Table 3. MYOC mutations detected in the families studied.
| Family No. | Subject No. | Phenotype | MYOC mutation | Treatment | Prognosis |
|---|---|---|---|---|---|
| ICO-4 |
II:3* |
Severe POAG |
p.Gln368Stop (HT) |
*Aggressive surgery
More frequent examinations
Withdrawn |
Bad visual prognosis |
| III:1 |
Normal |
p.Gln368Stop (HT) |
|||
| III:2 |
OHT |
- |
|||
| ICO-24 |
II:1* |
NTG |
p.Ala427Thr (HT) |
*Filtering surgery |
Bad |
| ICO-29 |
II:2* |
Mild POAG |
p.Glu218Lys (HT) |
*Medical treatment |
Good |
| III:1 |
OHT |
p.Glu218Lys (HT) |
None |
Good |
|
| ICO-45 |
IV:1* |
JOAG |
p.Val426Phe (HT) |
*Filtering surgery |
Bad |
| EMEIGG-8008 |
II:3* |
POAG |
p.Thr293Lys (HT) |
*Medical treatment |
Good |
| EMEIGG-11002 |
II:1 |
POAG? |
p.Lys39Arg (HT) |
*Laser trabeculoplasty |
Bad |
| II:2* |
Unilateral POAG |
p.Lys39Arg (HT) |
|||
| II:3 |
POAG |
p.Lys39Arg (HT) |
|||
| III:1 |
Normal |
p.Lys39Arg (HT) |
|||
| III:2 |
Normal |
p.Lys39Arg (HT) |
|||
| III:3 |
Normal |
p.Lys39Arg (HT) |
|||
| III:4 |
Normal |
p.Lys39Arg (HT) |
|||
| IV:1 |
Normal |
- |
|||
| IV:2 |
Normal |
p.Lys39Arg (HT) |
|||
| IV:3 |
Normal |
p.Lys39Arg (HT) |
|||
| EMEIGG-12014 |
I:1 |
POAG |
p.Tyr479His (HT) |
*Filtering surgery |
Moderately impaired |
| II:1 |
Normal |
p.Tyr479His (HT) |
|||
| II:2 |
Normal |
p.Tyr479His (HT) |
|||
| EMEIGG-21007 |
21,007.1* |
Severe PCG |
p.Glu352Lys (HT) |
*Tube implant |
Bad |
| EMEIGG-23001 | 23,001.1* | POAG | p.Gln368Stop (HT) | *Medical treatment | Good but early onset |
* indicates index patient; 21,007 and 23,001: trees not shown