Table 2.
Diagnostic yields for the clinical subtypes of this study.
| Clinical diagnosis |
Cases (n) |
Genetic diagnosis (n) |
Unsolved cases (n) |
Clinical reassessment (final diagnosis) |
Diagnostic yield (%) |
|---|---|---|---|---|---|
| BMD | 4 | 4 | — | 100 | |
| LCA | 5 | 4 | 1 | 80 | |
| STGD | 14 | 11 | 3 | 78.5 | |
| RP | 45 | 27 | 18 | 2 (USH) | 60.0 |
| USH | 3 | 3 | — | 100 | |
| nd IRD | 17 | 3 | 14 | 3 (ACHM, LCA, STGD) | 17.6 |
| Total | 88 | 52 | 36 | 5 | 59.1 |
BMD: Best Macular Dystrophy; LCA: Leber Congenital Amaurosis; STGD: Stargardt Disease; RP: Retinitis Pigmentosa; USH: Usher Syndrome; nd IRD: inherited retinal degeneration not otherwise specified without precisely defined diagnosis; ACHM: Achromatopsia.