Clinical and genetic characterization of a large cohort of Chinese patients with Bietti crystalline retinopathy.
Huajin LiXing WeiShijing WuTian ZhuZixi SunHui LiXiaoxu HanXuan ZouFengxia YaoRuifang SuiPublished in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2023)
BCR patients preserved relatively good vision before 40 years old. Two distinct clinical types of BCR were observed. BCR patients with IVS6-8/Tru had an earlier decline in visual acuity than those with homo IVS6-8. Our findings enhance the knowledge of BCR and will be helpful in patient selection for gene therapy.