (opticoacoustic nerve atrophy with dementia; X-linked)

C.Juvenile optic atrophy (autosomal dominant)

D.Metaphyseal dysplasia, anetoderma and optic atrophy (autosomal recessive)

E.Myotonic dystrophy

F.Optic atrophy, cataract and neurologic disorder (dominant)

G.Optic atrophy, non-Leber type, early onset (X-linked) P.567

H.Optic atrophy, polyneuropathy, and deafness (X-linked)

I.Optic atrophy, spastic paraplegia syndrome (X-linked)

J.Optic atrophy, spastic paraplegia, dementia (autosomal dominant)

K.Optic atrophy, nerve deafness, and distal neurogenic amyotrophy (recessive)

L.Optic atrophy with demyelinating of central nervous system (autosomal dominant)

M.Optic atrophy hypoplasia, familial, bilateral (autosomal dominant)

9. Inherited metabolic disorders

A.Leukodystrophies

1. Adrenoleukodystrophy (ALD)

2. Canavan disease (spongy degeneration of the nervous system) 3. Cockayne syndrome

4. Homocystinuria syndrome

5. Krabbe disease

6. Maple syrup urine disease

7. Menkes disease (kinky-hair syndrome)

B.Peroxisome abnormalities 1. Defective biogenesis:

a.Infantile Refsum syndrome (heredopathia atactica polyneuritiformis)

b.Neonatal ALD (adrenal cortical atrophy, patchy brain demyelination)

c.Zellweger syndrome (cerebrohepatorenal syndrome)

2. Refsum syndrome (heredopathia atactica polyneuritiformis

3. Rhizomeric chondrodysplasia punctata

4. Single enzyme deficiency

a.Primary hyperoxaluria type I

b.X-linked ALD C. Storage disorders

1. Lipoidoses

a.Generalized gangliosidosis

i.Gangliosidosis GM2, type

ii.Generalized gangliosidosis GM type

iii.Juvenile gangliosidosis GM type

b.Sphingolipidoses (arylsulfatase A deficiency syndrome

i.Arylsulfatase A deficiency syndrome (metachromatic leukodystrophy)

a.Late infant form: Greenfield disease

b.Adult form: Bogaertâ??Nijssenâ??Peiffer syndrome

c.Austin disease (multiple sulfatase deficiency

d.Fabry disease (angiokeratoma corporis diffusum) e. Krabbe disease (globoid cell leukodystrophy)

f.Niemannâ??Pick syndrome (essential lipoid histiocytosis)

g.Tayâ??Sachs syndrome (hexosaminidase deficiency)

2. Glucose-phosphate dehydrogenase deficiency (von Gierke disease) 3. Mucolipidoses IV (ML IV)

4. Mucopolysaccharidoses (MPS) or lysosomal storage diseases

a.MPS I-H (Hurler syndrome; chondroosteodystrophy or lipochondrodystrophy)

b.MPS I-S (Scheie syndrome)

P.568

c.MPS II (Hunter syndrome)

d.MPS III (Sanfilippo syndrome)

e.MPS IV (Morquio syndrome)

f.MPS VI (Maroteauxâ??Lamy syndrome)

5. Neural ceroid lipofuscinosis

a.Infantile type: Haltiaâ??Santavuori disease

b.Late infantile type: Janskyâ??Bielschowsky disease (internuclear ophthalmoplegia)

c.Juvenile type: Batten disease (Spielmeyerâ??Vogtâ??Sjögren syndrome; cerebroretinal degeneration)

6. Other disorders involving lipids

a.Bassenâ??Kornzweig syndrome (familial hypolipoproteinemia)

b.Refsum syndrome (heredopathia atactica polyneuritiformis)

10. Local

A.Aphakic cystoid macula edema (ACME; Irvineâ??Gass syndrome)

B.Bird-shot chorioretinopathy

C.Coats disease

D.Drusen of optic nerve

E.Glaucoma

F.Vascular occlusion

11. Mental and psychomotor deficiency, retardation

A.Drummond syndrome (idiopathic hypercalcemia)

B.Familial dysautonomia (Rileyâ??Day syndrome)

C.Hallervordenâ??Spatz syndrome

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

E.Kloepfer disease

F.Rubinsteinâ??Taybi syndrome

12. Miscellaneous

A.Albinism

B.Anemia

C.Arachnoidal adhesion (e.g., caused by tabes)

D.Blochâ??Sulzberger disease (incontinentia pigmenti)

E.Bobble-head doll syndrome (massive dilatation of third ventricle)

F.Bonnetâ??Dechaumeâ??Blanc syndrome (neuroretinoangiomatosis)

G.Brownâ??Sequard syndrome

H.Cerebellar ataxia (Louisâ??Bar syndrome)

I.Cerebral palsy

J.Cystic fibrosis syndrome

K.Fosterâ??Kennedy syndrome (basalâ??frontal syndrome)

L.Histiocytosis X eosinophil granuloma (Handâ??Schullerâ??Christian syndrome)

