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

2. Congenital contractural arachnodactyly

3. Crouzon syndrome

4. Stickler syndrome

5. Treacher Collins syndrome

6. Tuberous sclerosis

7. Zellweger syndrome

ii.Chromosomal abnormalities

1. Deletions 4p, 4r, 11q, 13q, 18q, 18r, XO

2. Duplications 3q, 4p, 4q, 7q, 9p, 9q, 13q, 22q 3. Ring B syndrome

4. Triploidy

5. Trisomy 8, 9, 13, 17, 18, XXX, XYY

iii.Unknown cause

1. Amniogenic band syndrome (Streeter dysplasia)

2. Cat's-eye syndrome (Schmidâ??Fraccaro syndrome)

3. CHARGE (colomba, heart disease, atresia choanae, retarded growth and retarded growth development or central nervous system anomalies, genital hypoplasia, and ear anomalies, or deafness) syndrome

4. Dyscraniopygophalangea (Ullrich syndrome)

5. Facial-clefting syndromes

6. Frontonasal dysplasia (median cleft face syndrome)

7. Goldenhar syndrome (oculoauriculovertebral syndrome)

8. Hemifacial microsomia syndrome

9. Linear sebaceous nevus syndrome

10. Rubinsteinâ??Taybi syndrome

12. Noncolobomatous microphthalmia

A.X-linked

1. Andersonâ??Warburg syndrome

2. Forsiusâ??Eriksson syndrome (Aland disease)

3. Lowe syndrome (oculocerebrorenal syndrome)

B.Autosomal recessive

1. Cerebrooculofacioskeletal syndrome

2. Conradi syndrome

3. Cross syndrome

4. Diamondâ??Blackfan syndrome

5. Fanconi

6. Obesityâ??cerebralâ??ocular-skeletal anomalies syndrome

C.Autosomal dominant

1. Blatt syndrome

2. Gansslen syndrome

3. Hypomelanosis of Ito syndrome

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4. Leri syndrome

5. Myotonic dystrophy

6. Rieger syndrome

D.Chromosomal abnormalities 1. Duplication 10q

2. Trisomy 21Q syndrome

3. Chromosome deletion Xp22.1

E.Unknown cause

1. Arachnoidal cyst

2. Gorlinâ??Chaudhryâ??Moss syndrome

3. Hallermanâ??Streiff syndrome

4. Hutchinsonâ??Gilford syndrome (progeria)

5. Krause syndrome (encephaloophthalmic)

6. Meyerâ??Schwickerath and Weyers syndrome

7. Pierre Robin syndrome

8. Retinal disinsertion syndrome

9. Sabinâ??Feldman syndrome

10. Weyers syndrome

F.Infectious etiology

1. Congenital rubella (Gregg syndrome)

2. Congenital spherocytic anemia

3. Congenital toxoplasmosis

4. Cytomegalovirus

5. Epsteinâ??Barr syndrome

6. Herpes virus

7. Mumps

8. Varicella

G.Intoxicants

1. Fetal alcohol effects

2. Maternal phenylketonuria fetal effects

13. Idiopathic

14. Nanophthalmos

Eng A, et al. Linear facial skin defects associated with microphthalmia and other malformations, with chromosome deletion Xp22.1. J Am Acad Dermatol 1994;31:680â??682.Bibliographic Links

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

Hofling-Lima AL, et al. Exophiala jeanselmei causing late endophthalmitis after cataract surgery. Am J Ophthalmol 1999;128,4:512â??514.

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Li Suhui, et al. Unilateral blastomyces dermatitidis endophthalmitis and orbital cellulitis. Ophthalmology 1998;105:1466â??1470.Bibliographic Links

Okada AA, et al. Endogenous bacterial endophthalmitis: report of a ten-year retrospective study. Ophthalmology 1994;101:832â??888.Bibliographic Links

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

Weishaar PD, et al. Endogenous aspergillus endophthalmitis. Ophthalmology 1998;105:57â??68.Bibliographic Links

Intraocular Cartilage

1. Angiomatosis of the retina

2. Chromosome deletion

3. Chronic inflammation

4. Facial nevus of Jadassohn (linear sebaceous nevus syndrome)

5. Incidental findings in microphthalmic eye, microphthalmos with cyst, microphthalmic eye from a cyclopic orbit, in eyes with coloboma of the choroid and retina or ciliary body

6. Incontinentia pigmenti (Blochâ??Sulzberger disease)

7. Persistent hyperplastic primary vitreous

8. Retinal dysplasia

9. Teratoid medulloepithelioma (dictyomas)

10. Trisomy (13-Patau syndrome) (globe less than 10 mm in diameter)

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

Wilkes SR, et al. Ocular malformation in association with ipsilateral facial nevus of Jadassohn. Am J Ophthalmol 1981;92:344â??352.Bibliographic Links

Intraocular Calcifications

4. Missile passing through orbit carrying orbital fat into the eye

Font RL, et al. Intraocular adipose tissue and persistent hyperplastic primary vitreous. Arch Ophthalmol 1969;82:43â??59.Bibliographic Links

Willis R, et al. Heterotropic adipose tissue and smooth muscle in the optic disc: association with isolated colobomas. Arch Ophthalmol 1972;86:139â??146.Bibliographic Links

Soft Globe (Decreased Intraocular Pressure)

1. *Fistula from intraocular source, including penetrating intraocular trauma or surgery and ruptured wall of the globe

2. *Laser or cryotherapy ciliodestructive procedure

3. Phthisis bulbi

4. Choroidal detachment

5. Injury to the cervical sympathetic nerve

6. Serous detachment of the retina

7. Myotonic dystrophy (Curschmannâ??Steinert syndrome)

8. Systemic disturbances

A.Cardiac edema

B.Diabetic coma

C.Extreme or rapid dehydration because of malnutrition, cholera, or diarrhea

D.Decrease in ocular blood pressure due to hypotension, ligation of the carotid artery, carotid occlusion, or pulseless disease (Takayasu syndrome)

E.Giant cell arteritis (temporal arteritis syndrome)

F.Leprosy (Hansen disease)

G.Parkinson disease (shaking palsy)

H.Postencephalitic syndrome following severe cerebral trauma, barbiturate poisoning, in deep anesthesia, following leukotomy, or on the paralyzed side in cases of cerebral hemiplegia

I.Severe abdominal disturbances, such as intestinal perforation or obstruction

J.Profound anemias

K.Uremic coma

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9. Drugs, including the following: