Chelva E, McLaren T L, Kay S M, Collins D W, Black J L, Candy D R
Department of Biophysics, Sir Chalres Gairdner Hospital, Perth, Western Australia.
Aust N Z J Ophthalmol. 1992 Nov;20(4):311-7. doi: 10.1111/j.1442-9071.1992.tb00743.x.
This paper describes the main elements of the Western Australian retinitis pigmentosa register including details of the data stored on the register, aspects of the coding systems used and some description of the tests employed in diagnosis of retinitis pigmentosa. The register is family based and contains data on affected individuals and on their unaffected relatives. As at November 1991, the register contained data for 391 individuals from 207 separate families. Of the 391 individuals, 240 had definite or probable retinitis pigmentosa and 26 were possibly affected. The remainder were unaffected family members. In many cases, both affected and unaffected family members are being studied serially and the register is designed to store and easily retrieve serial data to allow study of disease progression for individuals and within families.
本文描述了西澳大利亚视网膜色素变性登记册的主要内容，包括登记册中存储的数据细节、所使用编码系统的相关方面，以及对用于视网膜色素变性诊断的一些检测方法的描述。该登记册基于家庭，包含了受影响个体及其未受影响亲属的数据。截至1991年11月，该登记册包含了来自207个不同家庭的391个人的数据。在这391个人中，240人患有明确或可能的视网膜色素变性，26人可能受到影响。其余的是未受影响的家庭成员。在许多情况下，受影响和未受影响的家庭成员都在接受连续研究，该登记册旨在存储并便于检索连续数据，以便对个体和家庭内部的疾病进展情况进行研究。
