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Disc oedema in congenital amaurosis of Leber.

作者信息

Flynn J T, Cullen R F

出版信息

Br J Ophthalmol. 1975 Sep;59(9):497-502. doi: 10.1136/bjo.59.9.497.

DOI:10.1136/bjo.59.9.497
PMID:1203237
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1042662/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/3ad33f6e4ff4/brjopthal00261-0041-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/aee0d625e27c/brjopthal00261-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/00a434e99066/brjopthal00261-0039-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/d06057ce90f4/brjopthal00261-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/ec0d3d8766da/brjopthal00261-0040-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/791657c800fb/brjopthal00261-0040-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/aebad47d2e07/brjopthal00261-0040-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/7f2c442c0534/brjopthal00261-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/77e21ad39d0a/brjopthal00261-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/3ad33f6e4ff4/brjopthal00261-0041-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/aee0d625e27c/brjopthal00261-0039-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/00a434e99066/brjopthal00261-0039-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/d06057ce90f4/brjopthal00261-0040-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/ec0d3d8766da/brjopthal00261-0040-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/791657c800fb/brjopthal00261-0040-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/aebad47d2e07/brjopthal00261-0040-d.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/7f2c442c0534/brjopthal00261-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/77e21ad39d0a/brjopthal00261-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/51a6/1042662/3ad33f6e4ff4/brjopthal00261-0041-c.jpg

相似文献

1
Disc oedema in congenital amaurosis of Leber.莱伯先天性黑矇中的视盘水肿。
Br J Ophthalmol. 1975 Sep;59(9):497-502. doi: 10.1136/bjo.59.9.497.
2
Fluorescein angiography in the diagnosis of optic disc oedema.荧光素血管造影在视盘水肿诊断中的应用
Trans Ophthalmol Soc U K (1962). 1974;94(4):976-84.
3
[Congenital amaurosis of Leber (author's transl)].[先天性莱伯黑矇症(作者译)]
Klin Oczna. 1979 May-Jun;81(5-6):395-6.
4
Neurological abnormalities in congenital amaurosis of Leber. Review of 30 cases.莱伯先天性黑矇的神经学异常。30例病例回顾。
Arch Dis Child. 1977 May;52(5):399-402. doi: 10.1136/adc.52.5.399.
5
Bilateral disc oedema in retinitis pigmentosa--an unusual sign.色素性视网膜炎中的双侧视盘水肿——一种不寻常的体征。
Jpn J Ophthalmol. 1987;31(4):621-6.
6
Leber's congenital amaurosis with marbelized fundus and juvenile nephronophthisis.伴有眼底大理石样改变的莱伯先天性黑矇和青少年肾单位肾痨。
Am J Ophthalmol. 1989 Apr 15;107(4):426-8. doi: 10.1016/0002-9394(89)90670-3.
7
Leber's congenital amaurosis as conceived by Leber.
Ophthalmologica. 1979;179(1):48-51. doi: 10.1159/000308863.
8
Concordance and recessive inheritance of Leber congenital amaurosis.莱伯先天性黑矇的一致性和隐性遗传
Am J Med Genet. 1993 May 15;46(3):275-7. doi: 10.1002/ajmg.1320460307.
9
Retinopathy and papilledema in cyanotic congenital heart disease.青紫型先天性心脏病中的视网膜病变和视乳头水肿。
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Retinal astrocytic hamartoma in a patient with Leber's congenital amaurosis.
BMJ Case Rep. 2015 Mar 3;2015:bcr2014208374. doi: 10.1136/bcr-2014-208374.

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Histopathology and functional correlations in a patient with a mutation in RPE65, the gene for retinol isomerase.RPE65 基因突变患者的组织病理学和功能相关性研究,RPE65 是视黄醇异构酶的基因。
Invest Ophthalmol Vis Sci. 2011 Oct 28;52(11):8381-92. doi: 10.1167/iovs.11-7973.
2
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.
3
A syndrome of congenital retinal dystrophy and saccade palsy--a subset of Leber's amaurosis.

本文引用的文献

1
Retinal Aplasia as a Clinical Entity.视网膜发育不全作为一种临床实体
Br Med J. 1960 Jan 30;1(5169):293-7. doi: 10.1136/bmj.1.5169.293.
2
Congenital amaurosis of Leber.
Am J Ophthalmol. 1966 May;61(5 Pt 1):874-80. doi: 10.1016/0002-9394(66)90928-7.
3
[Histological findings in case of congenital pigmentary retinal degeneration].[先天性色素性视网膜变性病例的组织学发现]
Ophthalmologica. 1951 Aug;122(2):65-75. doi: 10.1159/000301039.
一种先天性视网膜营养不良和扫视麻痹综合征——莱伯氏黑蒙的一个亚型。
Br J Ophthalmol. 1984 Jun;68(6):421-31. doi: 10.1136/bjo.68.6.421.
4
Yellowish flecks in Leber's congenital amaurosis.莱伯先天性黑矇中的淡黄色斑点。
Br J Ophthalmol. 1984 Oct;68(10):727-31. doi: 10.1136/bjo.68.10.727.
5
Cone-rod congenital amaurosis associated with congenital hypertrichosis: an autosomal recessive condition.伴有先天性多毛症的视锥-视杆细胞先天性黑矇:一种常染色体隐性疾病。
J Med Genet. 1989 Aug;26(8):504-10. doi: 10.1136/jmg.26.8.504.
6
Leber's congenital amaurosis--a new syndrome with a cardiomyopathy.莱伯先天性黑蒙——一种伴有心肌病的新综合征。
Br J Ophthalmol. 1989 Apr;73(4):250-4. doi: 10.1136/bjo.73.4.250.
4
Development of the ERG in relation to histological differentiation of the retina in man and animals.
Arch Ophthalmol. 1960 Feb;63:232-42. doi: 10.1001/archopht.1960.00950020234005.
5
ELECTRON MICROSCOPY OF A RETINAL ABIOTROPHY.视网膜营养障碍的电子显微镜检查
Arch Ophthalmol. 1964 May;71:683-90. doi: 10.1001/archopht.1964.00970010699016.
6
[Histological findings in Leber's infantile amaurosis and in different forms of hemeralopia].[莱伯氏婴儿黑蒙及不同形式昼盲的组织学发现]
Ophthalmologica. 1963;145:399-402. doi: 10.1159/000304464.
7
Dysgenesis or abiotrophy? A differentiation with the help of the electro-retinogram (ERG) and electro-oculogram (EOG) in Leber's congenital amaurosis.
Ophthalmologica. 1963;145:144-60. doi: 10.1159/000304422.
8
Congenital amaurosis of retinal origin. Frequent association with neurological disorders.视网膜源性先天性黑蒙。常与神经系统疾病相关。
Arch Neurol. 1966 Mar;14(3):294-301. doi: 10.1001/archneur.1966.00470090066009.
9
Keratoconus in congenital diffuse tapetoretinal degeneration.先天性弥漫性视网膜色素变性中的圆锥角膜。
Ophthalmologica. 1968;155(1):8-15. doi: 10.1159/000305329.
10
Papilledema, optic neuritis, and pseudopapilledema. The use of fluorescein angiography in differential diagnosis.视乳头水肿、视神经炎和假性视乳头水肿。荧光素血管造影在鉴别诊断中的应用。
Trans Am Acad Ophthalmol Otolaryngol. 1969 Sep-Oct;73(5):914-28.