Fig. 4

The specific ophthalmology examination results during follow-up for six probands in our cohort. The clinical findings of highly myopic eyes are boxed in red. A–F, the traditional fundus images of the three patients (F1-II:1; F2-II:2; F6-II:2) with variants in genes related to Stickler syndrome (COL2A1 and COL11A1) demonstrates the typical myopic fundus, while ultra-widefield fundus images show the specific peripheral fundus changes including lattice degeneration and peripheral retinal pigmentation in the highly myopic eyes. The corresponding magnified images of the local retinal region (outlined by white dashed lines in an ultra-widefield fundus image) illustrate the similar fundus changes. G–H, the posterior fundus images of the GPR143 carrier (F18-II:1) shows myopic fundus, and ultra-widefield fundus images and magnified images demonstrate the nonuniform fundus pigmentation in both eyes. I-L, the fundus images of two probands (F11-II:1; F9-II:1) with variants in genes related to FEVR (LRP5 and FZD4) illustrate classic myopic fundus in the posterior pole, the peripheral avascular region, and fluorescein leakage were observed in fluorescein angiography