A5102958911- Retinal Development and Disorders
- melanin and skin pigmentation
- Retinal Diseases and Treatments
Chinese Academy of Medical Sciences & Peking Union Medical College
2020
Science and Technology Commission of Shanghai Municipality
2020
National Health and Family Planning Commission
2020
Fudan University
2020
Eye & ENT Hospital of Fudan University
2020
Aims To investigate the frequency of USH2A mutation and clinical genetic differences between Usher syndrome type II (USH2) retinitis pigmentosa (RP) in a large cohort Chinese patients. Methods A total 1381 patients with inherited retinal disease (IRD) were recruited. The phenotypic genotypic information mutations was evaluated. Results prevalence 15.75%, which most frequently detected gene this Hotspot c.8559-2A >G c.2802T >G. Patients USH2 had an earlier more serious decline visual...