Table 1.
Clinical data of the affected and unaffected members of the family
| Pedigree number | Phenotype | Sex | Age | IOP OD/OS | Age at diagnosis | Buphthalmos | Corneal diameter (in mm) | Corneal striae | C/D ratio OD/OS | BCVA OD/OS | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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| Vertical | Horizontal | OD | OS | |||||||||||
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| OD | OS | OD | OS | |||||||||||
| Affected family members | ||||||||||||||
| II6 | JOAG | F | 26 | 42/32 mmHg | 18 | Absent | – | – | – | – | – | –– | OA/0.9:1 | Pl-ve: HM+ve |
| III1 | PCG | F | 4 | 26.3/32.6 mmHg | 2.5 | Present | 13 | 14 | 14 | 14.5 | - | – | 0.7:1/0.75:1 | 6/60 : Pl+ve |
| III2 | PCG | M | 3 | 29/34.5 mmHg | 2 | Present | 16.5 | 16.5 | 17.0 | 17.0 | At 3 and 5:30 o’clock position | At 6 o’clock position | 0.9:1/0.9:1 | Pl+ve : Pl+ve |
| Unaffected family members | ||||||||||||||
| II5 | Normal | M | 29 | 14/17 mmHg | – | Absent | – | – | – | – | – | – | 0.3:1/0.4:1 | 6/6 : 6/6 |
| II7 | Normal | M | 30 | 13/15 mmHg | – | Absent | – | – | – | – | – | – | 0.3:1/0.3:1 | 6/12 : 6/6 |
| II9 | Normal | F | 34 | 15/16 mmHg | – | Absent | – | – | – | – | – | – | 0.3:1/0.35:1 | 6/6 : 6/18 |
BCVA, best corrected visual acuity; OD/OS, oculus dexter/oculus sinister