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
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