Gabriel Luis A R, Traboulsi Elias I
Department of Pediatric Ophthalmology and Strabismus and the Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic, Cleveland, USA.
Middle East Afr J Ophthalmol. 2011 Jan;18(1):24-9. doi: 10.4103/0974-9233.75881.
Accurate molecular diagnosis of genetic eye diseases has proven to be of great importance because of the prognostic and therapeutic value of an accurate ascertainment of the underlying genetic mutation. Efforts continue in diagnostic laboratories to develop strategies that allow the discovery of responsible gene/mutations in the individual patient using the least number of assays and economizing on the expenses and time involved in the process. Once the ophthalmologist has made the best possible clinical diagnosis, blood samples are obtained for genetic testing. In this paper we will review the basic laboratory methods utilized to identify the chromosomal or mutational etiology of genetic diseases that affect the eye.
由于准确确定潜在基因突变具有预后和治疗价值，遗传眼病的准确分子诊断已被证明非常重要。诊断实验室一直在努力制定策略，以便使用最少的检测方法发现个体患者中致病的基因/突变，并节省该过程所涉及的费用和时间。一旦眼科医生做出了尽可能准确的临床诊断，就会采集血样进行基因检测。在本文中，我们将回顾用于确定影响眼睛的遗传疾病的染色体或突变病因的基本实验室方法。
