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

3. Anemia

G.*Vascular retinopathiesâ??hypertension, edema, hemorrhages, swelling of disc

H.Leukemia

I.The lipidoses

1. Congenital, rare

2. Infantile (Tayâ??Sachs disease)

3. Late infantileâ??(Janskyâ??Bielschowsky syndrome)â??2 to 4 years of age

4. Juvenileâ??(Spielmeyerâ??Vogt syndrome)â??5 to 8 years of age; optic atrophy 5. Adultâ??(Kufs disease)â??15 to 25 years of age; eyes may be normal or show

some pigmented macular changes

J.Gaucher disease (glucocerebroside storage disease)

K.Hereditary dystrophic lipidosis (Fabry disease)

L.Hyperlipemia

1. Diabetesâ??rare, yellowish retinal and choroidal vessels

2. Essential hyperlipemic xanthomatosisâ??rare, yellowish retinal and choroidal vessels

M.Oguchi disease

2. Localized pale areas

A. Medullated nerve fibers (see p. 507)

B.*Retinopathy of prematurity P.506

C.Localized retinal edema

1. Inflammation

2. Trauma

3. Vascular lesions

D.Retinal detachment and schisis (see p. 487)

E.*Retinoblastoma

F.Coats disease (retinal telangiectasia)

G.Coloboma (see p. 450â??451)

H.Normal fundus featuresâ??pale streaks mark site of ciliary nerves

I.Atrophic areasâ??diathermy, light coagulation, or cryosurgery

J.Scattered retinal exudates

1. Preretinalâ??severe posterior uveitis; discrete white spots, often most marked along vessels adjacent to a patch of choroiditis

2. Retinal

a.Purtscher compression syndromeâ??cotton-wool spots

b.Fat emboli

c.Hemangiomatosisâ??yellow exudates

d.*Hypertensive retinopathyâ??cotton-wool and hard exudates

e.Toxemia of pregnancy

f.Hypotensive retinopathy

g.Pulseless disease (Takayasu syndrome)

h.Arterial occlusion

i.Blood lossâ??cotton-wool spots

j.Anemia (all types)

k.Leukemia

l.Purpura

m.Macroglobulinemia (Waldenström syndrome)

n.Hodgkin diseaseâ??soft exudates

o.*Diabetesâ??cotton-wool and hard exudates

p.Hypercholesterolemiaâ??lipid deposits

q.Systemic lupus erythematosus (disseminated lupus erythematosus)

r.Dermatomyositisâ??cotton-wool spots

s.Polyarteritis nodosa (Kussmaul disease)

t.Scleroderma (progressive systemic sclerosis)

u.Vitamin A deficiencyâ??small white spots along course of retinal vessels

v.Retinal capillariosisâ??yellowish white spots in substance of retina

w.Leber congenital retinal aplasiaâ??bilateral blindness, multiple white specks

x.Female carrier of retinitis pigmentosaâ??brilliant silvery reflex with shining yellow spots deep to retinal vessels

3. Dystrophic conditions

A.Gyrate atrophyâ??rare, irregular atrophic areas with visual defects and night blindness

B.Choroidal sclerosisâ??rare, diffuse peripapillary or central choroidal atrophy with larger choroidal vessels prominent

C.Infarction or occlusion of ciliary arteriesâ??rare, embolism (air, fat), injury, atrophic area with prominent choroidal vessels

D.Pseudoinflammatory macular dystrophyâ??rare, fourth to sixth decades, central edema, hemorrhage and exudate, bilateral and symmetric

P.507

E.Helicoid peripapillary chorioretinal atrophyâ??rare, congenital and adult forms, star-shaped atrophic areas radiating from disc

F.Retinitis punctata albescensâ??rare, onset in second and third decades, multiple discrete whitish dots which may appear crystalline, night blindness and field defects in progressive type

G.Fundus flavimaculatusâ??rare, onset in second and third decades, yellow flecks deep in the retina

H.Geographic choroiditisâ??rare, map-like pigmentary disturbance at posterior pole or more widespread over posterior fundus

I.Doyne honeycomb dystrophyâ??rare; middle age and older; drusen at posterior pole, with pigmentary or cystoid macular changes

J.Progressive bifocal chorioretinal atrophyâ??atrophy temporal to disc, extending later; night blindness in late stage

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

Bloome MA, Garcia CA. Manual of retinal and choroidal dystrophies. East Norwalk, CT: Appleton-Century-Crofts, 1981.

