Arden G B, Gorin M B, Polkinghorne P J, Jay M, Bird A C
Institute of Ophthalmology, University of London, England.
Am J Ophthalmol. 1988 Jun 15;105(6):590-5. doi: 10.1016/0002-9394(88)90049-9.
We determined the extent of suppressive rod-cone interaction in 11 obligate carriers and eight potential carriers of X-linked retinoschisis from eight families. Despite otherwise normal ophthalmoscopic and functional testing, all of the obligate heterozygous carriers demonstrated a complete absence of normal rod-cone interaction. Of the potential heterozygous carriers, three had normal rod-cone interactions, two had no detectable interaction, and two yielded technically unsatisfactory results. This lack of rod-cone interactions allows heterozygous individuals to be identified clinically and has implications concerning the origin of this inherited disorder.
我们确定了来自8个家庭的11名X连锁视网膜劈裂症的 obligate携带者和8名潜在携带者中抑制性视杆-视锥细胞相互作用的程度。尽管在其他方面眼底检查和功能测试正常,但所有 obligate杂合子携带者均表现出完全缺乏正常的视杆-视锥细胞相互作用。在潜在的杂合子携带者中,3人有正常的视杆-视锥细胞相互作用,2人未检测到相互作用,2人的结果在技术上不令人满意。这种视杆-视锥细胞相互作用的缺乏使得杂合子个体能够在临床上被识别出来,并对这种遗传性疾病的起源具有重要意义。