Table 2. Clinical findings in glaucoma patients in this the family.
| Subject | Sex/Age (years) | Highest IOP (mmHg) Observed (OD/OS) | Cup-disc ratio (OD/OS) | Visual acuity (OD/OS) | Trabeculodysgenesis |
Mutation |
SNPs |
|
|---|---|---|---|---|---|---|---|---|
| MYOC P370L | CYP1B1 R48G | CYP1B1 C>T | ||||||
| III:1 |
M/26 |
28/23 |
1.0/0.95 |
0.1/0.5 |
yes/yes |
het |
het |
het |
| III:2 |
M/22 |
25/44 |
1.0/1.0 |
NLP/NLP |
yes/yes |
het |
het |
het |
| II:1 |
M/41 |
52/NA |
1.0/inv |
NLP/NLP |
yes/inv |
het |
hom |
hom |
| II:3 |
F/44 |
NA/50 |
inv/inv |
NLP/NLP |
inv/inv |
het |
hom |
hom |
| II:4 |
F/39 |
53/57 |
inv/inv |
NLP/NLP |
yes/yes |
het |
het |
het |
| I:1 | M/71 | 34/30 | 1.0/1.0 | NLP/ FC | yes/yes | het | het | het |
The clinical information of the glaucoma patients in this pedigree were shown in this table, including gender, age, highest IOP, cup-disc ratio, visual acuity, trabeculodisgenesis and sequence variations found in MYOC and CYP1B1. In the table, abbreviations are: M, male; F, female; OD, right eye; OS, left eye; IOP, intraocular pressure; NLP, no light perception; FC, Figure counting; inv, invisible due to cornea opacification and/or cataract; het, heterozygous; hom, homozygous.