Greenberg J, Ramesar R, Beighton P
Department of Human Genetics, University of Cape Town.
S Afr Med J. 1994 Jul;84(7):410-2.
The term 'retinitis pigmentosa' (RP) encompasses a group of hereditary degenerative disorders of the retina, which are both genetically and clinically heterogeneous. The finding of molecular markers for certain forms of RP potentially allows for presymptomatic and prenatal diagnosis of a proportion of RP families. These developments and their implications for affected South African families are highlighted in this article.
术语“色素性视网膜炎”（RP）涵盖了一组视网膜遗传性退行性疾病，这些疾病在遗传和临床方面都具有异质性。某些形式的色素性视网膜炎分子标志物的发现可能使一部分色素性视网膜炎家族能够进行症状前和产前诊断。本文重点介绍了这些进展及其对受影响的南非家庭的影响。
