Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.
Xiaoxu HanShijing WuMin WangHui LiYan HuangRuifang SuiPublished in: Molecular genetics & genomic medicine (2020)
Our study first described the ophthalmic and neurologic characteristics of a small cohort of unrelated mainland Chinese patients with sialidosis type 1. We found that c.544A>G (p. S182G) might be a hotspot variant in Chinese patients. The accumulation of metabolic products in the nerve fiber and ganglion cell layers is a characteristic ocular finding that could be sensitively detected by OCT and FAF imaging.