Genetic and clinical characterization of mainland Chinese patients with sialidosis type 1.

Xiaoxu HanShijing WuMin WangHui LiYan HuangRuifang Sui

Published 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.

Keyphrases

optic nerve
high resolution
single cell
cell therapy
optical coherence tomography
genome wide
neuropathic pain
diabetic retinopathy
stem cells
gene expression
copy number
cord blood
peripheral nerve