TABLE 3.
Clinical information for TEK-mutated patients.
| Family ID | Patient ID | Amino acid change | Sex | Age at onset | Eyes | Preoperative IOP (mmHg) | Cornea clouding | Corneal diameter (mm) | Cup–disc ratio | Treatment |
|---|---|---|---|---|---|---|---|---|---|---|
| 01 | C-9 | p.R1003H | M | Birth | OD | 20.6 | No | 12 | 0.5 | Loss to follow-up |
| OS | 20.6 | Haab’s striae | 13 | 0.7 | ||||||
| 02 | C-56 | p.M131I | M | 2y | OD | 20.6 | Macula | 13 | 0.4 | 1 trabeculotomy |
| 03 | C-39 | p.L504P | M | 2y | OD | 31 | Clear | 14.5 | 0.4 | 1 trabecolotomy in both eyes |
| OS | 48.5 | Yes | 16.5 | 0.9 | ||||||
| 04 | C-64 | p.M228V | F | 3 m | OD | 34 | Yes | 14.5 | 0.9 | Initial trabeculotomy and loss to follow-up |
| OS | 25 | Yes | 14.5 | 0.8 | ||||||
| 05 | C-99 | p.L888P | M | 2y | OD | 50.62 | Haab’s striae | 14 | 0.8 | 2 trabeculotomies in both eyes |
| OS | 54.66 | Haab’s striae | 13 | 0.8 | ||||||
| 06 | C-151 | p.H52R | F | Birth | OD | – | – | – | – | 1 trabeculotomy and 1 trabecolectomy in both eyes |
| OS | – | – | – | – | With subsequent tube shunt and enucleation of the left eye | |||||
| 07 | C-165 | p.P244S | M | Birth | OS | 28 | – | 13.5 | 1.0 | 1 trabeculotomy |
| 08 | C-270 | p.A841V | M | 2 m | OS | 42 | Yes | 13 | 1.0 | 1 trabeculotomy |
| 09 | C-290 | p.H494Y | M | 1y | OS | 45 | Yes | 13 | 1.0 | 2 trabeculotomies |
| 10 | C-350 | p.C264F | F | 1y | OD | 28 | Haab’s striae | 13.5 | 1.0 | 1 trabeculotomy in both eyes |
| OS | 30.4 | Haab’s striae | 13.5 | 1.0 | ||||||
| 11 | C-354 | p.Y1024X | M | 4 m | OD | 31.8 | – | 13 | – | Initial trabeculotomy in both eyes and loss to follow-up |
| OS | 29 | – | 12.5 | – |
Sex: M, male; F, female. Age at onset: m, month; y, year. Eyes: OD, right eye; OS, left eye.