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Sporadic aniridia and Wilms' tumor: visual function evaluation of three cases.

作者信息

Harnois C, Boisjoly H M, Jotterand V

机构信息

Unité de Recherche en Ophthalmologie, Centre Hospitalier de l'Université Laval, Québec, Canada.

出版信息

Graefes Arch Clin Exp Ophthalmol. 1989;227(3):244-7. doi: 10.1007/BF02172757.

DOI:10.1007/BF02172757
PMID:2544487
Abstract

The visual function of three infants with sporadic aniridia associated with Wilms' tumor and a deletion of the short arm of chromosome 11 was evaluated with electrophysiological tests. The patients presented nystagmus and photophobia. The electroretinograms (ERGs) were normal, as in other sporadic cases, but at variance with the familial cases. The latency of the flash visual evoked potentials (FVEPs) became shorter with time but remained longer than in age-matched controls, suggesting a delay in maturation of the nervous system. Poor visual function in our cases did not appear to be the result of gross retinal anomalies, as shown by the normal ERG, nor of an hypoplasia of the optic nerve. Contact lenses that provide an artificial pupil decreased photophobia and nystagmus and are therefore highly recommended to increase patient comfort.

摘要

相似文献

1
Sporadic aniridia and Wilms' tumor: visual function evaluation of three cases.
Graefes Arch Clin Exp Ophthalmol. 1989;227(3):244-7. doi: 10.1007/BF02172757.
2
[The aniridia-Wilms' tumor syndrome: a familial case].[无虹膜-肾母细胞瘤综合征:1例家族性病例]
Bull Soc Ophtalmol Fr. 1987 Nov;87(11):1315-7.
3
Wilms' tumor in seven children with congenital aniridia.7例患有先天性无虹膜症儿童的肾母细胞瘤。
J Pediatr Surg. 1975 Feb;10(1):87-96. doi: 10.1016/s0022-3468(75)80015-7.
4
Aniridia-Wilms' tumor association and 11p interstitial deletion.无虹膜-肾母细胞瘤综合征与11p间质缺失
Eur J Pediatr. 1981 Mar;136(1):91-2. doi: 10.1007/BF00441718.
5
The aniridia-Wilms' tumour association: molecular and genetic analysis of chromosome deletions on the short arm of chromosome 11.无虹膜-威尔姆斯瘤综合征:11号染色体短臂染色体缺失的分子与遗传学分析
Hum Genet. 1989 May;82(2):123-6. doi: 10.1007/BF00284042.
6
Aniridia and Wilms' tumor in a child constitutionally mosaic for 11p-;12q+: a new chromosomal change also present in Wilms' tumor cells of the blastema type.一名患有11p-;12q+体质性嵌合的儿童出现无虹膜和肾母细胞瘤:一种新的染色体改变也存在于胚芽型肾母细胞瘤细胞中。
Hum Pathol. 1986 Oct;17(10):1074-7. doi: 10.1016/s0046-8177(86)80094-6.
7
11p13 deletion, Wilms' tumour, and aniridia: unusual genetic, non-ocular and ocular features of three cases.11p13缺失、肾母细胞瘤和无虹膜:三例患者不寻常的遗传学、非眼部及眼部特征
Br J Ophthalmol. 1990 Sep;74(9):568-70. doi: 10.1136/bjo.74.9.568.
8
[The association of aniridia with tumor of the kidney in children. 4 cases].
Bull Soc Ophtalmol Fr. 1967 Dec;67(12):1099-107.
9
Aniridia: enzyme studies in an 11p--chromosomal deletion.无虹膜症:11p-染色体缺失的酶学研究
Invest Ophthalmol Vis Sci. 1984 May;25(5):612-6.
10
Two anonymous DNA segments distinguish the Wilms' tumor and aniridia loci.两个匿名DNA片段区分了威尔姆斯瘤和无虹膜基因座。
Science. 1988 Aug 12;241(4867):840-2. doi: 10.1126/science.2841760.

引用本文的文献

1
11p13 deletion, Wilms' tumour, and aniridia: unusual genetic, non-ocular and ocular features of three cases.11p13缺失、肾母细胞瘤和无虹膜:三例患者不寻常的遗传学、非眼部及眼部特征
Br J Ophthalmol. 1990 Sep;74(9):568-70. doi: 10.1136/bjo.74.9.568.

本文引用的文献

1
Aniridia with retinal lipid deposits.伴有视网膜脂质沉积的无虹膜症。
Arch Ophthalmol. 1962 Sep;68:331-6. doi: 10.1001/archopht.1962.00960030335006.
2
Dissociated visual development: electrodiagnostic studies in infants who are 'slow to see'.分离性视觉发育:对“视物迟缓”婴儿的电诊断研究
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