Table 1 of Tanwar, Mol Vis 2010; 16:1996-2006.


Table 1. Clinical phenotype and CYP1B1 mutation status of PCG cases.


Pt. ID
Age of onset of disease
Sex
Age at presentation/Sampling Corneal Diameter (mm) OS/OD
Buphthalmos
IOP OS IOP OD Haabs’ striae Last Cup Disc ratio OS/OD Corneal edema
Mutations

Treatments
PCG01 By birth M 12 years 15x15/15x15.5 OU 40 30 OU Total cupping OU R390H (H) Medical and OU 3XTrab/Trab+MMC
PCG02 By birth F 10 years 13x13/13x13 OU 36 40 OU 0.5:1/0.6:1 OU R390H (H) Medical and OU 1XTrab/Trab+MMC
PCG03 By birth F 7 months 15x14/15x15 OU; OD>OS 26 38 Absent Hazy MEDIA Absent R390H (H) Medical and OU 1XTrab/Trab+MMC; OS 1XTrab/Trab+MMC
PCG04 By birth M 10 months 12x11/12x12 Absent 22 24 Absent 0.4:1/0.4:1 Absent Medical and OU Trab/Trab+MMC
PCG05 4 months M 5 months 14.5x15/15x15 OU; OD>OS 28 28 OU 0.7:1/0.7:1 OU R368H (H) Medical and OU 2XTrab/Trab+MMC
PCG06 By birth M 4 months 12x13/12x13 OU 22 23 OU 0.5:1/0.5:1 OU Medical and OU Trab/Trab+MMC
PCG07 By birth F 18 months 12x13/11x11.5 OS 38 14 Absent 0.4:1/0.4:1 Absent Medical and OU Trab/Trab+MMC
PCG08 1 month F
NA OD 23 25 Absent Hazy media One eye Medical and OD Trab/Trab+MMC
PCG09 2 months
13 months 12x12/12x12 Absent 22 22 Absent NA Absent Medical and OU Trab/Trab+MMC
PCG010 1 month F 1 month NA OD 23 24 Absent NA One eye Medical and OD Trab/Trab+MMC
PCG011 1 year M 4 months 14x14/14x15 OU; OD>OS 26 22 Absent NA Absent E229K (h) Medical and OU 1XTrab/Trab+MMC
PCG012 By birth M 58 months 14x14.5/14x14.4 OU 32 32 Absent NA Absent R368H (h) Medical and OU 1XTrab/Trab+MMC
PCG013 By birth F 2 months 14x14/14x14 OU 31 30 Absent Hazy media Absent R390H (H) Medical and OU 2XTrab/Trab+MMC
PCG014 By birth F 1 month NA OU 25 24 Absent Hazy media Absent E229K (h) Medical and OU 2XTrab/Trab+MMC
PCG015 By birth M 3 months 14.5x14/13.5x13 OU; OS>ODR 32 32 Absent 0.6:1/0.6:1 Absent M132R (H) Medical and OU 2XTrab/Trab+MMC
PCG016 By birth M 6 months 11x11/12x12.5 OD 18 26 Absent 0.4:1/0.5:1 Absent Medical and OD Trab/Trab+MMC
PCG017 By birth M 9 months 14x14/14x14.5 OU 30 28 Absent NA Absent Ter@223 (H) Medical and OU 2XTrab/Trab+MMC
PCG018 By birth M 3.4 years 14.5x14/14x14 OU; OS>OD 20 20 Absent NA Absent Medical and OU Trab/Trab+MMC
PCG019 By birth F 7 months 12x12.5/12x12 OU 22 22 Absent 0.5:1 1 Absent Ter@223 (h) Medical and OU 2XTrab/Trab+MMC
PCG020 By birth M 7 years 12x13/13x13 OU; OD>OS 18 37 Absent Hazy media Absent Medical and OU1X Trab/Trab+MMC
PCG021 By birth M 2 years 15x16/11.5x12 OS 32 15 OU Hazy media Absent Ter@223 (h) Medical and 2X Trab/Trab+MMC OS
PCG022 By birth F 10 months 15x15/16x16 OU; OD>OS 28 28 OU 0.7:1/0.5:1 Absent p.L24R (H) Medical and OS 2XTrab/Trab+MMC
PCG023 By birth F 4 months 14x15/14x15 OU 34 36 OU Hazy media OU Medical and OU 1X Trab/Trab+MMC
PCG024 By birth M 1 months 14x13/14x13 OU 30 24 Absent 0.7:1/0.7:1 OU Medical and OU 1X Trab/Trab+MMC
PCG025 By birth F 18 years NA Absent 32 10 Absent NA Absent Medical and OS Trab/Trab+MMC