M.Incipient prechiasmal optic nerve compression syndrome

N.Laurenceâ??Moonâ??Bardetâ??Biedl syndrome (retinitis pigmentosaâ??polydactylyâ??adiposogenital syndrome)

O.Leber syndrome

P.Oculodental syndrome (Peter syndrome)

Q.Optic cochleodental degeneration syndrome

R.Peliazeusâ??Merzbacher disease (aplasia axialis extracorticalis congenita)

S.Posthypoxic syndrome

T.Pseudotumor cerebri

P.569

U.Rieger syndrome

V.Russell syndrome

W. Status dysraphicus syndrome (Passow syndrome)

X.Sphenomaxillary fossa syndrome (pterygopalatine fossa syndrome)

Y.Wagner disease (hereditary vitreoretinal degeneration)

13. Nutritional deficiency

A.Avitaminosis B (Wernicke syndrome, beriberi)

B.Avitaminosis B (pellagra)

C.Garland syndrome (central nervous system deficiency)

D.(?) Infantile neuroaxonal dystrophy (possible vitamin E deficiency, Seitelberger disease II)

E.Kwashiorkor syndrome (hypoproteinemia syndrome)

F.(?) Oculoorogenital syndrome (avitaminosis B with possible avitaminosis A)

14. Orbital

A.Hutchinsonâ??Pepper syndrome (metastatic infraorbital neuroblastoma)

B.Rollet syndrome (orbital apex syndrome)

C.Superior orbital fissure syndrome (Rochonâ??Duvigneaud syndrome)

15. Rheumatoid

A.von Bechterewâ??Stumpelld syndrome (ankylosing spondylitis)

B.Behçet disease (oculobuccogenital syndrome)

C.Polymyalgia rheumatica

D.SLE

16. Skeletal disorders

A.Achondroplasia

B.Albersâ??Schonberg syndrome (osteopetrosis)

C.Anencephaly

D.Apert syndrome (acrocephalosyndactylism syndrome)

E.Brachmannâ??de Lange syndrome

F.Camuratiâ??Engelmann syndrome (progressive diaphyseal dysplasia)

G.Chondrodystrophia calcificans congenita (Conradi syndrome)

H.Cloverleaf skull syndrome (Kleeblattschädel deformity)

I.Craniometaphyseal dysplasia (Pyle syndrome)

J.Craniostenosis 1. Oxycephaly 2. Plagiocephaly

3. Scaphocephaly

4. Trigonocephaly

K.Crouzon syndrome (craniofacial dysotosis)

L.Enchondromatosis syndrome (Ollier syndrome)

M.Generalized gangliosidosis GM type

N.Greig syndrome (hypertelorism ocularis)

O.Hallermannâ??Streiffâ??François syndrome (oculomandibulofacial dyscephaly)

P.Hutchinsonâ??Gilford progeria syndrome (progeria)

Q.Marchesani syndrome

R.McCuneâ??Albright syndrome (fibrosus dysplasia)

S.Metaphyseal dysplasia, anetoderma, and optic atrophy

T.Microcephaly

U.Osteogenesis imperfecta (van der Hoeve syndrome)

V.Paget syndrome (osteitis deformans)

P.570

W. Primary hyperoxaluria type (osteodystrophy hydrocephalus)

X. Zellweger syndrome (cerebrohepatorenal syndrome)

17. Trauma

A.Direct and indirect optic nerve trauma

B.Electrical injury

C.Mechanical injury/surgical trauma (orbital floor fracture, malar fractures, Krönlein lateral orbitotomy)

D.Ocular contusion

E.Optic-nerve evulsion

F.Radiation

18. Tumors

A.Craniopharyngiomas

B.Ectopic pinealomas

C.Gliomas

D.Hemangiomas

E.Meningiomas

F.Nasopharyngeal carcinomas

G.Neuroblastomas

H.Pituitary adenomas

I.Pseudoâ??Foster Kennedy syndrome

J.Pseudoâ??pseudoâ??Foster Kennedy syndrome

K.von Recklinghausen syndrome (neurofibromatosis)

L.Tumors extending into fourth ventricle and cerebellum causing papilledema

19. Vascular

A.Aneurysm of internal carotid artery (foramen lacerum syndrome)

B.Arteriosclerosis

C.Cavernosus sinus thrombosis (Foix syndrome)

D.Giant cell (temporal arteritis)

E.Hollenhorst syndrome (chorioretinal infarction syndrome)

F.Kussmaul disease (necrotizing angiitis)

G.Occlusion of the carotid artery

H.Sickle cell disease (Herrick syndrome)

I.Takayasu syndrome (aortic arch syndrome)

Fraunfelder FT, Fraunfelder FW. Drug-induced ocular side effects and drug interactions. Woburn, MA: Butterworth-Heinemann, 2001.

Gamez J, et al. Bilateral optic nerve atrophy in myotonic dystrophy. Am J Ophthalmol 2001;131:398â??400.Bibliographic Links

Girkin CA, et al. Radiation optic neuropathy after stereotactic radiosurgery. Ophthalmology 1997;104:1634â??1643.Bibliographic Links

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

Swartz N, Savino PJ. Is all nondefinable optic atrophy Leber's hereditary optic neuropathy? Surv Ophthalmol 1994;39:146â??150.

