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黄斑黄斑点状病变:同胞中的多形性视网膜改变。

Fundus flavimaculatus: polymorphic retinal change in siblings.

作者信息

Isashiki Y, Ohba N

出版信息

Br J Ophthalmol. 1985 Jul;69(7):522-4. doi: 10.1136/bjo.69.7.522.

DOI:10.1136/bjo.69.7.522
PMID:4016047
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1040660/
Abstract

A 12-year-old boy and an 11-year-old girl, siblings of healthy, consanguineous parents, had a bilateral retinal dystrophy with a gradual loss of vision. The brother showed a bull's eye macular change with sparse fundus flavimaculatus type flecks. The sister had numerous fleck lesions of fundus flavimaculatus throughout the posterior fundus, but there was virtually no macular change. Thus the siblings presented instances of polymorphic expressivity of fundus flavimaculatus.

摘要

一名12岁男孩和一名11岁女孩为健康近亲父母的子女,患有双侧视网膜营养不良,视力逐渐丧失。男孩表现为黄斑部靶心样改变,伴有少量眼底卵黄样黄斑营养不良型斑点。女孩整个眼底后极部有大量眼底卵黄样黄斑营养不良的斑点状病变,但黄斑部几乎没有改变。因此,这对兄妹表现出眼底卵黄样黄斑营养不良的多态性表达情况。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a29/1040660/b28511111d96/brjopthal00139-0057-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a29/1040660/f273712d38c1/brjopthal00139-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a29/1040660/bc62614f197f/brjopthal00139-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a29/1040660/b28511111d96/brjopthal00139-0057-c.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a29/1040660/f273712d38c1/brjopthal00139-0057-a.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a29/1040660/bc62614f197f/brjopthal00139-0057-b.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9a29/1040660/b28511111d96/brjopthal00139-0057-c.jpg

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引用本文的文献

1
Stargardt's disease and fundus flavimaculatus: evaluation of morphologic progression and intrafamilial co-existence.斯塔加特病和黄斑病变:形态学进展及家族内共存情况的评估
Trans Am Ophthalmol Soc. 1986;84:453-87.

本文引用的文献

1
Fundus flavimaculatus. Clinical, functional and histopathologic observations.
Am J Ophthalmol. 1967 Jul;64(1):3-23.
2
[Fundus flavimaculatus].[黄斑部黄色斑点症]
Arch Ophtalmol Rev Gen Ophtalmol. 1965 Sep;25(6):505-30.
3
Stargardt's disease and fundus flavimaculatus.
Arch Ophthalmol. 1979 Jul;97(7):1281-5. doi: 10.1001/archopht.1979.01020020023005.