视锥与视杆功能障碍（阿兰岛眼病）的基因定位至人类X染色体短臂近端。
Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) to the proximal short arm of the human X chromosome.
作者信息
Glass I A, Good P, Coleman M P, Fullwood P, Giles M G, Lindsay S, Nemeth A H, Davies K E, Willshaw H A, Fielder A
机构信息
Department of Pediatrics, School of Medicine, University of California, San Francisco 94143.
出版信息
J Med Genet. 1993 Dec;30(12):1044-50. doi: 10.1136/jmg.30.12.1044.
Abstract
A five generation family with an X linked ocular disorder has been investigated. The major clinical features were reduced visual acuity, nystagmus, and myopia. Although impaired night vision was not a symptom, using psychophysical and electrophysiological testing both rod and cone function were found to be abnormal in all affected males. No abnormality was detected in carrier females. Gene location studies showed X linked transmission of a gene that maps to proximal Xp11. The findings observed in this cohort are similar to those previously reported in both congenital stationary night blindness type 2 (CSNB2) and Aland Island eye disease (AIED). This study addresses whether CSNB2 and AIED are a single entity or whether the latter is a subset of the former.
摘要
对一个患有X连锁眼病的五代家族进行了研究。主要临床特征为视力下降、眼球震颤和近视。尽管夜间视力受损不是症状，但通过心理物理学和电生理测试发现，所有受影响男性的视杆和视锥功能均异常。在携带者女性中未检测到异常。基因定位研究表明，一个基因的X连锁传递定位于近端Xp11。在该队列中观察到的结果与先前在先天性静止性夜盲2型（CSNB2）和阿兰岛眼病（AIED）中报道的结果相似。本研究探讨了CSNB2和AIED是单一实体还是后者是前者的一个子集。
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