Table 1 of Tanwar, Mol Vis 2009; 15:1200-1209.


Table 1. Details of all CYP1B1 mutations.

Patient
ID

Mutation
Corneal Diameter (mm)
OS/OD and clarity at diagnosis
IOP left/right
eye (mmHg)

Buphthalmos
Haabs’
Striae
Last Cup/
Disc ratio

Treatment
PCG 001 R390H (H) 15x15/15x15.5; OU total corneal scarring 40/38 OU No Total cupping Medical and 3XTrab/Trab OU
PCG 002 R390H (H) 13x13/13x13; OU corneal edema 36/40 OU No 0.5:1/0.6:! Medical and 1XTrab/Trab OU
PCG 003 R390H (H) 15x14/15x15; clear corneal 26/38 OU;R>L
Hazy cornea Medical and 1XTrab/Trab OU; 1XTrab/Trab OS
PCG 005 R368H (H) 14.5x15/15x15; OU corneal edema 28/28 OU;L>R No 0.7:1/0.7:1 Medical and 2XTrab/Trab OU
PCG 011 E229K (h) 14x14/14x15; clear cornea 26/22 OU NA NA Medical and 1XTrab/Trab OU
PCG 012 R368H (h) 14x14.5/14x14.4 32/32 OU OD
Medical and 1XTrab/Trab OU
PCG 013 R390H (H) 14X14/14X14 31/30 OU
Hazy media Medical and 2XTrab/Trab OU
PCG 014 E229K (h)
25/24 OU No Hazy media Medical and 2XTrab/Trab OU
PCG 015 M132R (H) 14.5X14/13.5X13 32/32 OU;L>R No 0.6:1OU Medical and 2XTrab/Trab OU
PCG 017 Ter@223 (H) 14X14/14X14.5 30/28 OU
NA Medical and 2XTrab/Trab OU
PCG019 Ter@223 (h) 12X12.5/12X12; Clear cornea 22/22 OU No 0.5:1 OU Medical and 2XTrab/Trab OU
PCG 021 Ter@223(h) 15x16/11.5x12; OS edema 32/15 OS OU Hazy media Medical and 2XTrab/Trab OS
PCG 029 Ter@223 (h) 15x15/14x14; OU edema 28/27 OU OU Haxy media Medical and 2XTrab/Trab OS
PCG 022 L24R (H)* 15x15/16x16 28/28 OU;R>L OU 0.7:1/0.5:1 Medical and 2XTrab/Trab OU
PCG 034 R390H (h) Ter@223 (h) 14x14/14x14 22/24 OD NA NA Medical and 1XTrab/Trab OD
PCG 036 R390H (H) E229K (h) 15X15 OU; Clear cornea 25/26 OU No 0.8:1 OU Medical and 1XTrab/Trab OD
PCG 039 R368H (h) Ter@223 (h) 13x13/12x13.5; OU edema 36/34 OU No Near total cupping Medical and 1XTrab/Trab OU
PCG 040 Ter@223 (h) 11.5x12.5/12x13; OU edema 23/23 OU No Hazy media Medical and 1XTrab/Trab OD
PCG 041 R390H (H) Ter@223 (h) 12x10/12x12.5; OU edema 40/26 OU;R>L No Hazy media Medical and 1XTrab/Trab OU
PCG 042 R368H (H) F190L (H)* 13x13/13x13; OU edema 22/24 OU No Hazy media Medical and 1XTrab/Trab OU
PCG 043 R390H (h) G329D (h)* 12x12/12x12 22/26 OU OU 0.8:1 OU Medical and 1XTrab/Trab OU
PCG 044 Ter@223(h) 14x14/14x14 26/24 OU No 0.8:1/0.9:1 Medical and 1XTrab/Trab OU
PCG 045 E229K (h), R390H (h) 12x12/12x12.5 20/22 OU No 0.5:1/0.5:1 Medical and 1XTrab/Trab OU