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

Medullated Nerve Fibers

In this condition, an opaque white patch is usually adjacent to and may cover the disc; it is localized to one sector of the disc and peripapillary or arcuate with a peripheral, feathered edge.

1. *Isolated finding

2. Autosomal-recessive or -dominant inheritance

3. Associated with the following:

A.Aplasia of macula

B.Coloboma of optic nerve or choroid (see p. 555â??556)

C.Conus of disc

D.Cranial dysostosis (oxycephaly, dolichocephaly, brachycephaly, and craniofacial dysostosis)

E.Hyaloid remnants

F.Macular colobomas (see p. 450)

G.Myopia

H.*Neurofibromatosis

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

Pigmented Fundus Lesions

1. Diffuse pigmentation

A.Negroid fundusâ??accentuation of fundus pigmentation

B.Melanosis bulbiâ??rare, pigmentation of external eye and fundus

C.Nevus of Ota

D.Waardenburg syndrome (embryonic fixation)

2. Single pigmented lesions A. Flat lesions

1. Benign melanomaâ??bluish, gray, or black lesion

2. Pigmented scarâ??patch of dense pigment, usually atrophic area in center P.508

3. Fuchs dark spotâ??dark spot in macular region

4. *Macular degeneration (exudate, age-related)

B.Raised lesions

1. Simple detachment (see p. 487)

a.Macular, such as in central serous retinopathy

b.Associated with uveitis, such as that associated with Vogtâ??Koyanagiâ??Harada syndrome

c.Hemorrhagic macrocyst

2. *Malignant melanomaâ??raised pigmented lesion with secondary detachment, abnormal vessels

3. Choroidal hemorrhageâ??trauma, spontaneous in patients with vascular disease, high myopia

4. *Exudative macular lesionâ??common, old age, subretinal exudate

5. Hemangioma of choroidâ??rare, raised grayish tumor near disc, secondary detachment later

6. *Metastatic tumorâ??flat tumor with little pigment, primary in breast, or lung 7. Chorioretinitis

8. Foreign body

9. Coats disease (retinal telangiectasia)

3. Multiple pigmented lesions

A.Scattered focal lesions

1. *Congenital melanosisâ??cat's-paw patches of pigment in one sector of fundus (may be part of Gardner syndrome)

2. Postinflammatoryâ??flat pigment with areas of atrophy

3. Hypertensive retinopathyâ??hypertensive vascular changes with scattered pigmentation

4. Siegrist streaksâ??rare, chain of pigment spots along sclerosed choroidal vessel 5. Paravenous retinochoroidal atrophyâ??paravenous pigmentation with chorioretinal

atrophy

6. Incontinentia pigmenti (Blochâ??Sulzberger syndrome)

7. Chorioretinal scars from cryosurgery

B.Widely disseminated pigmentary changes 1. Genetic conditions

a.Typical retinitis pigmentosaâ??attenuation of retinal vessels, optic atrophy (myopia, posterior polar cataract, keratoconus)

b.Atypical retinitis pigmentosaâ??rare, little or no pigment, pigment in clumps

c.Retinitis pigmentosa syndromes

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

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

iii.Kearns syndrome (ophthalmoplegic retinal degeneration syndrome)

iv.Laurenceâ??Moonâ??Biedl syndrome (retinitis pigmentosa polydactylyâ??adiposogenital syndrome)

v.Leber congenital retinal aplasia syndrome

P.509

vi.Lignacâ??Fanconi syndrome (cystinosis syndrome)

vii.Myotonic dystrophy syndrome (dystrophia myotonica syndrome)

viii.Pelizaeusâ??Merzbacher syndrome (aplasia axialis extracorticalis congenital)

