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视网膜色素上皮的家族性聚集性色素沉着。

Familial grouped pigmentation of the retinal pigment epithelium.

作者信息

de Jong P T, Delleman J W

机构信息

Department of Opthalmology, Erasmus University Rotterdam, Eye Hospital, The Netherlands.

出版信息

Br J Ophthalmol. 1988 Jun;72(6):439-41. doi: 10.1136/bjo.72.6.439.

DOI:10.1136/bjo.72.6.439
PMID:3390419
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1041478/
Abstract

Grouped pigmentation of the retinal pigment epithelium was found in a father and his son. They had a normal resting potential on the electro-oculogram, but the son had a lower normal light rise. We believe this is the first description of familial grouped pigmentation.

摘要

在一位父亲及其儿子身上发现了视网膜色素上皮的成簇色素沉着。他们的眼电图静息电位正常，但儿子的正常光反应上升较低。我们认为这是家族性成簇色素沉着的首次描述。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7821/1041478/011178fe6547/brjopthal00610-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7821/1041478/d850842b8bf9/brjopthal00610-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7821/1041478/011178fe6547/brjopthal00610-0041-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7821/1041478/d850842b8bf9/brjopthal00610-0041-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/7821/1041478/011178fe6547/brjopthal00610-0041-b.jpg

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Familial grouped pigmentation of the retinal pigment epithelium.视网膜色素上皮的家族性聚集性色素沉着。
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引用本文的文献

1
Congenital focal abnormalities of the retina and retinal pigment epithelium.先天性视网膜和视网膜色素上皮局灶性异常。
Eye (Lond). 2020 Nov;34(11):1973-1988. doi: 10.1038/s41433-020-0902-4. Epub 2020 May 4.
2
An unusual presentation of concurrent congenital grouped pigmentation of the retina with albinotic spots.视网膜先天性成簇色素沉着并发白化斑点的一种罕见表现。
Case Rep Ophthalmol. 2015 Feb 10;6(1):39-43. doi: 10.1159/000375525. eCollection 2015 Jan-Apr.

本文引用的文献

1
New clinical test of retinal function based upon the standing potential of the eye.基于眼静息电位的视网膜功能新临床测试。
Br J Ophthalmol. 1962 Aug;46(8):449-67. doi: 10.1136/bjo.46.8.449.
2
MACULAR COLOBOMA WITH BILATERAL GROUPED PIGMENTATION OF THE RETINA.黄斑缺损伴双侧视网膜色素沉着簇
Br J Ophthalmol. 1945 Mar;29(3):132-6. doi: 10.1136/bjo.29.3.132.
3
[Grouped pigmentation of the retina].[视网膜色素沉着聚集]
Bull Soc Belge Ophtalmol. 1951;99:470-8.
4
Hypertrophy of the retinal pigment epithelium associated with Gardner's syndrome.与加德纳综合征相关的视网膜色素上皮肥大。
Am J Ophthalmol. 1980 Nov;90(5):661-7. doi: 10.1016/s0002-9394(14)75133-5.
5
[Hypertrophies of pigment epithelium (author's transl)].
J Fr Ophtalmol. 1981;4(2):117-21.
6
A syndrome of microcephaly and retinal pigmentary abnormalities without mental retardation in a family with coincidental autosomal dominant hyperreflexia.
Am J Med Genet. 1984 Mar;17(3):585-94. doi: 10.1002/ajmg.1320170306.
7
[Familial manifestations of grouped pigmentation in macular region].[黄斑区色素沉着群的家族性表现]
Ophthalmologica. 1966;152(5):364-8. doi: 10.1159/000304992.
8
Congenital grouped pigmentation of the retina. Histopathologic description and report of a case.先天性视网膜色素沉着群。组织病理学描述及一例报告
Arch Ophthalmol. 1975 Nov;93(11):1153. doi: 10.1001/archopht.1975.01010020861007.
9
Hypertrophy with hyperpigmentation of the retinal pigment epithelium.视网膜色素上皮细胞肥大伴色素沉着。
Arch Ophthalmol. 1975 Nov;93(11):1122-6. doi: 10.1001/archopht.1975.01010020840002.
10
Congenital hypertrophy of the retinal pigment epithelium.
Am J Ophthalmol. 1975 Feb;79(2):177-89. doi: 10.1016/0002-9394(75)90069-0.