Choroidal Coloboma in a Case of Tay-Sachs Disease

被引：3

作者：

Ahmed, Nasreen Raees ^{[1
]}

Tripathy, Koushik ^{[1
]}

Kumar, Vivek ^{[1
]}

Gogia, Varun ^{[1
]}

机构：

[1] All India Inst Med Sci, Dr RP Ctr, Dept Ophthalmol, New Delhi 110029, India

来源：

CASE REPORTS IN OPHTHALMOLOGICAL MEDICINE | 2014年 / 2014卷

关键词：

D O I：

10.1155/2014/760746

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Coloboma as an ocular finding has been documented in various syndromes. Here we have a case of infantile Tay-Sachs disease associated with unilateral choroidal coloboma. To the best of our knowledge, such an association has not been documented in the literature. Whether such an association is a matter of chance or signifies the involvement of ganglioside metabolism in ocular embryogenesis remains to be elucidated.

引用

页数：3

共 18 条

[1] Aicardi syndrome
Aicardi, J
[J]. BRAIN & DEVELOPMENT, 2005, 27 (03) : 164 - 171
[2] ANNEREN G, 1984, CLIN GENET, V26, P178
[3] Ascaso F J, 1993, Eur J Ophthalmol, V3, P101
[4] BLACKBURN CC, 1986, J BIOL CHEM, V261, P2873
[5] Chen Chih-Ping, 2007, Taiwan J Obstet Gynecol, V46, P9
[6] DIAGNOSTIC-CRITERIA FOR WALKER-WARBURG SYNDROME
DOBYNS, WB
PAGON, RA
ARMSTRONG, D
CURRY, CJR
GREENBERG, F
GRIX, A
HOLMES, LB
LAXOVA, R
MICHELS, VV
ROBINOW, M
ZIMMERMAN, RL
[J]. AMERICAN JOURNAL OF MEDICAL GENETICS, 1989, 32 (02): : 195 - 210
[7] DEVELOPMENTAL PATTERNS OF GANGLIOSIDES AND OF PHOSPHOLIPIDS IN CHICK RETINA AND BRAIN
DREYFUS, H
URBAN, PF
EDELHARTH, S
MANDEL, P
[J]. JOURNAL OF NEUROCHEMISTRY, 1975, 25 (03) : 245 - &
[8] Renal coloboma syndrome
Dureau, P
Attie-Bitach, T
Salomon, R
Bettembourg, O
Amiel, J
Uteza, Y
Dufier, JL
[J]. OPHTHALMOLOGY, 2001, 108 (10) : 1912 - 1916
[9] GOLTZ RW, 1992, ARCH DERMATOL, V128, P1108
[10] Ocular coloboma: a reassessment in the age of molecular neuroscience
Gregory-Evans, CY
Williams, MJ
Halford, S
Gregory-Evans, K
[J]. JOURNAL OF MEDICAL GENETICS, 2004, 41 (12) : 881 - 891

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