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2 1

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15 5

6

congenital anophthalmus [1][2]

1.Ragge NK,Subak Sharpe ID,Collin JR.A practical guide to the management of anophthalmia and microphthalmia[J]. Eye, 2007,21: 1290-1300.

2.Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis,2007,247.

:(congenital cyclopia)[1]1.05/100000() [2]

1.Karantanas AH,Papanikolaou N, Danos A, Antonakopoulus G. Cyclopia and exadactyly: CT and MRI findings[J]. Dentomaxillofac Radiol. 1999,28(6):372-374.

2.Cannistr C, Barbet P, Parisi P, Lannetti G. Cyclopia: a radiological and anatomical craniofacial post mortem study[J]. J maxillofac Surg. 2001,29(3): 150-155.

:(congenital aniridia)[1][2]PAX6[3]

1.Tan JS, Tan KL, Lee JC, et al. Comparison of eye lens dose on neuroimaging protocols between 16- and 64-section multidetector CT: achieving the lowest possible dose. AJNR. 2009,30(2): 373-377.

2.Gupta SK, De Becker I, Tremblay F, et al. Genotype/phenotype correlations in aniridia[J]. Am J Ophthalmol. 1998,126(6): 203.

3.Song SJ, Liu YZ, Cong RC, et al. Mutation analysis of PAX4 gene in a large Chinese family with aniridia[J]. China Med J. 2005,11(8): 302.

:(congenital macula coloboma)[1][2]

1.. [M]. 1998.165-168.

2.Chen MS, Yang CH, Huang JS. Bilateral macular coloboma and pigmented paravenous retinochoriodal atrophy[J]. Br J Ophthalmol. 1992,76(8):250-251.

:(total choroidal vascular atrophy)(progressive choroidal atrophy)(progressive tapetochorordal atrophy), X[1][2][3]

1.Geodbloed J. Mode of inheritance of choroideremia[J]. Ophthalmologica. 1942,104:368.

2.Sorsbby A. Choroideremia: clinical and genetic expects[J]. Br J Ophthalmol, 1962,36:547.

3.Westerlund E. Inheritance of choroideremia[J]. Acta Ophthalmol, 1956,34: 63.

:(congenital attolens oculi-apertor oculi adherence syndrome)[1]

:

1.. . . 1994, 30(2): 157-158.

Duane

:Duane(Duane syndrome)DuaneDuane retraction syndrome, DRS1%[1-2]

1.Engle EC. The genetic basis of complex strabismus[J]. Pediatr Res. 2006, 59:343-348.

2.Blaed PK, Mark AS, Kattah J, et al. MR of oculomotor nerve palsy. AJNR. 1995,16: 1665-1672.

:congenital fibrosis of extraocular muscles syndrome, CFEOM[1-2][3]

1.. 1[J]. 2002,2011879-880.

2.. [J]. 2005,417594-599.

3.. [J]. 2007,257557-558.

congenital microcoria syndrome

SiegristSiegrist syndrome

Reese-EllsworthReese-Ellsworth syndrome

Oguchi

:OguchiOguchi syndromeCongenital night blindness[1][2-3]

1.. [J]. . 1984, 20364-365.

2.. [J]. . 1953, 3 44-49.

3.. [J]. . 2000, 36(2): 152-153.

Komoto

KomotoKomoto syndrome[1]

1.. Kamoto[J]. . 2005,16(5): 294-295.

NorrieKomoto syndrome

Dalton

DaltonDalton syndrome, ,

Leber Congenital Amaurosis, LCA[1]1

[2]

[3]

1.. Leber

[J]. 1990,26126.

2.Foxman SG, Heckenlively JR, Bateman BJ, et al. Classification of congenital and

early-onset retinitis pigmentosa[J]. Arch Ophthalmol, 1985, 103: 1502.

3.. Leber[J]. .

2005, 13(3): 141-144.

ChoroideremiaX[1]

1.Andonegui NJ, Larrauri AA. Choroideremia: manifestation in affected male and female carrier[J]. Arch Soc oftalmol, 2000,75: 839-842.

:Congential retinal telangiectaisaCoats[1]

1.. Coats[J]. . 1998, 5(12): 976-977.

