Article
A multistage cost-effective strategy for the molecular diagnosis of unexplained vision loss patients: practice in inherited ocular fundus disease.
Molecular genetics and genomics : MGG - 21 Mar 2026
Wang Junyi, Li Jia, Dai Limeng, Zhu Xintong, Long Yanling, Meng Xiaohong, Li Shiying, Huang Xiaoyong, Guo Hong
Abstract excerpt
Inherited ocular fundus diseases are the most common causes of blindness with high heterogeneity. We established a tiered strategy for the molecular diagnosis of unexplained vision loss patients. Patients were screened with ophthalmological examinations followed by a tiered genetic diagnosis, including mitochondrial genome sequencing, multigene panel and whole exome sequencing. A total of 146 individuals with...
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