The development and importance of molecular diagnosis in hereditary retinal diseases

Abstract

Hereditary retinal disease(HRD) is a group of retinal degenerations seen frequently at clinic,which can lead to severe visual impairments or even blindness.Identifying genetic causes and developing advanced and applicable molecular diagnostic tools for HRD is essential to lower the prevalence of HRD, and to find the therapeutic method of HRD. HRD is known to be both clinically and genetically heterogeneous. The large number of causative genes together with the limitation of routine technique hinder the investigators from further investigating the genetic causes of HRD. Targeted genes capture with next-generation high throughput sequencing yield high sensitivity and speed for mutation detection.When compared with traditional techniques, targeted sequencing presents tremendous advantages. Therefore, the development of a powerful molecular diagnostic platform for HRD aims to improve the detection rate of causative genes/mutations in HRD patients, to further investigate the genetic causes for HRD, to better understand the pathological basis of HRD, and to promote the fast development of molecular diagnosis in China. Meanwhile, it will have significance for the clinical and prenatal diagnosis of HRD, and thus providing rationale for gene therapy on HRD.