Table 1.

Number of detected variants, pathogenic variants, and genetically solved patients in each step.

		Detected variants	Variants evaluated as pathogenic by the criteria			Genetically solved patients
			(1) "DM" or "DM?" in HGMD professional	(2) "pathogenic" or "likely pathogenic" by ACMG guidelines	(3) Large deletions or insertions
Step1	Sanger sequence for two EYS founder mutations	2	2			8
Step2	Targeted sequencing for all EYS exons	67	14	5	0	41
Step3	Whole Genome Sequence	1730	86	81	6	44
Step4	Sanger sequence for Alu element	1			1	5
					Total solved patients	98

Totally 98 patients were genetically solved.