Table 3.
Inheritance Based on Family History and Genetic Testing
| Presumed Inheritance Based on Observation | Diagnostic Yield of Cases With Family History: Solved Cases/Total No. (% Solved) | Prevalence of RP Inheritance Patterns of Solved Cases/Total No. (% Solved) | |||
|---|---|---|---|---|---|
| AD-RP | 67/591 (11.3) | 49/67 (73.1) | AD-RP | 59/591 (10) | |
| AR-RP | 98/591 (16.6) | ||||
| XL-RP | 24/591 (4.1) | ||||
| US | 40/591 (6.8) | ||||
| AR-RP | 103/591 (17.4) | 64/103 (62.1) | |||
| XL-RP | 37/591 (6.3) | 21/37 (56.8) | |||
| US | 108/591 (18.3) | 40/108 (37) | |||
| Total | 315/591 (53.3) | Mean diagnostic yield 174/315 (55.2) | |||
| SP-RP | 276/591 (46.7) | Diagnostic yield of cases without family history: solved cases/total No. (% solved) | |||
| AD-RP | 10/276 (3.6) | ||||
| AR-RP | 30/276 (10.9) | Overall diagnostic yield 221/591 (37.4) | |||
| XL-RP | 2/276 (0.7) | ||||
| Total | 42/276 (15.2) | ||||
Diagnostic yield of cases with family history of retinal disorders is the fraction (percentage) of cases for which the inheritance based on genetic testing matched the inheritance presumed from observation. The overall diagnostic yield is the rate of solved cases in the whole population of 591 probands, therefore including sporadic cases.