Figure 1. The pedigrees of nine families with different phenotypes and sequence chromatography of eight heterozygous variants identified in FZD5. In the pedigrees, M means mutation site, + means normal allele. The filled squares (male) and circles (female) represent affected individuals. The filled patterns were divided into five types: solid black pattern (ocular coloboma), striped pattern (ICH or ODH), checked pattern (high myopia), black and white checked pattern (posterior microphthalmia), and mixed pattern (high myopia, ICH and ODH). ICH, inferior chorioretinal hypoplasia; ODH, optic disc hypoplasia. The black arrows indicate probands.