Mullaney J
Trans Ophthalmol Soc U K (1962). 1977 Sep;97(4):517-22.
The humble coloboma has been taken as a model in an attempt to illustrate the benefit of continued observation and the application of increasingly sophisticated methods of investigation in the genetic and biochemical areas. The recent literature is reviewed with particular reference to publications dealing with colobomata and systemic malformations. Polycystic renal disease has been produced in animals and the application of the method used to a study of the eye may help to explain some of the unusual systemic clinical combinations which may occur in human cases. A simple factor may yet emerge to account for these anomalies rather than the multifactorial explanations previously postulated.
单纯的缺损已被用作一个模型，旨在说明持续观察的益处以及在遗传学和生物化学领域应用日益精密的研究方法的作用。本文回顾了近期的文献，特别提及了有关缺损和全身畸形的出版物。多囊肾病已在动物身上诱发，将所用方法应用于眼部研究可能有助于解释人类病例中可能出现的一些异常的全身临床组合。一个简单的因素可能会出现，用以解释这些异常，而非先前假定的多因素解释。
