Fig 1. Pedigree of Family 1.

The proband is V:8 (red arrow) and this pedigree shows the relationship of the 62 individuals examined (see S1 Table for detailed phenotype). There was no male-to-male transmission observed, and the only affected male was V:30, a first cousin of the proband. From branch B, two out of nine individuals examined were affected. There were no individuals examined from branches A and C affected with angle-closure disease. Twelve subjects, four of whom were affected first cousins, were genotyped for genetic linkage analysis, and some were analysed in greater detail by exome and whole genome sequencing. It is suspected that the phenotype in VII:2 and VI:7 is caused by another genetic defect as it is very likely that their disease is inherited from the married in spouse (V:11).