Genetic testing brought my family back to the light.

What is congenital cataract? Congenital cataract exists before and after birth, and its incidence is 0.05% in China. Cataracts can cause blindness or amblyopia in infants and young children. 22% to 30% of blind children are caused by cataracts, which has become the second cause of childhood blindness. Cataracts can be simple or associated with developmental abnormalities of the eye or frontal face. About 1/3 of patients with congenital cataracts have genetic factors, the most common is autosomal dominant inheritance, some show irregular intergenerational inheritance; recessive inheritance is mostly related to consanguineous marriage. What is high-throughput sequencing? For example, there are hundreds of fish in a pond, of which only one golden carp is the one we want to catch. Traditional generation sequencing is like fishing, you can only catch one fish at a time by casting the hook, so very often what we get is not the golden carp we want. High-throughput sequencing is similar to casting a big net to catch all the fish in the pond, and then we pick out the golden carp we want. Compared to casting a net, it is more time-saving and labor-saving. In addition, our Henan Institute of Medical Genetics at Henan Provincial People’s Hospital is the only pilot unit in Henan Province that can carry out clinical applications of high-throughput sequencing.