AIM:To study ATOH7 and RFTN1 sequence variations in patients with juvenile primary open-angle glaucoma(JOAG).

METHODS: In 298 controls(age≥60y)and 52 JOAG(age<35y), we collected samples from the patients and controls of study, extracted the DNA, and then the single exon of ATOH7 was sequenced by direct sequencing. Additional single nucleotide polymorphisms the RFTN1 SNP(rs690037)and at upstream ATOH7(rs1900004 and rs3858145)were genotyped by Taqman assay.

RESULTS: No any coding mutation was detected in JOAG. There were no significance in allele frequencies and haplotypes between JOAG and control group of rs7916697, rs61854782, rs1900004、rs3858145 and rs690037, so no SNP was associated with JOAG(P>0.05).

CONCLUSION: Although preliminary study has showed combination of ATOH7 and RFTN1 SNPs could increase the risk of getting adult-onset primary open angle glaucoma, ATOH7 and RFTN1 are not associated with juvenile primary open-angle glaucoma in this study, so different types of open-angle glaucoma may be differences in genetic mechanism and be worthy of further study.