PCG026 By birth M 2 years 14x15/14x15 OU 22 22 Absent Hazy media OU Medical and OU Trab/Trab+MMC
PCG027 By birth F 2 years 13x13.5/15x14.5 OU; 22 22 Absent 0.8:1/0.8:1 Absent Medical and OU 1X Trab/Trab+MMC
PCG028 By birth M 2.5 years 13x13.5/13x13.5 OU 20 20 Absent hazy media One eye Medical and OU 1X Trab/Trab+MMC
PCG029 By birth F 3 months 15x15/14x14 OU 28 27 OU Hazy media OU Ter@223 (h) Medical and 2X Trab/Trab+MMC
PCG030 By birth M 1 month 13x13.5/13.5x13 OU 26 26 Absent 0.7:1/0.7:1 One eye Medical and 1X OU Trab/Trab+MMC
PCG031 By birth M 4 months 11x14/14x15 OU 34 36 Absent Hazy media Absent Medical and 1X OU Trab/Trab+MMC
PCG032 By birth M 10 months 15x15/12x12 OS 18 14 Absent 0.3:1/0.3:1 Absent Medical and 1X OS Trab/Trab+MMC
PCG033 By birth M 1 year 13x13/11x11 OS 12 12 Absent 0.2:1/NO glow One eye Medical and 1X OS Trab/Trab+MMC
PCG034 By birth M 2 months 14x14/14x14 OU 22 24 Absent NA Absent R390H (h); Ter@223 (h Medical and 1X OU Trab/Trab+MMC
PCG035 By birth M 3 months 13x13/13x12 OS 18 16 Absent no glow Absent Medical and 1X OS Trab/Trab+MMC
PCG036 By birth M 1 month 15x15/15x15.5 OU 25 26 Absent 0.8:1 1 Absent R390H (H); E229K (h) Medical and 1X OD Trab/Trab+MMC
PCG037 By birth M 1 month 14x14/11x11 OU;OS>OD 18 22 Absent Hazy media One eye Medical and 1X OU Trab/Trab+MMC
PCG038 By birth M 3.5 years corneal: Dulcer/14x14 OD 18 20 Absent hazy media OU Medical and 1X OD Trab/Trab+MMC
PCG039 By birth M 4.5 years 13x13/12x13.5 OU 36 34 Absent NT cupping OU R368H (h); Ter@223 (h) Medical and 1X OUTrab/Trab+MMC
PCG040 By birth F 2 months 11.5x12.5/12x13 OU; OD>OS 23 23 Absent Hazy media OU Ter@223 (h) Medical and OD 1XTrab/Trab+MMC
PCG041 By birth M 11 months 12x10/12x12.5 OU; OD>OS 40 26 Absent Hazy media OU R390H (H): Ter@223 (h) Medical and OU 1XTrab/Trab+MMC;
1XTrab+Trab+mmc OD, 1XPK
PCG042 By birth M 5 days 13x13/13x13 OU 22 24 Absent Hazy media OU R368H (H) F190L (H) Medical and 1XTrab/Trab+MMC OU
PCG043 By birth F I2 months 12x12/12x12 OU 22 26 OU 0.8:1 1 Absent R390H (h) G329D (h) Medical and 1X OU Trab/Trab+MMC
PCG044 By birth M 4 years 14x14/14x14 OU 26 24 Absent 0.8:1/0.9:1 Absent Ter@223(h) Medical and 1X OU Trab/Trab+MMC
PCG045 By birth M 1 month 12x12/12x12.5 OU 20 22 Absent 0.5:1/0.5:1 Absent E229K (h), R390H (h) Medical and 1X OU Trab/Trab+MMC
PCG046 By birth M 6 months 13x13/13x13.5 OU 24 16 Absent 0.5:1/0.3:1 OU Medical and1X OU Trab/Trab+MMC
PCG047 By birth F 5 months 14.5x14/14x14 OU 30 20 Absent 0.7:1/0.9:1 One eye Medical and 1X OU Trab/Trab+MMC
PCG048 By birth M 11 months 13x13.5/12x13 OU 28 26 Absent NA Absent Medical and 1X OU Trab/Trab+MMC
PCG049 By birth M 6 months 18x20/14x16 OU 24 22 Absent OS no glow/0.5:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG050 By birth F
11x11.5/11x11.5 OU 26 30 Absent 0.3:1/0.3:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG051 By birth F 36 months 11x11.5/13x13 OU;OD>OS 22 28 Absent 0.8:1/0.9:1 OU Medical and 1X OU Trab/Trab+MMC;
