Table 4.

Twenty-six patients carrying two reported mutations in LCA or juvenile RP genes

Patient ID	Disease presentation	Gene	Type	Mutations
1473	LCA	AIPL1	Homozygous	c.834G>A, p.W278X38
3745	LCA	AIPL1	Compound Heterozygous	c.834G>A, p.W278X38
				c.547G>T, p.G183X4
3746	LCA	AIPL1	Compound Heterozygous	c.834G>A, p.W278X38
				c.547G>T, p.G183X4
393	LCA	AIPL1	Homozygous	c.487C>T, p.Q163X39
3754	LCA	AIPL1	Compound Heterozygous	c.265T>C, p.C89R15
				c.214T>C, p.W72R4
3638	LCA	CEP290	Homozygous	c.2991+1655A>G40
3656	LCA	CEP290	Compound Heterozygous	c.5668G>T, p.G1890X41
				c.2991+1655A>G40
3661	LCA	CEP290	Homozygous	c.2991+1655A>G40
3793	LCA	CEP290	Homozygous	c.4723A>T, p.K1575X42
398	LCA	CRB1	Homozygous	c.610_616del, p.I205DfsX13343
3738	LCA	CRB1	Compound Heterozygous	c.1438T>C, p.C480R43
				c.2945C>A, p.T982K4
1251	LCA	CRB1	Homozygous	c.3996C>A, p.C1332X43
3722	LCA	GUCY2D	Compound Heterozygous	c.1343C>A, p.S448X44
				c.2598G>C, p.K866N45
3778	LCA	GUCY2D	Homozygous	c.1343C>A, p.S448X44
3750	LCA	GUCY2D	Compound Heterozygous	c.2302C>T, p.R768W46
				c.3271C>T, p.R1091X4
3577	LCA	LCA5	Homozygous	c.835C>T, p.Q279X47
54	LCA	LRAT	Homozygous	c.217_218del, p.M73DfsX4848
622	LCA	RDH12	Compound Heterozygous	c.146C>T, p.T49M37
				c.805_809del, p.A269GfsX237
1256	LCA	RDH12	Compound Heterozygous	c.146C>T, p.T49M37
				c.805_809del, p.A269GfsX237
1278	Juvenile RP	RDH12	Homozygous	c.164C>T, p.T55M36
3916	LCA	RDH12	Compound Heterozygous	c.582C>G, p.Y194X36
				c.805_809del, p.A269GfsX237
3784	LCA	RPE65	Compound Heterozygous	c.1205G>A, p.W402X4
				c.1022T>C, p.L341S49
1259	LCA	SPATA7	Homozygous	c.322C>T, p.R108X9
1303	LCA	TULP1	Homozygous	c.1381C>G, p.L461V13
3670	LCA	TULP1	Homozygous	c.901C>T, p.Q301X50
3671	LCA	TULP1	Homozygous	c.901C>T, p.Q301X50

LCA, Leber congenital amaurosis; RP, retinitis pigmentosa.