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Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome.

作者信息

Stanescu B, Michiels J, Proesmans W, Van Damme B

出版信息

Birth Defects Orig Artic Ser. 1976;12(3):463-74.

PMID:953201
Abstract

Electroretinographic and electroencephalographic studies were conducted in a 12-year-old boy with nephronophthisis, chronic hepatic fibrosis, mental retardation and tapetoretinal degeneration (Senior-Boichis syndrome). Markedly reduced ERG amplitudes and flat oscillatory potentials were found in the proband. Delayed scotopic implicit time and reduced amplitudes of the beta-wave were found in the mother's ERG. ERG may identify the carrier state of the Senior-Boichio syndrome.

摘要

相似文献

1
Retinal involvement in a case of nephronophthisis associated with liver fibrosis Senior-Boichis syndrome.
Birth Defects Orig Artic Ser. 1976;12(3):463-74.
2
Nephronophthisis and tapetoretinal degeneration associated with liver fibrosis.肾痨与伴肝纤维化的视网膜色素变性
Clin Nephrol. 1975;3(4):160-4.
3
Senior-Loken syndrome (nephronophthisis and tapeto-retinal degeneration): a study of 8 cases from 5 families.Senior-Loken综合征(肾痨和视网膜色素变性):来自5个家庭的8例病例研究
Clin Nephrol. 1976 Jan;5(1):14-9.
4
Juvenile nephronophthisis associated with new skeletal abnormalities, tapetoretinal degeneration and liver fibrosis.青少年肾单位肾痨伴新发骨骼异常、视网膜色素变性和肝纤维化。
Helv Paediatr Acta. 1989 Jun;43(5-6):449-55.
5
[Nephronophthisis, tapeto-retinal degeneration, encephalopathy and vermian agenesis: a new association. Apropos of 3 familial cases].肾痨、视网膜色素变性、脑病和小脑蚓部发育不全:一种新的关联。关于3例家族性病例
Ann Pediatr (Paris). 1989 Feb;36(2):126-31.
6
[Electroretinography in nephronophthisis. Role of the Senior-Loken syndrome].[肾单位肾痨的视网膜电图。Senior-Loken综合征的作用]
Arch Ophtalmol (Paris). 1976 Apr;36(4):313-20.
7
Electroretinography and diagnosis of the Laurence-Moon-Bardet-Biedl syndrome in childhood.儿童期劳伦斯-穆恩-巴德-比德尔综合征的视网膜电图检查与诊断
J Pediatr Ophthalmol. 1977 Sep-Oct;14(5):305-8.
8
[AC and DC electroretinography in degenerative retinal diseases].[退行性视网膜疾病中的交流和直流视网膜电图]
Fortschr Ophthalmol. 1990;87(2):196-200.
9
Electroretinogram in cone dystrophy.圆锥角膜营养不良中的视网膜电图。
Jpn J Ophthalmol. 1991;35(4):453-66.
10
[Familial chronic interstitial nephropathy and retinal dystrophy (Senior-Loken syndrome)].[家族性慢性间质性肾病和视网膜营养不良(Senior-Loken综合征)]
Nouv Presse Med. 1974 Feb 9;3(6):309-12.

引用本文的文献

1
Senior-Løken syndrome with marbelized fundus and unusual skeletal abnormalities. A case report.伴有眼底大理石样改变及特殊骨骼异常的Senior-Løken综合征。病例报告。
Graefes Arch Clin Exp Ophthalmol. 1993 Apr;231(4):242-6. doi: 10.1007/BF00918849.
2
Nephronophthisis.肾单位肾痨
Arch Dis Child. 1977 Jun;52(6):518. doi: 10.1136/adc.52.6.518.