无脉络膜症的发病机制及诊疗进展.
In: Progress in Modern Biomedicine, Jg. 15 (2015-03-01), Heft 7, S. 1369-1372
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Zugriff:
Choroideremia CHM) is an X-linked recessive inherited disease characterized by progressive degeneration of the choroid, retinal pigment epithelium, and the retina [1]. Affected males experience night blindness in childhood, followed by progressive loss that leads to legal blindness later in life. Female carriers generally do not show serious visual impairment, but they may have patchy areas of pigmentation and retinal pigment epithelium (RPE) degeneration due to random X-inactivation. [ABSTRACT FROM AUTHOR]
无脉络膜( CHM)是一种 X 染色体连锁的遗传性进行性视网 膜色素上皮,光感受细胞和脉络膜血管逐渐退化, 最终致盲的疾 病。 该病是由于位于 Xq21 上的 REP-1 缺失突变导致失活,导致 CHM 基因不能表达,从而出 现脉络膜血管层发育障碍, 进行性视 网 膜色素上皮和脉络膜营养不良,变性及进行性脉络膜萎缩消失。 男性患者一般在十几岁至二十几岁时开始出 现夜盲,周 边视野 逐渐丧失,形成管状视野, 严重者仅剩 5-10 度的中央视野, 最终失明。 女性携带者大多 无症状。 [ABSTRACT FROM AUTHOR]
Titel: |
无脉络膜症的发病机制及诊疗进展.
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Autor/in / Beteiligte Person: | 孙青 ; 张瑞峰 ; 李华栋 ; 许博 ; 张妍 ; 滕岩 |
Link: | |
Zeitschrift: | Progress in Modern Biomedicine, Jg. 15 (2015-03-01), Heft 7, S. 1369-1372 |
Veröffentlichung: | 2015 |
Medientyp: | academicJournal |
ISSN: | 1673-6273 (print) |
DOI: | 10.13241/j.cnki.pmb.2015.07.045 |
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