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血管样条纹症合并黄斑部盘状变性一例报告

北京医学 1982年第2期 122-122页

作者：唐双和李树柏中国人民解放军三○九医院眼科

血管样条纹症合并皮肤假性弹性黄色瘤称为Groenblad-Strandberg氏综合征,系一罕见病。现将我科所见一例报告如下。患者,白某,女,42岁。因双眼视物模糊,左眼6年。右眼1个月,于1978年2月28日入院。曾于1966年查视力:右1.0,左0.8;1972年始... 详细信息

血管样条纹症合并皮肤假性弹性黄色瘤称为Groenblad-Strandberg氏综合征,系一罕见病。现将我科所见一例报告如下。患者,白某,女,42岁。因双眼视物模糊,左眼6年。右眼1个月,于1978年2月28日入院。曾于1966年查视力:右1.0,左0.8;1972年始觉左眼视

关键词：黄斑部盘状血管样条纹症左眼视网膜疾病双眼中心暗点中央暗点视乳头视神经

弹力纤维性假黄瘤眼部图形样营养不良的光谱分析

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世界核心医学期刊文摘（眼科学分册） 2005年第11期1卷 17-18页

作者： Agarwal A. Patel P. Adkins T. 黎黎 Vanderbilt Eye Institute Vanderbilt University Medical Center Medical Center East Nashville TN 37232 -8808 United States Dr.

Objective: To study the prevalence, type, and features of pattern dystrophy in patients with pseudoxanthoma elasticum (PXE). Methods: Asearch of the photograp hic records at theVanderbilt Eye Institute using the “angioid streaks and pseudoxanthoma elasticum”yielded 28 names. Of the 23 subjects meeting the p atient selection criteria, 22 were confirmed to have a positive diagnosis for PX E after reviewing themedical history information. The diagnosis was confirmed by the constellation of fundus findings in all 22 subjects, by a clinical examinat ion of the skin in 9, and by a skin biopsy specimen in 1. Results: Pattern dystr ophy was present in 16 patients (27 eyes) of those with PXE. Fourteen patients ( 23 eyes) had fundus pulverulentus, 3 patients (5 eyes) had butterfly-shaped dys trophy,and 1 patient (2 eyes) each had fundus flavimaculatus and reticular dystr ophy. One eye of one patient developed solitary vitelliform pattern dystrophy du ring follow-up. Two patients showed progression from one pattern into another d uring follow-up. Another patient, who at first showed no evidence of pattern dy strophy in either eye, developed fundus pulverulentus in both eyes 5 years later . One patient had simultaneous evidence of 2 types: butterfly and fundus flavima culatus pattern in each eye. Angioid streaks were seen in each eye of all patien ts. Peau d’orange was noted in 18 patients, optic nerve drusen in 5, and retina l crystalline bodies in 9. Choroidal neovascular membrane was present in 15 pati ents. Conclusions: All 5 varieties of pattern dystrophy, 2 ofwhichwere not previ ously associatedwith PXE, were seen in patients with PXE. Fluorescein angiogram was useful in delineating the type and extent of pattern dystrophy.

关键词：血管样条纹症脉络膜新生血管玻璃膜疣皮肤标本眼底荧光造影搜索关键词病史资料图像资料

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眼底荧光血管造影的临床初步应用(附32例分析)

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浙江大学学报(医学版) 1982年第1期11卷 33-36+51页

作者：金毓珠蔡祖楠浙江医科大学附属第一医院眼科

自Novotny和Alvis 1961年首创眼底荧光血管造影法以后,由于眼科工作者的重视,这种检查法很快就被推广应用,此法系将荧光素钠注入血管内做造影剂,用特定滤光片组合的眼底照相机,连续拍摄荧光素通过眼底循行时的荧光形态。这一方法不仅能... 详细信息

自Novotny和Alvis 1961年首创眼底荧光血管造影法以后,由于眼科工作者的重视,这种检查法很快就被推广应用,此法系将荧光素钠注入血管内做造影剂,用特定滤光片组合的眼底照相机,连续拍摄荧光素通过眼底循行时的荧光形态。这一方法不仅能在活体上观察到眼底血管的细微结构,且对眼底病的诊断、治疗、疗效观察以及发病机制的研究亦有重大意义。我院从1979年初开始进行荧光血管造影工作。我们先在眼底镜光源上安装4750埃干涉滤光片,对10只家兔进行动物实验,取10％荧光素钠3～5ml由家兔耳静脉注入进行

关键词：色素上皮脱离动脉期脉络膜浆液性眼底血管样条纹血管样条纹症神经上皮视盘葡萄膜感觉上皮眼底荧光血管造影静脉期中心性浆液性视网膜脉络膜病变眼底病

在日本家系中弹力纤维性假黄瘤和视网膜色素变性的ABCC6基因上发现新的基因突变

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世界核心医学期刊文摘（眼科学分册） 2005年第8期1卷 50-51页

作者： Yoshida S. Honda M. Yoshida A. 司冰心 Department of Ophthalmology Kyushu University Graduate School of MedicineFukuoka 812-8582 Japan

Purpose: To report a novel mutation of the ABCC6 gene in a Japanese family tha t had a case of pseudoxanthoma elasticum (PXE) another with PXE and retinitis pi gmentosa. Methods: Ophthalmologic examinations were performed, and the ABCC6 gen e was analysed by direct genomic sequencing. Results: Fundus examinations of the 48-year-old proband disclosed angioid streaks and a peud’orange apparance of the retina of the both eyes, whereas both of his 25-and 20-year-old daughter s had pigmentary degeneration and angioid streaks. In the sibilings, the mixed cone-rod ERG was almost nond etectable, whereas that of the proband was well-preserved. Molecular genetic an alysis revealed that the proband has a homozygous nonsense mutation at the 595 b p in the ABCC6, and the siblings were heterozygous for the same mutation. This m utation was not detected in Japanese subjects in the JSNP database (http:// snp. ***/). Conculsions: Our results demonstrated an association betwe en a novel mutation in the ABCC6 gene and PXE in a Japanese family.

关键词：视网膜色素变性 ABCC6 基因突变视网膜电图血管样条纹症视杆眼底检查眼视网膜先证者眼科检查

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