Table 2.
Type of Mutational Class | Presence of Retinal Angiomatosis (in at least one eye) | |||
---|---|---|---|---|
Yes | No | Total | Prevalence of Retinal Angiomatosis* | |
Amino-acid Substitution | 159 | 259 | 418 | 38.0% |
Protein Truncation | 142 | 212 | 354 | 40.1% |
Complete Deletion | 9 | 53 | 62 | 14.5%** |
Total | 310 | 524 | 834 | 37.1% |
Comparison | Odds ratio (95% confidence limits) for rate of RCH present vs. RCH absent ** | P value |
---|---|---|
Amino-acid substitution vs. Protein Truncation | 1.01(0.67-1.54) | 0.9453 |
Amino-acid substitution vs. Complete deletion | 5.85 (2.51-13.65) | <.0001 |
Protein Truncation vs. Complete deletion | 5.77 (2.45-13.59) | <.0001 |
Calculated as number of patients with retinal angiomatosis divided by total number of patients in each subset.
Analyses were adjusted for age, gender, and familial relationships.