Molecular Vision: Yamada, Mol Vis 2009; 15:974-979. Table 2

Table 2. Previous reports of double mutations associated with corneal dystrophy.

Case	Amino acid mutation	Hetero- or homozygote	Gene	Mode of inheritance	Phenotype of single mutation	Phenotype of double mutation	Reference
1	Q118X	Homozygote	M1S1	AR	GDLD	GDLD	[16]
1	P501T	Heterozygote	TGFBI	AD	LCD	GDLD	[16]
2	Q118X	Heterozygote	M1S1	AR	GDLD	GDLD	[17]
2	Y184C	Heterozygote	M1S1	Not identified	Not identified	GDLD	[17]
3	Q118X	Heterozygote	M1S1	AR	GDLD	GDLD	[18]
3	L186P	Heterozygote	M1S1	AR	GDLD	GDLD	[18]
4	A546D	Heterozygote	TGFBI	AD	Polymorphic corneal amyloidosis or LCD	LCD	[19],[20]
4	P551Q	Heterozygote	TGFBI	Not identified	Not identified	LCD	[19],[20]
5	R124L	Heterozygote	TGFBI	AD	GCD	GCD	[21]
5	DeltaT125-DeltaE126	Heterozygote	TGFBI	Not identified	Not identified	GCD	[21]
Present case	R124H	Heterozygote	TGFBI	AD	ACD	ACD+LCD	Present study
Present case	N544S	Heterozygote	TGFBI	AD	LCD	ACD+LCD	Present study