The Genetic Testing of Hereditary Eye Diseases

n 2008, He Eye Hospital performed genetic diagnosis of Liu brothers from Liaoning Huanren County, who went blind successively with unknown reason. They determined that the Liu brothers and their family members suffered from "Leber Hereditary Optic Neuropathy". He Eye Hospital not only opened the mysterious veil of the strange disease, but also made the genetic map of the family and offered genetic counseling for them.
He Eye Hospital also cooperated with Chinese academy of sciences-Beijing genomics institute to carry out a genetic sequencing of a world-rarely larg1e cataract family. It contained seven generations, totaling 230 persons. The decoding of the family mutant gene will contribute great medical value to the cataract pathogenic gene research and epidemiological investigation in China and even the world.
He Eye Hospital could have made such an achievement in genetic testing in that the Biotech Co., Ltd affiliated to HE Group has held the international advanced molecular biology research facilities, such as DNA sequencer, protein sequencer, peptide synthesizer, DNA spot film machine, in situ hybridization instrument, chip scanner and etc, and built up a high-quality team. After years of research efforts, He Eye Hospital has successively developed retinoblastoma, primary open-angle glaucoma, primary congenital glaucoma, age-related macular degeneration, corneal dystrophy and other genetic testing projects of hereditary eye diseases so that the genetic testing service of hereditary eye diseases could be carried out in Liaoning Province. Genetic testing specimen collection is also very simple; in addition to venous blood collection, patients from afar can also dip tampons into the mouth, or pull some of hair and then send them to hospital for accurate diagnosis.
With the rapid development of medicine, molecular biology and other disciplines, genetic testing is bound to become an important testing method for hereditary diseases. Genetic testing not only can ascertain pathogenesis and guide treatment, but also can make early diagnosis and early treatment for high-risk groups (patients’ family) to avoid irreversible visual function loss, and also help the hereditary diseases family to promote good prenatal and postnatal care.