In addition, a recent reported case with biallelic EFEMP1 loss-of-function variants (c.320_324del, p.Met107fs; c.615T>A, p.Tyr205Ter) manifested connective tissue abnormalities, including tall stature, hernia, hypermobile joints, thin translucent skin, and importantly high myopia (Driver et al., 2020). Here, EFEMP1 is linked to myopia.