TABLE 2.
Diagnostic yield of genetic testing by clinical diagnosis
| Clinical diagnosis | Number diagnosed | Genetically confirmed | Detection rate (%) |
|---|---|---|---|
| Usher syndrome | 320 | 264 | 82.5 |
| Other syndromic retinal dystrophy | 97 | 81 | 83.5 |
| Vitreoretinopathy | 103 | 78 | 75.7 |
| Choroidal dystrophy | 93 | 55 | 59.1 |
| Rod/rod‐cone dystrophy | 3,048 | 1,787 | 58.6 |
| Macular dystrophy | 1,452 | 837 | 57.6 |
| Cone/cone‐rod dystrophy | 670 | 333 | 49.7 |
| Overall | 5,783 | 3,435 | 59.4 |
| Other, not grouped, or unknown | 96 | 38 | 39.6 |
| Total | 5,879 | 3,473 | 59.1 |
Note: The detection rate, by clinical diagnosis, for the first 5,879 cases submitted to the My Retina Tracker genetic testing programs. Other syndromic retinal dystrophies are represented by Bardet Biedl Syndrome (42 patients), Gyrate Atrophy (8 patients), Joubert syndrome (2) and various other single case or unclassified syndromes. Vitreoretinopathies were represented by Retinoschisis (91 patients), Stickler (4), FEVR (3), Unspecified Vitreoretinopathy (3), Norrie Disease (1) and Wagner Disease (1).