Table 10.

Distribution of genetic mutations in the 23 patients across disease groups

Disease	Gene mutations
	CHED (n=6 patients), n (%)	PA (n=11 patients), n (%)	PCG (n=6 patients), n (%)
	Mutations present
	6 (100)	4 (36.4)	5 (83.3)
	Gene	Mutation	Type of PA
	CHED	SLC4A11	pR755Q,3214565<T splice variant
CHED	SLC4A11	c.2606+1G>A
CHED	SLC4A11	c.1979−2A>C
CHED	SLC4A11	pR755Q
CHED	SLC4A11	c.800G>A
CHED	SLC4A11	3209483C.T splice variant
PA	CYP1B1	c.1360_1361insGATG	Type 3 PA
PA	FOXC1	G(?_393153)_(1612107_?DEL)	Type 3 PA
PA	CYP1B1	c.1063C>T	Type 3 PA
PA	Chromosome 6:g.(?_393153_(3227543_?) del		Type 3 PA
PA	No mutation		Type 3 PA
PA	No mutation		Type 1 PA
PA	No mutation		Type 1 PA
PA	No mutation		Type 1 PA
PA	No mutation		Type 1 PA
PA	No mutation		Type 1 PA
PA	No mutation		Type 2 PA
PCG	CPAMD8	c.3563C>T
PCG	CYP1B1	c.346_363del
PCG	CYP1B1	c.1103G>A
PCG	CYP1B1	c.349C>T
PCG	CYP1B1	c.1360_1361insGATG*
PCG	No mutation

*Novel mutation SLC4A11, CYP1B1, FOXC1, CPAMD8. SLC4A11=Solute carrier family 4 member 11, CYP1B1=Cytochrome P450 family 1 subfamily B member 1, FOXC1=Forkhead box C1, CPAMD8=C3 and PZP-like alpha-2-macroglobulin domain-containing protein 8, PCG=Primary congenital glaucoma, CHED=Congenital hereditary endothelial dystrophy, PA=Peters anomaly