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 | - |
Index patients are indicated by an asterisk. VA visual acuity; LP light perception; HM hand movements; RE right eye; LE left eye.