Purpose Mutations of gene NYX and GRM6 were detected in patients with high myopia alone without night blindness. VSX1 is a bipolar cell gene like NYX and GRM6, as they are expressed at the post synaptic sites of ON-bipolar cells and required for retinal ON pathway signaling. The purpose of this study is to test whether variations in VSX1 associated with high myopia.
Methods Genomic DNA of every participant was extracted form leukocytes in the peripheral venous blood. Polymerase Chain Reaction (PCR) and Cycle sequencing were used to detect sequence variations of VSX1. Web online tools like Polyphen-2 and SIFT were used to predict the effects of the variations on the protein function.
Results A total of 8 variations were detected, including 4 novel and 4 reported variations. Two variations (c.208G>C and c.253C>T) were found in two patients with high myopia but not in 96 normal controls. The others were likely to be polymorphisms as they were detected in high myopia patients as well as normal controls.
Conclusions Two VSX1 variations were detected in two patients with high myopia, the role of gene VSX1 in high myopia development requires further functional study.