PRPH2 and coloboma of macula: The remaining seven variants were considered variants of uncertain significance and were detected in seven families that showed phenotypes unrelated to PRPH2, including 2/7 probands no older than 10 years old who carried truncation variants and were diagnosed with congenital ectopia lentis and retinoblastoma, respectively; 3/7 with missense variants presented with early-onset high myopia and macular coloboma; 1/7 probands carrying the in-frame variant was diagnosed with primary open angle glaucoma; and 1/7 individuals did not show any ocular abnormalities (Supplementary Figure S3).