Molecular Vision: Millá, Mol Vis 2013; 19:1707-1722. Table 5

Table 5. CYP1B1 mutations detected in the PCG and ARS families studied from EMEIGG.

Family No.	Patient No.	Phenotype	Mutation 1	Mutation 2	Treatment and prognosis
EMEIGG-10004	IV:1*	PCG	p.Trp57Stop	p.Ser464PhefsX12	One eye badly impaired treated with trabeculectomy and tube implantation, the other with moderate phenotype and good response to goniotomy and trabeculectomy
EMEIGG-12005	I:1	Normal	-	p.Leu277Stop	*Severe phenotype, one eye enucleated after repeated filtering surgeries and the other with advanced damage but IOP controlled medically
	I:2	Normal	p.Gly61Glu	-
	II:2*	PCG	p.Gly61Glu	p.Leu277Stop
	II:3	Normal	-	p.Leu277Stop
	III:1	Normal	-	p.Leu277Stop
	III:2	Normal	-	p.Leu277Stop
EMEIGG-12008	I:2	POAG	p.Ala179ArgfsX16	p.Arg368His	I:2, mild POAG phenotype II:1, one eye with severe phenotype (2 trabeculectomies) and the other moderate (2 trabeculectomies) II:2, OHT with initial damage at OCT with normal visual fields, medical treatment initiated
	II:1*	JOAG	p.Ala179ArgfsX16	p.Arg468_Ser476dup
	II:2	Normal	p.Arg368His	p.Arg468_Ser476dup
	II:3	Normal	-	p.Arg368His
	III:1	Normal	-	p.Arg468_Ser476dup
	III:2	Normal	-	p.Arg368His
	III:3	Normal	-	p.Arg468_Ser476dup
	III:4	Normal	-	p.Arg468_Ser476dup
EMEIGG-20004	I:1	Normal	-	-	*Unilateral PCG with severe damage treated with trabeculectomy and tube implantation
	I:2	Normal	-	p.Arg368His
	II:1	Normal	-	p.Arg368His
	II:2*	PCG	-	p.Arg368His
HCL-21	G-271*	POAG	p.Tyr81Asn	-	Severe bilateral damage treated with tube implantation but presence of neovascular glaucoma secondary to diabetic retinopathy