Table 1.

Defects in the EYS gene in patients for this study

Patient #	ID	Sex	Age (y)	Allele 1		Allele 2
				Mutation	Effect	Mutation	Effect
1	RP38	F	67	c.4957dupA	p.Ser1653Lysfs*2	c.4957dupA	p.Ser1653Lysfs*2
2	RP174	M	58	c.4957dupA	p.Ser1653Lysfs*2	c.8805C > A	p.Tyr2935*
3	RP165	F	79	c.4957dupA	p.Ser1653Lysfs*2	c.1211dupA	p.Asn404Lysfs*3