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

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