Table 1. Patient demographics and pCLE procedure characteristics.
| Characteristic | Value |
|---|---|
| Age in years, median (IQR) | 47 (37.5, 61.25) |
| Sex (%) | |
| Male | 9 (25) |
| Female | 27 (75) |
| Race (%) | |
| Caucasian | 34 (94) |
| African American | 1 (3) |
| Hispanic | 1 (3) |
| Procedure time (minutes), median (IQR) | 52.5 (44, 64.5) |
| pCLE biopsies per patient, median (IQR) | 7.5 (6, 9) |
| Cambridge method biopsies per patient (IQR) | 30 (30, 30) |
| Patients with targeted WLE biopsies (%) | 19 (52.8) |
| CDH1 Variant | |
| Pathogenic (%) | 25 (69) |
| Likely pathogenic (%) | 11 (31) |
| Nonsense (%) | 9 (25) |
| c.172G>T | 3 (8) |
| c.1792C>T | 2 (6) |
| c.2064_2065del | 3 (9) |
| c.2064_2065delTG | 1 (3) |
| Frameshift (%) | 8 (22) |
| c.603delT | 2 (6) |
| c.1145del | 1 (3) |
| c.1460_1461delTG | 1 (3) |
| c.1779dupC | 1 (3) |
| c.1982delG | 1 (3) |
| c.2430del | 1 (3) |
| c.720delT | 1 (3) |
| Cryptic splice (%) | 7 (19) |
| c.2195G>A | 5 (14) |
| c.715G>A | 2 (6) |
| Canonical splice (%) | 5 (14) |
| c.1565+1G>T | 2 (6) |
| c.1565+1G>C | 1 (3) |
| c.49-2A>C | 1 (3) |
| c.833-2A>G | 1 (3) |
| Intronic splicing (%) | 4 (11) |
| c.2439+5_2439+8delGTAA | 3 (8) |
| c.532-1G>C | 1 (3) |
| Deletion (%) | 3 (8) |
| Deletion exon 3 | 2 (6) |
| Deletion exons 1–2 | 1 (3) |