Abstract
Purpose :
We previously proposed that TENM4 and CSMD1 are susceptible causative gene for high myopia (PNAS 2017). This study aims to investigate the prevalence of TENM4 and CSMD1 variants in pathologic myopia (PM) in a Chinese cohort.
Methods :
One hundred unrelated non-syndromic PM patients were recruited in this study. Patients with fundus changes including posterior staphyloma and myopic maculopathy equal to or more serious than diffuse choroidal atrophy were defined as PM. DNA were subjected to whole-exome sequencing. Variants of TENM4 and CSMD1 were selected and analyzed by multistep bioinformatics analyses.
Results :
Pathologic mutations of TENM4 and CSMD1 were detected in 15 (15%) and 8 (8%) unrelated patients respectively. These mutations were rare or absent in the 1000 Genomes Project and Exome Aggregation Consortium. Age and axial length distribution are presented in figures below.
Conclusions :
TENM4 and CSMD1 might be responsible for high myopia. This finding provides supportive information for further study of causative gene of high myopia.
This abstract was presented at the 2022 ARVO Annual Meeting, held in Denver, CO, May 1-4, 2022, and virtually.