Table 1. Summary of posterior polymorphous corneal dystrophy (PPCD) probands included in this study.

No	Family ID	Gender/age (years)	Ethnic origin	Family history	Methods used for analysis of CNVs in the ZEB1 genomic region
1	C15	M/34	Caucasian	Y	Illumina HumanOmniExpress BeadChip qRT-PCR
2	C17	M/32	Caucasian	Y	WES Illumina HumanCytoSNP-12 v2.1 BeadChip qRT-PCR
3	C21	M/27	Caucasian	N	qRT-PCR
4	C23	M/48	Caucasian	N	Illumina HumanOmniExpress BeadChip qRT-PCR
5	C26	F/54	Caucasian	Y	Illumina HumanOmniExpress BeadChip qRT-PCR
6	C27	F/77	Caucasian	N	Illumina HumanOmniExpress BeadChip qRT-PCR
7	C29	F/48	Caucasian	N	qRT-PCR
8	B8	M/26	Caucasian	N	qRT-PCR Illumina HumanCytoSNP-12 v2.1 BeadChip
9	NZ6	M/37	Caucasian	Y	qRT-PCR
10	NZ54	M/57	Caucasian	N	qRT-PCR
11	NZ220	F/18	Caucasian	Y	qRT-PCR
12	NZ222	M/10	Maori	N	qRT-PCR
13	NZ226	F/80	Caucasian	N	qRT-PCR
14	NZ308	M/39	Tongan	N	qRT-PCR

Abbreviations: B, British; C, Czech; CNVs, copy number variations; F, female; M, male; NZ, New Zealander; qRT-PCR, quantitative real-time PCR; WES, whole-exome sequencing.

All probands were previously determined to be negative for ZEB1 coding and/or splice-site mutations. A positive family history indicates that at least one other family member has been examined ophthalmologically and diagnosed with PPCD. Negative family history does not entirely exclude the presence of the disease in other family members as not all first-degree relatives could be examined.