Search

Corneal collagen cross-linking (CXL) strengthens the biomechanical properties of damaged corneas. Quantifying the changes of stiffness due to different CXL protocols is difficult, especially in vivo. A noninvasive elastic wave-based optical coherence elastography system was developed to construct in vivo corneal elasticity maps by excitation of air puff. Biomechanical differences were compared for rabbit corneas given three different CXL protocols while keeping the total energy delivered constant. The Young's modulus was weaker in corneas treated with higher irradiance levels over shorter durations, and a slight increase of Young's modulus was present in all groups one week after the recovery process. Due to the noninvasive nature and minimal force to generate corneal elastic waves, this technique has the potential for early detection and treatment of corneal diseases in clinic. [ABSTRACT FROM AUTHOR]

The etiology of the highly myopic condition has been unclear for decades. We investigated the genetic contributions to early-onset high myopia (EOHM), which is defined as having a refraction of less than or equal to -6 diopters before the age of 6, when children are less likely to be exposed to high educational pressures. Trios (two nonmyopic parents and one child) were examined to uncover pathogenic mutations using whole-exome sequencing. We identified parent-transmitted biallelic mutations or de novo mutations in asyet-unknown or reported genes in 16 probands. Interestingly, an increased rate of de novo mutations was identified in the EOHM patients. Among the newly identified candidate genes, a BSG mutation was identified in one EOHM proband. Expanded screening of 1,040 patients found an additional four mutations in the same gene. Then, we generated Bsg mutant mice to further elucidate the functional impact of this gene and observed typical myopic phenotypes, including an elongated axial length. Using a trio-based exonic screening study in EOHM, we deciphered a prominent role for de novo mutations in EOHM patients without myopic parents. The discovery of a disease gene, BSG, provides insights into myopic development and its etiology, which expands our current understanding of high myopia and might be useful for future treatment and prevention. [ABSTRACT FROM AUTHOR]