干燥综合征 - 拉松综合征晚期的眼科检查结果
OPHTHALMIC FINDINGS IN LATE STAGE SJOGREN-LARSSON SYNDROME.
作者信息
Nanda Tavish, Kovach Jaclyn L
机构信息
Harkness Eye Institute, Columbia University Medical Center.
Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Naples, Florida.
出版信息
Retin Cases Brief Rep. 2019;13(3):251-254. doi: 10.1097/ICB.0000000000000583.
Abstract
PURPOSE
To report spectral domain optical coherence tomography and fundus autofluorescence documentation of late stage macular findings associated with Sjogren-Larsson Syndrome in three adult siblings.
METHODS
Three adult siblings with Sjogren-Larsson Syndrome underwent ophthalmic examination and imaging.
RESULTS
Crystalline maculopathy and subretinal deposits, presumably lipofuscin accumulation, with macular atrophy were present in varying degrees in all three adult siblings.
DISCUSSION
In adults with Sjogren-Larsson Syndrome, crystalline retinopathy can progress to macular atrophy and the appearance of lipofuscin accumulation.
摘要
目的
报告三名成年兄弟姐妹中与舍格伦 - 拉松综合征相关的晚期黄斑病变的光谱域光学相干断层扫描和眼底自发荧光记录。
方法
三名患有舍格伦 - 拉松综合征的成年兄弟姐妹接受了眼科检查和成像。
结果
在所有三名成年兄弟姐妹中均不同程度地存在结晶样黄斑病变、视网膜下沉积物（推测为脂褐素积聚）以及黄斑萎缩。
讨论
在患有舍格伦 - 拉松综合征的成年人中，结晶样视网膜病变可进展为黄斑萎缩并出现脂褐素积聚。
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本文引用的文献
1
New functions of Müller cells.Müller 细胞的新功能。
Glia. 2013 May;61(5):651-78. doi: 10.1002/glia.22477. Epub 2013 Feb 26.
2
Patients with Sjögren-Larsson syndrome lack macular pigment.干燥综合征-莱尔综合征患者缺乏黄斑色素。
Ophthalmology. 2010 May;117(5):966-71. doi: 10.1016/j.ophtha.2009.10.019. Epub 2010 Feb 16.
3
Subclinical changes in the juvenile crystalline macular dystrophy in Sjögren-Larsson syndrome detected by optical coherence tomography.通过光学相干断层扫描检测干燥综合征-拉松综合征中青少年结晶性黄斑营养不良的亚临床变化。
Ophthalmology. 2008 May;115(5):870-5. doi: 10.1016/j.ophtha.2007.05.063. Epub 2007 Sep 12.
4
Phenotypic variability among adult siblings with Sjögren-Larsson syndrome.舍格伦-拉松综合征成年兄弟姐妹间的表型变异性。
Arch Neurol. 2006 Feb;63(2):278-80. doi: 10.1001/archneur.63.2.278.
5
Oligophrenia in combination with congenital ichthyosis and spastic disorders; a clinical and genetic study.智力发育迟缓合并先天性鱼鳞病和痉挛性疾病；一项临床与遗传学研究。
Acta Psychiatr Neurol Scand Suppl. 1957;113:1-112.
6
Juvenile macular dystrophy associated with deficient activity of fatty aldehyde dehydrogenase in Sjögren-Larsson syndrome.与干燥综合征 - 拉松综合征中脂肪醛脱氢酶活性缺乏相关的青少年黄斑营养不良。
Am J Ophthalmol. 2000 Dec;130(6):782-9. doi: 10.1016/s0002-9394(00)00576-6.
7
The Müller cell: a functional element of the retina.米勒细胞：视网膜的一个功能元件。
Trends Neurosci. 1996 Aug;19(8):307-12. doi: 10.1016/0166-2236(96)10040-0.
8
Sjögren-Larsson syndrome is caused by mutations in the fatty aldehyde dehydrogenase gene.舍格伦-拉松综合征由脂肪醛脱氢酶基因突变引起。
Nat Genet. 1996 Jan;12(1):52-7. doi: 10.1038/ng0196-52.
9
Studies of the skin in Sjögren-Larsson syndrome by electron microscopy.
Am J Dermatopathol. 1982 Aug;4(4):295-301. doi: 10.1097/00000372-198208000-00002.
10
Lipofuscin and melanin content of the retinal pigment epithelium in a case of Sjögren-Larsson syndrome.干燥综合征-拉松综合征一例中视网膜色素上皮的脂褐素和黑色素含量
Br J Ophthalmol. 1987 Mar;71(3):224-6. doi: 10.1136/bjo.71.3.224.
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