【分享】是否在临床遇到过gyrate atrophy of choroid and retina？
发布于 2014-11-14 · 浏览 757 · IP 山西山西
这个帖子发布于 10 年零 171 天前，其中的信息可能已发生改变或有所发展。
回旋状脉络膜视网膜萎缩：
回旋状脉络膜视网膜萎缩是一种遗传性、与氨基酸代谢障碍有关的疾病。通常从赤道部开始，向中心及周边部扩展，最后累及眼底大部分，可造成严重的视功能障碍。Cutter Fuchs正式为回旋状脉络膜视网膜萎缩命名。Takk发现回旋状脉络膜视网膜萎缩，患者有高鸟氨酸血症及鸟氨酸尿症。
1.视功能障碍
回旋状脉络膜视网膜萎缩患者多在10之前开始出现夜盲，随着病程进展，中心视力下降，并随年龄加大而逐渐加重。当病变累及黄斑部，视力极度减退，可仅剩光感，一般到40-50岁失明。
2.眼底改变
早期患者眼底赤道部出现边界清楚的脉络膜萎缩斑，形状不规则、边缘呈锯齿状，萎缩斑之间眼底正常。以后萎缩斑缓慢扩展，散在的萎缩斑逐渐融合成片，呈花环状，并向后极及周边部延伸扩展，亦可在视盘周围形成一个萎缩环此环与赤道部的萎缩环之间可形成一个有视功能存在的环形区域，最后眼底呈黄白色，几乎所有的眼底范围受损，仅保留黄斑区。此时眼底所见与无脉络膜症者相似。视盘呈蜡黄色或淡红色。晚期病例可出现色素增生，其间散布有针尖状结晶。另外，视网膜血管细窄、视盘苍白。在大多数40-60岁的晚期病例中后极部脉络膜视网膜广泛受累，眼底外观类似于晚期无脉络膜症。
3.眼底荧光血管造影
早期可以见到典型的境界清楚的回旋形萎缩区，萎缩区内脉络膜大血管清晰可见，有时早期萎缩斑外缘的色素上皮透明，并从此处可见到脉络膜血管。荧光染料向血管周围渗漏，渗漏区域比检眼镜所见病变的范围大，说明色素上皮有广泛性损害。晚期脉络膜全层萎缩后，出现巩膜强荧光。
信息源： http://baike.baidu.com/view/5548027.htm
People suffering from gyrate atrophy of the choroid (the thin coating of the eye) and retina face a progressive loss of vision, with total blindness usually occurring between the ages of 40 and 60. The disease is an inborn error of metabolism.
The gene whose mutation causes gyrate atrophy is found on chromosome 10, and encodes an enzyme called ornithine ketoacid aminotransferase (OAT). Different inherited mutations in OAT cause differences in the severity of symptoms of the disease. OAT converts the amino acid ornithine from the urea cycle ultimately into glutamate. In gyrate atrophy, where OAT function is affected, there is an increase in plasma levels of ornithine.
It is already known that reduction of the amino acid arginine in the diet has a salutary effect on most patients. Current lines of research into the disease include: (1) investigating how variant mutations of the alleles (versions of the gene inherited) interact in order to cause the differing symptoms of the disease and (2) work on mouse models of the disease is furthering our understanding, which is hoped will lead to a true cure.
信息源： http://www.ncbi.nlm.nih.gov/books/NBK22249/
Panoramic fundus photography, fluorescein angiography, and optical coherence tomography images in both eyes of the older twin. (A,B) The images show coalescent, scalloped chorioretinal atrophy with well-circumscribed, hyperpigmented margins in the midperiphery of the retina and chorioretinal atrophy of the peripapillary area. (C) Fundus fluorescein angiography in the peripheral retina of the right eye exhibiting slight leakage at the margin of chorioretinal atrophy and hyperfluorescence within the atrophic lesion. (D) Fundus fluorescein angiography of the left eye showing minimal leakage and dye accumulation in the macula. (E,F) Optical coherence tomography in both eyes showing a thickened macula simulating cystoid macular edema.