-

:-Isolated anophthalmia - microphthalmia[1-2]

1.Bardakjian T, Weiss A, Schneider AS. Anophthalmia/Microphthalmia Overview[J]. Gene Review. 2004, 29

2.. [J]. . 2010, 19(8): 1259-1260.

:Isolated pure microphthalmia[1]

1.. [J]. . 2007, 16(1): 6-8.

/X

:Juvenile retinoschisisX-linked retinoschisisXX-linked Juvenile retinoschisis, XLRS[1][2-3]50%[3]

1.. [J]. . 2010, 28(6): 524-526.

2.George ND, Yates JR, Moore AT. X linked retinoschisis[J]. Br J Ophthalmol. 1995, 79: 697-702.

3.George ND, Yates JR, Moore AT. Clinical features in affected males with X-linked retinoschisis[J]. Arch Ophthalmol. 1996, 114: 274-280.

:Retraction syndromeDuaneDuaneDuane retraction syndrome, DRS1%[1-2]

1.Engle EC. The genetic basis of complex strabismus[J]. Pediatr Res. 2006, 59:343-348.

2.Blaed PK, Mark AS, Kattah J, et al. MR of oculomotor nerve palsy. AJNR. 1995,16: 1665-1672.

-

:Septo-optic dysplasia, SOD-[1]

1.Stangel M, Vogeley KT, Jandeck C, et al. Septooptische dysplasia(de-Morsier syndrome)[J]. Nervenarzt. 1998, 69: 352.

:Stargardt disease[1]0.1[2],"",

1.. [M]. . 2005: 786-787.

2.. Stargardt[J]. . 2011, 11(2): 378-379.

:(Orbital Tuberculosis)[1]

1.. 1[J]. . 2003, 25(2): 106-109.

:Orbital Cysticercosis[1][2]

1.. 1[J]. . 2003, 11(6): 553.

2.. 1[J]. . 2004, 10(1): 68.

:Orbital paragonimiasis[1]

1.. [J]. . 2007 43 224-229.

:Orbital mycosis[1][2]

1.. 1[J]. . 2002, 10(1): 70.

2.. 1[J]. . 2000, 8(5):353.

:(Mycotic Canaliculitis)[1][2]

1.. [M]. . 1983: 298-317.

2.. [M]. . 1996, 16(3): 169-170.

:Orbital Sparganosis[1][2]

1.. [J]. . 2007 43 224-229.

2.. [J]. . 2002, 37(4): 295

:Orbital hydatidosis[1][2]

1.. 1[J]. . 2009, 16(8B): 6.

2.. 13[J]. . 1993, 16(3): 225-226.

:(lachrymal gland inflammatory pseudotumor)S[1]

1.. [J]. . 2000, 18(2): 94-95.

:Orbital inflammatory pseudotumor[1-2][1][2]

1.. [J]. . 2006, 15(6): 396-399.

2.. 1[J]. . 2005, 26(5): 97-98.

:Lacrimal sac malignant granuloma[1]

1.. [J]. . 1995, 13(8): 503.

:(Corneal implantable cyst)[1-2][3]

1.Bloomfield SE, Jakobiec FA, Iwamoto T. Traumatic intrastromal cyst[J]. Ophthalmology. 1980, 87: 951.

2. . [J]. . 1994, 30(3): 236-238.

:(Orbital granuloma)

Benson

:Benson[1]

1.. BensonB[J]. . 1996, 12(2): 136.

:Retinitis PigmentosaRP[1]

1.. X[M]. . 1991, 14(4): 180-184.

:Blepharal Dysembryoma2-3[1]

1.. 1[J]. . 2002105 456.

:6%-9.2%[1]

1.. [M]. . 2004, 24(1): 90-91.

:Choroidal Osteoma[1][2]28%[3][1]

1.. 1[J]. . 2010, 18(5): 452.

2.Barkeh HI, Alias D, Muhava H, et al. Bone in the eye[J]. Am J Ophthalmol. 2003, 135: 254.

3.. [M]. . 2005: 2056-2057.

:(Retinal Astrocystic Hamartoma)[1][2][1]

1.. 1[J].. 2006, 22(4): 273-274.

