对一名无脉络膜症女性携带者的视网膜光感受器和色素上皮的评估。
Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia.
作者信息
Syed N, Smith J E, John S K, Seabra M C, Aguirre G D, Milam A H
机构信息
Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA.
出版信息
Ophthalmology. 2001 Apr;108(4):711-20. doi: 10.1016/s0161-6420(00)00643-6.
PURPOSE
To clarify the pathogenesis of choroideremia.
STUDY DESIGN
Human tissue study. TISSUES: Eyes of an 88-year-old symptomatic female carrier of choroideremia (CHM) and six normal, age-matched donors.
METHODS
The eyes were processed for histopathologic examination, including immunocytochemistry with an antibody against the CHM gene product, REP-1, and retinal cell-specific markers.
RESULTS
The CHM carrier retina showed patchy degeneration, but the photoreceptor and retinal pigment epithelium (RPE) loss appeared to be independent. The choriocapillaris was normal except where retinal areas were severely degenerate. The CHM gene product, REP-1, was localized to the cytoplasm of rods but not cones.
CONCLUSIONS
It has generally been considered that photoreceptor degeneration in CHM is secondary to loss of the choriocapillaris or RPE. This study suggests that the rod photoreceptors are a primary site of disease in CHM.
目的
阐明视网膜色素变性的发病机制。
研究设计
人体组织研究。
组织
一名88岁有症状的视网膜色素变性（CHM）女性携带者的眼睛以及六名年龄匹配的正常供体的眼睛。
方法
对眼睛进行组织病理学检查，包括使用针对CHM基因产物REP - 1的抗体以及视网膜细胞特异性标志物进行免疫细胞化学检查。
结果
CHM携带者的视网膜显示出斑片状变性，但光感受器和视网膜色素上皮（RPE）的丧失似乎是独立的。除了视网膜严重变性的区域外，脉络膜毛细血管正常。CHM基因产物REP - 1定位于视杆细胞的细胞质而非视锥细胞。
结论
一般认为CHM中的光感受器变性继发于脉络膜毛细血管或RPE的丧失。本研究表明视杆光感受器是CHM疾病的主要发病部位。
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