Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic...

To investigate mutations in 234 genes associated with retinal dystrophies in a cohort of 298 probands with early-onset high myopia using whole exome sequencing.

Genomic DNA from 298 probands with early-onset high myopia was analyzed by whole exome sequencing. Variants from 234 genes were selected and analyzed by multistep bioinformatics analyses.

Systematic analysis of variants in the 234 genes identified potential pathogenic mutations in 34 of 234 genes in 71 of 298 (23.8%) probands. Of the 71 probands, 44 (62.0%) had mutations in 11 genes responsible for ocular diseases accompanied by high myopia, including COL2A1, COL11A1, PRPH2, FBN1, GNAT1, OPA1, PAX2, GUCY2D, TSPAN12, CACNA1F, and RPGR. Initial clinical records of the 71 patients with mutations did not show recognizable signs of original diseases other than high myopia.

Mutations in genes known to be responsible for retinal diseases were found in approximately one-fourth of the probands with early-onset high myopia. The high mutation frequency of RetNet genes in these patients can provide clues for genetic screening and further specific clinical examinations of high myopia to promote long-term follow-up assessment and prompt treatment of some diseases.