Molecular Vision: Suri, Mol Vis 2008; 14:2349-2356. Table 2

Table 2. Phenotypic features of POAG patients and genotypes of patients with identified mutations.

Patient	Gender	Age at diagnosis	Affected eye	IOP max (mm Hg) right/left	C/D ratio right/left	Juvenile/ late-onset	Inheritance (f/s)	CYP1B1 genotype		CYP1B1 haplotype¥	MYOC haplotype‡
Patient	Gender	Age at diagnosis	Affected eye	IOP max (mm Hg) right/left	C/D ratio right/left	Juvenile/ late-onset	Inheritance (f/s)	By PrASE/microarray	By sequencing	CYP1B1 haplotype¥	MYOC haplotype‡
JG-R-211	M	27	Bilateral	29/31	0.8/0.9	J	f	R390H/R390H	R390H/R390H	H2	H2
JG-L-221	F	37	Bilateral	28/34	0.85/0.95	J	f	G61E/G61E	G61E/G61E	H1	H2
JG-M-4	F	25	Bilateral	32/30	0.9/0.9	J	f	G61E/G61E	G61E/G61E	H1	H1/H2
LG-L-214	M	48	Bilateral	24/28	0.7/0.8	L	f	G61E/+	G61E/+	H1/H3	H2
JG-R-226	M	32	Bilateral	28/28	0.9/0.9	J	f	R368H/+	R368H/E229K	H1/H3	H1/H2
JG-B-5	M	17	Bilateral	22/29	0.3/0.4	J	?	R368H/+	R368H/+	H1	H1
LG-R-234	F	78	left	/34	/0.8	L	s	R368H/+	R368H/+	H1/H2	H2
Patients without identified mutation	33M/ 23F	51.9 (24.9 for JG/ 62.7 for LG)*	39 bilateral /11 right/ 6 left	29.1*	0.8/0.7*	16J/40L	39f/18s/6?

All data pertain to probands. The asterisk denotes average figures for patients without identifeid mutations. The sharp (hash mark) indicates haplotpes defined by nucleotides at SNP positions IVS1-13, c.142, c.355, c.1294, c.1347 and c.1358 (NM_000104.2); H1: -CCGGTA-; H2: -TGTCCA-; H3: -CCGCCA-. The double dagger (‡) indicates haplotypes defined by nucleotides at SNP positions c.-83, c.227 and IVS2+35 (NM_000261); H1: -GGG-; H2: -GGA-. In the table M=male; F=female; J=juvenile-onset POAG; L=late-onset POAG; f=familial; s=sporadic.