Abstract: Pathological myopia is one of the most frequent causes of visual impairment in Asian population and is now deemed to be highly relevant to genetic factors. In recent years, a number of genetic loci for pathological myopia have been identified, including genes for collagen, lumican, growth factors, transcriptional factors, and so on. These genetic loci may affect the development of the eye and cause pathological myopia by acting on different structures, such as sclera, cornea and retina. (Int Rev Ophthalmol, 2014, 38: 194-198)