?????????????

??????
??? ??
1. ????????·········································1
2. ???????···········································1
3. ?????????·······································1
4. ???????????·································· 1
5. ???????···········································2
6. ????????·········································2
7. ??????????··································· 2
8. ????????·········································2
9. ??????????···································· 2
10. ?????????·······································2
11. ????????·······································2
12. ????????·······································2
13. ????????·······································3
14. ????????·······································4
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,2007,2:47.
???????
??:???????(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))??Duane???????(Duane retraction syndrome,
DRS)????????????,?????1%,????????????????,??????,???????,???????,?????[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]. ????????,2002,20(11):879-880.
2.??,???,???,?. ?????????????????????????????[J]. ??????,2005,41(7):594-
599.
3.??,???,???,?. ??????????????????[J]. ????,2007,25(7):557-558. ????????(congenital microcoria syndrome) Siegrist???(???????????)(Siegrist syndrome)· Reese-Ellsworth???(???????)(Reese-Ellsworth syndrome)·
Oguchi???(??????)
??:Oguchi???(Oguchi syndrome)????????(Congenital night
blindness),??????????????,????????[1],??????????????,???????????,???????????
??,????????,???????,????[2-3]?
????
1.???. ??????[J]. ??????. 1984, 20:364-365.
2.???. ?????????[J]. ??????. 1953, 3: 44-49.
3.???,??. ?????[J]. ??????. 2000, 36(2): 152-153.
Komoto ???(????????)
??:Komoto???(Komoto
syndrome)???????,????????????,??????????????????????????????[1]?
????
1.??,???,??,???,??,???. Kamoto????????[J]. ????????????. 2005,16(5): 294-
295. Norrie???(?????????)(Komoto syndrome)
Dalton?(???)
??:Dalton?(Dalton syndrome)??????????, ???????????,??????????????????????,
????????,??????,????????????
?????
??:?????(Leber Congenital Amaurosis,
LCA)?????????,??????????[1],??????????????????????????????????,???????,?????
?????,?1???
??????????[2],????????????????,????,
????,????,????????[3]?
????
1.???,???,???. Leber????????????????????
[J]. ??????,1990,26(1):26.
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.
?????
??:?????(Choroideremia)???X?????????,???????????????????????????????????????
,?????????????????,????????????????,????????,????????[1]?
????
1.Andonegui NJ, Larrauri AA. Choroideremia: manifestation in affected male
and female carrier[J]. Arch Soc oftalmol, 2000,75: 839-842.
?????????????
??:?????????????(Congential retinal
telangiectaisa)??Coats?,???????,????,????,????,????????????,???????????"???"
,????????????????,??????,?????????????,????????????????????????,??????????,?
????????[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 retinoschisis)???????????(X-linked
retinoschisis)?X????????????(X-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 syndrome)??Duane????Duane???????(Duane retraction
syndrome,
DRS),????????????,?????1%,????????????????,??????,???????,???????,?????[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.