参考文献见附件
回旋状脉络膜视网膜萎缩是一种遗传性、与氨基酸代谢障碍有关的疾病。通常从赤道部开始，向中心及周边部扩展，最后累及眼底大部分，可造成严重的视功能障碍。Cutter Fuchs正式为回旋状脉络膜视网膜萎缩命名。Takk发现回旋状脉络膜视网膜萎缩，患者有高鸟氨酸血症及鸟氨酸尿症。
1.视功能障碍
回旋状脉络膜视网膜萎缩患者多在10之前开始出现夜盲，随着病程进展，中心视力下降，并随年龄加大而逐渐加重。当病变累及黄斑部，视力极度减退，可仅剩光感，一般到40-50岁失明。
2.眼底改变
早期患者眼底赤道部出现边界清楚的脉络膜萎缩斑，形状不规则、边缘呈锯齿状，萎缩斑之间眼底正常。以后萎缩斑缓慢扩展，散在的萎缩斑逐渐融合成片，呈花环状，并向后极及周边部延伸扩展，亦可在视盘周围形成一个萎缩环此环与赤道部的萎缩环之间可形成一个有视功能存在的环形区域，最后眼底呈黄白色，几乎所有的眼底范围受损，仅保留黄斑区。此时眼底所见与无脉络膜症者相似。视盘呈蜡黄色或淡红色。晚期病例可出现色素增生，其间散布有针尖状结晶。另外，视网膜血管细窄、视盘苍白。在大多数40-60岁的晚期病例中后极部脉络膜视网膜广泛受累，眼底外观类似于晚期无脉络膜症。
3.眼底荧光血管造影
早期可以见到典型的境界清楚的回旋形萎缩区，萎缩区内脉络膜大血管清晰可见，有时早期萎缩斑外缘的色素上皮透明，并从此处可见到脉络膜血管。荧光染料向血管周围渗漏，渗漏区域比检眼镜所见病变的范围大，说明色素上皮有广泛性损害。晚期脉络膜全层萎缩后，出现巩膜强荧光。
信息源： http://baike.baidu.com/view/5548027.htm
People suffering from gyrate atrophy of the choroid (the thin coating of the eye) and retina face a progressive loss of vision, with total blindness usually occurring between the ages of 40 and 60. The disease is an inborn error of metabolism.
The gene whose mutation causes gyrate atrophy is found on chromosome 10, and encodes an enzyme called ornithine ketoacid aminotransferase (OAT). Different inherited mutations in OAT cause differences in the severity of symptoms of the disease. OAT converts the amino acid ornithine from the urea cycle ultimately into glutamate. In gyrate atrophy, where OAT function is affected, there is an increase in plasma levels of ornithine.
It is already known that reduction of the amino acid arginine in the diet has a salutary effect on most patients. Current lines of research into the disease include: (1) investigating how variant mutations of the alleles (versions of the gene inherited) interact in order to cause the differing symptoms of the disease and (2) work on mouse models of the disease is furthering our understanding, which is hoped will lead to a true cure.
信息源： http://www.ncbi.nlm.nih.gov/books/NBK22249/
Panoramic fundus photography, fluorescein angiography, and optical coherence tomography images in both eyes of the older twin. (A,B) The images show coalescent, scalloped chorioretinal atrophy with well-circumscribed, hyperpigmented margins in the midperiphery of the retina and chorioretinal atrophy of the peripapillary area. (C) Fundus fluorescein angiography in the peripheral retina of the right eye exhibiting slight leakage at the margin of chorioretinal atrophy and hyperfluorescence within the atrophic lesion. (D) Fundus fluorescein angiography of the left eye showing minimal leakage and dye accumulation in the macula. (E,F) Optical coherence tomography in both eyes showing a thickened macula simulating cystoid macular edema.
参考文献见附件
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