由RPGR外显子ORF15突变引起的X连锁性视锥-视杆营养不良（CORDX1）的组织病理学研究
Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15.
作者信息
Demirci F Yesim K, Gupta Nisha, Radak Amy L, Rigatti Brian W, Mah Tammy S, Milam Ann H, Gorin Michael B
机构信息
Department of Ophthalmology, UPMC Eye Center, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA.
出版信息
Am J Ophthalmol. 2005 Feb;139(2):386-8. doi: 10.1016/j.ajo.2004.08.041.
PURPOSE
To evaluate the donor retina of a patient with X-linked cone-rod dystrophy caused by an RPGR exon ORF15 mutation.
DESIGN
Histopathologic study of the retina.
METHODS
The eye of a 69-year-old man was fixed at 1.6 hours postmortem and processed for histopathology and immunocytochemistry.
RESULTS
Grossly, the macula was atrophic with a bull's-eye appearance. The remaining retina showed postmortem edema but no intraretinal pigment. Microscopically, the macular retinal pigment epithelium was absent focally and had pigmentary changes elsewhere. Cones and rods were absent from the perifovea and reduced with shortened outer segments elsewhere in the macula. In the remainder of the retina, cones but not rods were reduced and all photoreceptor outer segments were shortened.
CONCLUSIONS
The abnormalities in both cone and rod photoreceptors confirm the importance of RPGR in both cell types but leaves unresolved how various exon ORF15 mutations lead to different clinical phenotypes.
目的
评估一名因RPGR外显子ORF15突变导致X连锁性锥杆营养不良患者的供体视网膜。
设计
视网膜组织病理学研究。
方法
一名69岁男性的眼睛在死后1.6小时固定，并进行组织病理学和免疫细胞化学处理。
结果
大体上，黄斑萎缩，呈靶心样外观。其余视网膜显示死后水肿，但无视网膜内色素沉着。显微镜下，黄斑视网膜色素上皮局部缺失，其他部位有色素改变。中央凹周围的视锥细胞和视杆细胞缺失，黄斑其他部位的视锥细胞和视杆细胞减少，外节缩短。在视网膜其余部分，视锥细胞减少但视杆细胞未减少，所有光感受器外节均缩短。
结论
视锥细胞和视杆细胞光感受器的异常证实了RPGR在这两种细胞类型中的重要性，但各种外显子ORF15突变如何导致不同的临床表型仍未解决。
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