2.. [J]. . 1994, 10(3): 132.

:(Capsulociliary Neurilemmoma) Schwans [1][2]

1.. [M]. . 1984: 321-322.

2.. [J]. . 2000, 18(7): 447-448.

:(Orbital Meningioma)[1][2]

1.Shields JA. Diagnosis and management of orbital tumors[J]. Philadelphia: Sauder. 1989: 180-188.

2.. [J]. . 2007, 7(4): 1175-1176.

:Retinal Astrocystoma[1][2]I[3]II[4]

1.Jerry A, Shields,MD, Ralph C, Eagle Jr,MD, Carol L, Brian P. Aggressive retinal astrocystomas in 4 patients with tuberous sclerosis complex[J]. . 2006, 18(1): 33-39.

2.Shields JA, Shields CLGlial tumors of the retina and optic discPhilade1phiaW B Saunders Co199242243l.

3.. [M]. . 1997: 334-337.

4.. [J]. . 2006, 42(11): 1032-1033.

:Orbital leiomyoma[1]

1.. [M]. . 1995: 165-167.

25

:(Orbital fibrous histiocytomas)[1][2]3[1]

1.. 1[J]. . 2007, 27(6): 428.

2.. [M]. . 1992, 16(1):50-52.

:Retinoblastoma, RB[1][2][3]

1.. [J]. . 2010, 30(2): 186-187.

2.Poplack DG. Principles and practice of pediatric oncology[J]. Philadelphia: Lippincott-Raven. 1997: 697-715.

3.. [J]. . 2009, 9(1): 139-141.

:(Orbital Chemodectoma)Orbital ParagangliomaOrbital non-chromaffin paraganglioma[1],[2][3]

1.. [J]. . 2002, 105 307-308.

2.Straus C, Molcard S, Visot A, et al. Chemodectoma of the cauda equine[J]. Rev Rhum Engl Ed. 1997, 64(5): 345-347.

3.. [J]. . 2005, 28(4): 55-56.

:(Oncocyte adenoma of lacrimal sac)[1]

1.. 1[J]. . 1993, 29(1): 60-61.

:pleomorphic adenoma of lacrimal gland[1]20-50[2][3]

1.. [J]. . 2004, 4(8): 688-689.

2.. [M]. . 1995, 19: 99.

3.. 19. 2011, 2: 461-462.

Merkel

:Merkel(Merkelcell Carcinoma of eyelids, MCC)[1][2]

1.. Merkel[J]. . 2006, 30(4): 418-420.

2.. Merkel[J]. . 2010,3720 3956-3957.

:Orbital Hemangiopericyte[1]20-50[2]

1.. 1[J]. . 2006, 43: 376.

2.. [J]. . 1989 79 578.

:Liposarcoma of eyes

:Retinoblastoma, RB[1][2][3]

1.. [J]. . 2010, 30(2): 186-187.

2.Poplack DG. Principles and practice of pediatric oncology[J]. Philadelphia: Lippincott-Raven. 1997: 697-715.

3.. [J]. . 2009, 9(1): 139-141.

67

:Acute Retinal Necrosis, ARN[1][2][3]

1.. [M]. . 1993 131-134.

2.. [J]. . 2010, 10(1): 102-104.

3.. [J]. . 1999 154 265-267.

Choroid Ischemia

:Choroid Ischemia[1]

1.. [J]. . 2010, 28(12): 1196-1200.

:Retinal Macroaneurysm60-70[1][2]

1.. 1[J]. . 2011, 11(2): 374-375.

2.[J]. 12. 2010, 30(2): 180-181.

:(Iridosehisis)508070[1]

1.. [J]. . 1992, 10(6): 302-303.

:(Optical Type Mitochondria Myopathy)[1]

1.. [J]. . 1995 1310 633-634.

Mobius

:Mobius--[1][2]

1.. Mobius1[J]. . 2003 14 252-253.

2. , , . Mobius1[J]. . 2006, 39(6): 363.

Fuchs

:Fuchs(Fuchs Endothelial Dystrophy)Cornea Guttata, [1][2][3]

1.Krachmer JHPurcell JJ JrYoung CWet a1A study of sixtyfour families with corneal