Table 3 of
Millá, Mol Vis 2013; 19:1707-1722. Table 3 of
Millá, Mol Vis 2013; 19:1707-1722.
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| ICO-4 | II:3* | Severe POAG | p.Gln368Stop (HT) | *Aggressive surgery More frequent examinations Withdrawn | Bad visual prognosis |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 |