Table 6.
Phenotype of PCG Patients with Non-Novel CYP1B1 Mutations
| Mutation | Hom/Cpd Het* | Fam/Sp† | Age of onset | Effected eye | C/D ratio‡ | Corneal opacity§ | Edema§ | Megalocor-nea§¶ | Haab’s striaie§∥ | IOP Max‡ (mm Hg) | Surgery (trabec-ulotomy) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| G61E | Hom;15 | 10/4/1 | 9:birth; 1:7 days; 2:6 months | 11:bilat; 1:R;1:L | 0.49 | 4:++;4:+;6:− | 8+;6- | All + | 10:+; 6:− | 29.1 | |
| G61E | Het(2nd mut R368H);3 | 1/2/0 | 2:birth; 1:3 years | 3:bilateral | 0.48 | 2:++;2:− | 2:+,2:− | 4:+;2:− | 6:+ | 23.2 | |
| G61E | Het(2nd mut R390H);4 | 0/4/0 | 3:birth; 1:3 years | 4:bilateral | 0.65 | All + | 2:+ | 30.0 | |||
| G61E | Het(2nd mut T404fs);1 | 1/0/0 | Birth | Bilateral | 0.30 | 1:++; 1:+ | 2:+ | 2:− | 22.0 | 2× | |
| G61E | Het(2nd mut P422R);1 | 0/1/0 | Birth | Bilateral | 2:+ | 1× | |||||
| G61E | Het(2nd mut R469W);2 | 2/0/0 | 1:2 months; 1:4 months | 2:bilateral | |||||||
| G61E | Het(2nd mut not found);1 | 0/1/0 | Birth | Right | 0.50 | 1:+ | 1:+ | 27.0 | 2× | ||
| E173K | Hom;2 | 1/1/0 | 1:birth;1:8 days | 1:bilat;1:R | 0.30 | 3:+ | 3:+ | 1:+;3:− | 24.0 | ||
| E299K | Hom;1 | 1/0/0 | Bilateral | 2:+ | 2:+ | 4:+ | 2:+ | 32.5 | |||
| R290fs | Hom;2 | 2/0/0 | 1 birth;1:7 months | ||||||||
| R368H | Hom;2 | 2/0/0 | 1:birth;1:2 years | 1:bilat;1:R | 0.87 | 2:+;2:− | 2:+;2:− | 3:+ | 2:− | 29.7 | |
| R368H | Het(2nd mut R390H);2 | 2/0/0 | 1:birth;1:4 months | 2:bilateral | 0.7 | 4:− | 4:− | 4:+ | 2:− | 24.8 | |
| R368H | Het(2nd mut not found);3 | 0/3/0 | 1:birth;1:4 months 1:1 year | 3:bilateral | 0.58 | 2:− | 2:− | 2:− | 2:+;4:− | 25.0 | |
| R390H | Hom;12 | 9/2/1 | 5:birth;1:6 days. 2:3–5 months | 12:bilat | 0.65 | 3++;6:+; 1:− | 7:+; 3:− | 16:+; 8:− | 6:+;4:− | 29.1 | |
| R390H | Het(2nd mut not found);1 | 0/1/0 | Birth | Bilateral | 27.0 | Multiple | |||||
| T404fs | Hom;1 | 1/0/0 | Birth | Bilateral | 0.70 | 1:++;1:− | 1:+;1:− | 2:+ | 2:− | 31.5 | 2× |
| R469W | Hom;7 | 6/0/1 | 2:birth; 1:2 months; 1:1 year | 7:bilateral | 0.60 | 2:++;1:+;4:− | 3:+;3:− | 8:+ | 4:+;4:− | 30.0 | |
| No CYP1B1 mut | 32 | 16/13/3 | 8:birth; 14:1–6 months; 4:7–12 months | 20:bilat; 2:R;4:L | 0.59 | 2:++;13:+;11:− | 15:+; 11:− | 41:+;5:− | 36:+; 18:− | 22.9 |
*
Number after semicolon indicates no. of patients; each heterozygote listed only once.
†
Familial/sporadic status of patients: no. familial/no. sporadic/no. unknown status.
‡
Average of all eyes.
§
Numbers indicate no. of eyes.
¶
Corneal diameter >12 mm.
∥
Indicative of rupture of Descemet’s membrane.