Optic-Nerve Atrophy and Deafness

1. Adult form of arylsulfatase A deficiency (Bogaertâ??Nijssenâ??Peiffer syndrome; opticocochleodental degeneration)

2. Camuatiâ??Engelmann syndrome (progressive diaphyseal dysplasia)

3. HMSN I (Charcotâ??Marieâ??Tooth syndrome)

4. Congenital rubella syndrome (German measles, Gregg syndrome) P.571

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

6. Craniometaphyseal dysplasia (Pyle syndrome)

7. DIDMOAD syndrome (optic atrophy, sensorineural deafness, diabetes mellitus and diabetes insipidus)

8. Dominant inheritanceâ??congenital deafness and progressive optic nerve atrophy 9. Friedreich ataxia (optic atrophy, ataxia, and progressive hearing loss)

10. Generalized gangliosidosis GM type

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

12. Juvenile diabetes mellitus

13. Krabbe syndrome (infantile globoid [II] cell leukodystrophy)

14. ML IV

15. MPS I-H (Hurler syndrome)

16. MPS II (Hunter syndrome)

17. MPS IV (Morquio syndrome)

18. (?) MPS (Maroteauxâ??Lamy syndrome)

19. (?) Niemannâ??Pick syndrome (essential lipoid histiocytosis)

20. Osteogenesis imperfecta

21. Recessive: nerve deafness, optic atrophy, and distal neurogenic amyotrophy 22. Refsum syndrome (phytanic acid oxidase deficiency)

23. Rosenbergâ??Chutorian syndrome

24. Sylvester disease

25. Treft syndrome

Emery JM, et al. Krabbe's disease. Am J Ophthalmol 1972;74:400â??406.Bibliographic Links

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

Shields JA, et al. Pigmented adenoma of the optic nerve head simulating a melanocytoma. Ophthalmology 1992;99:1705â??1709.Bibliographic Links

Syndromes and Diseases Associated with Optic Atrophy

1. Achondroplasia

2. Acquired lues (syphilis)

3. African eye worm disease (loiasis)

4. Albersâ??Schonberg syndrome (osteopetrosis)

5. Albinism

6. Albright syndrome (fibrous dysplasia)

7. Anemia

8. Anencephaly

9. Aneurysm of internal carotid artery syndrome (foramen lacerum syndrome) 10. Anthrax

11. Apert syndrome (acrocephalosyndactylism syndrome)

12. Arachnoidal adhesion, including tabes

13. Arteriosclerosis

14. Arylsulfatase A deficiency syndrome (metachromatic leukodystrophy)

15. Avitaminosis B2 (pellagra)

16. Bassenâ??Kornzweig syndrome (familial hypolipoproteinemia)

17. Battenâ??Mayou syndrome (cerebroretinal degeneration)

18. Behçet syndrome (oculobuccogenital syndrome)

19. Behr syndrome (optic atrophy-ataxia)

20. Bielschowskyâ??Jansky disease (internuclear ophthalmoplegia) P.572

21. Blochâ??Sulzberger disease (incontinentia pigmenti)

22. Bobble-head doll syndrome

23. Bonnetâ??Dechaumeâ??Blanc syndrome (neuroretinoangiomatosis)

24. Brownâ??Marie syndrome (hereditary ataxia syndrome) 25. Brownâ??Séquard syndrome (lesion of spinal cord) 26. Carbon monoxide

27. Central nervous system deficiencyâ??bitemporal pallor because of deficient diet (Garland syndrome)

28. Cerebral palsy

29. Cerebellar ataxia

30. Charcotâ??Marieâ??Tooth syndrome (progressive neuritic muscular syndrome)

31. Chondrodystrophia calcificans congenita (Conradi syndrome)

32. Chromosome deletion (long-arm) syndrome (de Grouchy syndrome) 33. Coats disease (retinal telangiectasia)

34. Cockayne syndrome (dwarfism with retinal atrophy and deafness) 35. Congenital cytomegalic inclusion disease

36. Congenital optic atrophyâ??autosomal dominant or recessive

37. Congenital syphilis

38. Craniometaphyseal dysplasia (Pyle syndrome)

39. Craniostenosis (including oxycephaly, scaphocephaly, trigonocephaly, and plagiocephaly)

40. Cretinism (hypothyroidism)

41. Cri-du-chat syndrome (cat-cry syndrome) 42. Crouzon syndrome (craniofacial dysostosis)

43. Cushing syndrome (adrenocortical syndrome)

44. Cystic fibrosis syndrome (fibrocystic disease of pancreas)

45. Cysticercosis

46. Dawson disease (subacute sclerosing panencephalitis)

47. Deerfly fever (tularemia)

48. de Lange syndrome (congenital muscular hypertrophy-cerebral syndrome) 49. Devic syndrome (optical myelitis)

50. Diabetes mellitus

51. Didmoadâ??Wolfram syndrome (diabetes mellitus and insipidus with optic atrophy and deafness)â??autosomal recessive