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伴有固定性散瞳的瓦登伯革氏综合征。

Waardenburg syndrome with a fixed dilated pupil.

作者信息

Laor N, Korczyn A D

出版信息

Br J Ophthalmol. 1978 Jul;62(7):491-4. doi: 10.1136/bjo.62.7.491.

DOI:10.1136/bjo.62.7.491
PMID:678505
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1043263/
Abstract

An unusual case of Waardenburg syndrome associated with a detailed and fixed pupil of the lighter eye is described. Pharmacological investigations were performed to localise the site of the pupillary lesion. A lack of cholinergic reactivity was demonstrated, possibly due to congenital agenesis of the sphincter pupillae. Sympathetic activity was not impaired. Spiral ganglion agenesis and midline congenital anomalies are common features in Waardenburg syndrome. These lesions as well as the fixed dilated pupil might be due to an embryonal inductive failure.

摘要

本文描述了一例罕见的瓦登伯革氏综合征病例，该病例伴有浅色眼睛的瞳孔详细且固定。进行了药理学研究以确定瞳孔病变的部位。结果显示胆碱能反应性缺乏，可能是由于瞳孔括约肌先天性发育不全所致。交感神经活动未受损。螺旋神经节发育不全和中线先天性异常是瓦登伯革氏综合征的常见特征。这些病变以及固定性瞳孔散大可能是由于胚胎诱导失败所致。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c63c/1043263/2949ccb534d1/brjopthal00223-0068-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c63c/1043263/1622fa31dc2b/brjopthal00223-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c63c/1043263/f4b540ae2579/brjopthal00223-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c63c/1043263/2949ccb534d1/brjopthal00223-0068-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c63c/1043263/1622fa31dc2b/brjopthal00223-0067-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c63c/1043263/f4b540ae2579/brjopthal00223-0067-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c63c/1043263/2949ccb534d1/brjopthal00223-0068-a.jpg

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1
Waardenburg syndrome with a fixed dilated pupil.伴有固定性散瞳的瓦登伯革氏综合征。
Br J Ophthalmol. 1978 Jul;62(7):491-4. doi: 10.1136/bjo.62.7.491.
2
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When the darker eye has the smaller pupil.当较深色的眼睛瞳孔较小时。
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Waardenburg's syndrome associated with total aganglionosis.Waardenburg综合征合并完全性无神经节症。
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The Waardenburg syndrome in deaf children in southern Africa.非洲南部聋哑儿童中的瓦登伯革氏综合征。
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Congenital clasped thumb combined with Waardenburg syndrome in three generations of one family: an undescribed congenital anomalies complex.一个家族三代人中先天性拇指内收合并瓦登伯革综合征：一种未被描述的先天性异常综合征。
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引用本文的文献

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2
Type-specific photoreceptor loss in pigeons after disruption of parasympathetic control of choroidal blood flow by the medial subdivision of the nucleus of Edinger-Westphal.艾丁格-韦斯特法尔核内侧亚核破坏脉络膜血流的副交感神经控制后鸽子特定类型光感受器的丧失
Vis Neurosci. 2016 Jan;33:E008. doi: 10.1017/S0952523816000043.
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Unilateral congenital mydriasis.

本文引用的文献

1
A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness.一种新的综合征，其合并了眼睑、眉毛和鼻根的发育异常，虹膜和头部毛发的色素沉着缺陷以及先天性耳聋。
Am J Hum Genet. 1951 Sep;3(3):195-253.
2
Deafness as part of an hereditary syndrome.作为遗传性综合征一部分的耳聋。
J Laryngol Otol. 1959 Jun;73:355-82. doi: 10.1017/s0022215100055420.
3
Waardenburg's syndrome. A syndrome of heterochromia of the irides, lateral displacement of the medial canthi and lacrimal puncta, congenital deafness, and other characteristic associated defects.
单侧先天性瞳孔散大。
Br J Ophthalmol. 1994 May;78(5):420. doi: 10.1136/bjo.78.5.420.
瓦登伯革氏综合征。一种具有虹膜异色、内眦和泪点向外移位、先天性耳聋以及其他相关特征性缺陷的综合征。
J Pediatr. 1960 Nov;57:649-69. doi: 10.1016/s0022-3476(60)80159-x.
4
Mydriatic effect of four drugs determined with pupillograph.
Arch Ophthalmol. 1967 Jun;77(6):740-6. doi: 10.1001/archopht.1967.00980020742005.
5
Waardenburg's syndrome with fundus and other anomalies.
Arch Ophthalmol. 1966 Dec;76(6):797-810. doi: 10.1001/archopht.1966.03850010799005.
6
Waadenburg's syndrome.
Practitioner. 1973 Dec;211(266):785-9.
7
Sympathetic pupillary tone in old age.老年人的交感神经瞳孔张力。
Arch Ophthalmol. 1976 Nov;94(11):1905-6. doi: 10.1001/archopht.1976.03910040615006.
8
Sympathetic pupillary activity in infants.
Pediatrics. 1977 Feb;59(2):195-8.