Retinitis pigmentosa is a disease that causes degeneration of the retina, which is the part of the eye that senses light, and causes progressive visual impairment.It is the second leading cause of blindness in Japan, and it is thought that there are about 2 patients in Japan.More than 3 types of causative genes have been reported in hereditary diseases caused by genetic abnormalities.There is no effective treatment method established at this time, but in recent years, gene therapy, which is undergoing clinical research at Kyushu University Hospital, has been studied, and it is known that the progression of the disease differs depending on the causative gene. Therefore, it is becoming more important to identify the causative gene or mutation.Until now, genetic research has been carried out in a large number of cases, mainly in Europe and the United States, but studies on Japanese people have been limited to relatively small-scale studies.

　This time, the joint research group is the DNA of 6 Japanese patients with typical retinal pigment degeneration collected at 1,204 facilities in Japan (Kyushu University, Juntendo University, Tohoku University, Nagoya University, Hamamatsu University School of Medicine, and Yuko Wada Ophthalmology Clinic). Using a sample, the entire base sequence of the translation region (the part translated into protein) of 83 causative genes was investigated.Analysis was carried out at the RIKEN Center for Integrative Medical Sciences, and we succeeded in clarifying the causative genes and mutations characteristic of typical retinitis pigmentosa in Japan.

　This study is expected to be useful not only for understanding the etiology of typical retinitis pigmentosa in Japanese, but also for developing future treatment methods and selecting their indications.

Paper information:[Journal of Medical Genetics] Genetic characteristics of retinitis pigmentosa in 1204 Japanese patients