2. Infectious conditionsâ??secondary retinitis pigmentosa

a.Syphilis (congenital)â??pepper-and-salt pigmentation, interstitial keratitis

b.Syphilitic neuroretinitisâ??rare, retinitis pigmentosa

c.Rubellaâ??cataract, secondary retinitis pigmentosa (nonprogressive)

d.Vacciniaâ??rare, retinitis pigmentosa, history of vaccination

3. Metabolic Disturbances

a.Refsum syndrome (phytanic acid storage disease)

b.Bassenâ??Kornzweig syndrome (familial hypolipoproteinemia)

4. Toxic conditions, such as chloroquine, phenothiazine derivatives; usually central pigmentation; cornea and lens change

4. Ciliary body and choroid

A.Tumors

1. Hemangioma

2. Malignant melanoma

3. *Metastatic carcinoma, such as that from the lungs, breast, testis, kidney, prostate gland, bladder

4. Nevus

5. Neurilemmoma

6. Neurofibroma

B.Detachmentâ??serous or hemorrhagic

C.*Lymphoma and leukemias

D.Peripheral giant cysts

5. Vitreous body

A. Hemorrhage

B. Abscess

6. Staphyloma of sclera

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

Zinn K, Marmor M, eds. The retinal pigment epithelium. Cambridge, MA: Harvard University Press, 1979.

Cholesterol Emboli of Retina (Hollenhorst Plaques)

Bright-yellow plaques are often observed at bifurcation of arterioles, indicative of generalized atherosclerosis, and should signal the ophthalmologist to measure retinal artery pressures and refer the patient for general medical evaluation.

1. Abdominal aortic aneurysms

2. *Aortic stenosis

3. Arteriography showing occlusions in one or more cervical arteries 4. Atrial fibrillation

5. Bleeding duodenal or gastric ulcer 6. *Bruits in one or both carotid arteries

7. *Calcification of internal carotids (Doppler ultrasonography)

8. Congestive heart failure P.510

9. Coronary heart disease with myocardial infarct or angina 10. *Diabetes mellitus

11. New or old strokes or transient attacks of cerebral ischemia

12. Peripheral atherosclerosis obliterans, popliteal or femoral aneurysms

13. Renal artery occlusions

14. *Retinal arterial occlusions

15. Torsion and calcification of aorta (roentgenogram)

16. Vocal cord paralysis (aortic arch aneurysm)

Pfaffenbach DD, Hollenhorst RW. Morbidity and survivorship of patients with embolic cholesterol crystals in the ocular fundus. Am J Ophthalmol 1973;75:66â??72.Bibliographic Links

Wylie EJ, Ehrenfeld WK. Extracranial occlusive cerebrovascular disease: diagnosis and management. Philadelphia: WB Saunders, 1970.

2. Blue rubber bleb nevus syndrome (Bean syndrome)

3. Bonnetâ??Dechauneâ??Blanc syndrome (neuroretinal angiomatosis syndrome)

4. Cavernous retinal hemangiomaâ??intraretinal angiomas

5. *Coats disease (retinal telangiectasia)

6. Gorlin syndrome

7. Racemose angiomaâ??with arteriovenous anomalies of central nervous system (Wyburnâ??Mason syndrome)

8. Retinal telangiectasis (Leber military aneurysms)â??telangiectasia retinae of Reese 9. Sturgeâ??Weber syndrome (meningocutaneous syndrome)

10. *von Hippelâ??Lindau syndrome (retinocerebral angiomatosis retinae)

Crompton JL, Taylor D. Ocular lesion in the blue rubber nevus syndrome. Ophthalmology 1981;65:133â??137.

De Potter P, et al. Combined hamartoma of the retina and retinal pigment epithelium in Gorlin syndrome. Arch Ophthalmol 2000;118:1004â??1006.Bibliographic Links

Geeraets WJ. Ocular syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.

P.512

P.513

Diagnostic tables

Retinal vascular tumors

View Table

Traumatic retinopathies

View Table

P.514

Retinal â??Sea-Fansâ?

These are vasoproliferative lesions with a characteristic fan-shaped appearance, also called a â??parachuteâ? lesion.

1. Aortic arch syndrome (pulseless disease)

2. Carotidâ??cavernous fistula (carotid artery syndrome) 3. *Central and branch retinal vein occlusion (see p. 468) 4. Chronic myelocytic leukemia

5. *Diabetes mellitus

6. Eales disease (periphlebitis)