Table 4 of Millá, Mol Vis 2013; 19:1707-1722.

Table 4. CYP1B1 mutations detected in the PCG and ARS families studied from ICO.

Family No. Patient No. Phenotype Mutation 1 Mutation 2 Treatment and prognosis
ICO-3 I:1 Normal p.Arg355fsX69 - *Molteno tube implantation and cyclodestruction and severe visual impairment in one eye and good response to goniotomies and medical treatment in the other: both twins
I:2 Normal p.Arg355fsX69 p.Glu229Lys
II:1* Severe PCG p.Arg355fsX69 p.Arg355fsX69
II:2 Severe PCG p.Arg355fsX69 p.Arg355fsX69
ICO-12 I:1 Normal - p.Arg469Trp *Molteno tube implantation in both eyes during childhood
I:2 Normal p.Thr404fsX30 -
II:1* Severe PCG p.Thr404fsX30 p.Arg469Trp
II:2 Normal - p.Arg469Trp
ICO-18 III:2* POAG p.Tyr81Asn - *Severe Pseudoexfoliative glaucoma requiring filtration surgery in both eyes
III:5 PEX p.Tyr81Asn -
IV:1 OHT - -
IV:4 Normal p.Tyr81Asn -
ICO-19 G-41* Severe unilateral PCG p.Gly61Glu Not detected Conventional filtering surgery/ Vision badly impaired to finger counting in RE/ good response to goniotomy with normal VA LE
ICO-30 I:1 Normal p.Arg355fsX69 - Bilateral tube implantation, severe phenotype in both eyes
I:2 Normal - p.Thr404fsX30
II:1 Severe bilateral PCG p.Arg355fsX69 p.Thr404fsX30
ICO-39 G-74* JOAG p.Arg368His p.Thr404fsX30 Severe phenotype that required filtering surgery (trabeculectomy) in both eyes
ICO-47 I:1 Normal - 162-kb del(2p21.1) *Goniotomy and tube implantation bilaterally, severe phenotype
I:2 Normal - -
I:3 Normal p.Thr404fsX30 -
II:1 Normal - 162-kb del(2p21.1)
II:2 Normal p.Thr404fsX30 -
II:3 Normal - -
III:1* Severe PCG p.Thr404fsX30 162-kb del(2p21.1)
ICO-64 I:1 POAG - - *Mild phenotype under medical treatment
I:2* POAG p.Tyr81Asn -
II:2 Normal - -
ICO-65 I:1 ARS p.Ala443Gly -
II:1 ARS - -
ICO-84 III:1 Normal p.Glu229Lys - *Index patient with extremely severe phenotype in both eyes. One eye LP after repeated trabeculectomies and cyclodestruction and the other eye HM after trabeculectomy and tube implantation
IV:1 Normal p.Glu229Lys -
IV:3 Mild JOAG p.Glu229Lys p.Arg368His
IV:4* Severe PCG - p.Arg368His
IV:5 Severe PCG p.Asp449fsX6 p.Arg368His
V:1 Normal - -
V:2 Normal - -
V:3 Normal - -
V:4 Normal - p.Arg368His
V:5 Normal - p.Arg368His
V:6 Normal p.Glu229Lys -
V:7 Normal - p.Arg368His
ICO-96 G-166 ARS p.Glu229Lys -