OU cataract surgery
PCG052 By Birth F 2 months 12.5x13/12.5x13 OU 20 20 Absent Hazy media/0.5:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG053 By birth F 4 months 11.5x12/12x12 OU; OD>OS 40 23 Absent Hazy media OU Medical and 1X OU Trab/Trab+MMC
PCG054 By birth M 9 months 15x14.5/15x14.5 OU 26 26 Absent Absent glow Absent Medical and 1X OU Trab/Trab+MMC
PCG055 By birth M 8 months Phthisic eye/12x12 OD; OS Phthisic eye na 37 Absent NA/0.9:1 OU p.I94X (H) Medical and 1X OD Trab/Trab+MMC
PCG056 By birth F 12 months 14.5x14.5/14x14 OU; OS>OD 30 28 OU +ve Hazy media OU p.Q340H (H) + p.R390H (H) Medical and 1X OU Trab/Trab+MMC
PCG057 By birth M 3 months 13x13/13.5x13.5 OU; OD>OS 28 30 Absent 0.7:1/0.7:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG058 By birth M 15 months 14x14/12.5x12.5 OU; OS>OD 20 16 Absent total cupping/ 0.5:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG059 By birth F 10 months 14x14.5/13.5x14 OU; OS>OD 31 31 OS NA Absent Medical and 1X OU Trab/Trab+MMC
PCG060 7 months F 41 months 14x14/13x13.5 OU; OS>OD 24 18 Absent 0.4:1/0.6:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG061 By birth M 4 months 15.5x15/14x14 OU; OS>OD 30 34 OU Not visible/0.9:1 OU p.H279D (h) Medical and 1X OU Trab/Trab+MMC
PCG062 By birth M 8 months 11x11.5/10x11.5 OU; OS>OD 22 16 Absent 0.6:1/0.6:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG063 3 months M 12 months 12x12/11x12.5 OU; OS>OD 22 23 Absent 0.4:1/0.4:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG064 By birth M 1 month 12x12/11.5x11.5 OU; OS>OD 28 24 Absent not visible/0.7:1 Absent p.R390C (h) Medical and 1X OU Trab/Trab+MMC
PCG065 By birth M 6 months 13x13/12.5x13 OU; OS>OD 25 26 Absent 0.7:1/0.7:1 OU p.E229K (h) Medical and 1X OU Trab/Trab+MMC
PCG066 3 months M 13 months 12.5x12/12.5x12 OU 22 24 Absent 0.4:1/0.4:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG067 11 months M 132 months 12x13/13x14 OU; OD>OS 21 24 Absent not visible OU Medical and 1X OU Trab/Trab+MMC
PCG068 By birth M 6 months 13x13/13.5x14 OU; OD>OS 26 28 Absent 0.8:1/0.8:1 OU p.R368H (H) Medical and 1X OU Trab/Trab+MMC
PCG069 By birth M 4 months 13x13/12x13 OU; OS>OD 24 26 Absent 0.5:1/0.6:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG070 By birth M 45 days 15x15/15x14.5 OU/; OS>OD 30 40 Not visible not visible OU p.R355X (H) Medical and 1X OU Trab/Trab+MMC
PCG071 13 months M 18 months 12x12/12x12 OU 22 23 Absent 0.4:1/0.4:1 Absent Medical and 1X OU Trab/Trab+MMC
PCG072 By birth M 45 days 12x12/12x11.5 OU; OS>OD 20 24 Absent no glow OU Medical and 1X OU Trab/Trab+MMC
PCG073 By birth M 2 months 12.5x13/11x12 OU; OS>OD 22 22 Absent Hazy media OU Medical and 1X OU Trab/Trab+MMC
PCG074 By birth M 8 months 14x14.5/15x15 OU;OS>OD 28 24 OU No glow OU p.R368 (H) Medical and 1X OU Trab/Trab+MMC
PCG075 By birth M 1 year 13x13.5/14x14 0U; OD>OS 20 20 Absent No glow OU R390H (H) Medical and 1X OU Trab/Trab+MMC