Table 3.
Bayesian likelihood for Stargardt disease.
| Presence of juvenile macula dystrophy | TRUE | FALSE | NOT REPORTED |
|---|---|---|---|
| Prior probability for Stargardt disease: | TRUE/FALSE | ||
| Case A: Clinical picture fits with Stargardt disease in a man 40 years | 0.95 | 0.05 | 0.95/0.05 |
| Case B: Other cause found for reduced vision in man 40 years | 0.01 | 0.99 | |
| Conditional probabilitya for Stargardt disease: | |||
| 1. An ABCA4 hypomorphic Asn1868Ile variant detected | 0.10* | 0.08** | |
| 2. A 2nd ABCA4 loss-of-function variant NOT detected | 0.20* | 0.99 | |
| 3. No ABCA4 variant reported (despite finding Asn1868Ile) | 0.10*/0.91 | ||
| Joint probability: | |||
| Case A | 0.019 | 0.004 | 0.095/0.046 |
| Case B | 0.0002 | 0.0784 | |
| Posterior probability: | |||
| Case A: 0.0190/(0.0190 + 0.0040) | 0.826 | 0.174 | |
| Case B: 0.0002/(0.0002 + 0.0784) | 0.003 | 0.997 | |
| Case if no report of Asn1868Ile (0.095/(0.095 + 0.046) | 0.67 | ||
aConditional probability data based on *Zernant et al. (see ref.’s) and **gnomAD (2 × minor allele frequency).