Table 1. Summary of age-corrected cognitive performance (in italics poor or impaired scores) and extraocular findings.
| R373C PROM1 mutation | Family A | Family B | ||||
|---|---|---|---|---|---|---|
| Subject | A-III:6 | A-IV:4 | A-IV:2 | A-V:1 | B-I:1 | B-II:1 |
| Relationship to proband | Maternal grandmother | Maternal aunt | Mother | Proband | Mother | Daughter |
| Age, years | 65 | 41 | 44 | 21 | 65 | 32 |
| VIQ | 114 | 90 | 96 | 110 | 106 | 110 |
| Verbal learning trials | 46 (50th) | 46 (25th) | 51 (50th) | 50 (25th) | 22 (<1st) | 56 (50th) |
| Verbal learning delay | 7 (25th) | 9 (10th) | 13 (75th) | 12 (50th) | 6 (10th) | 14 (75th) |
| Verbal recall immediate | 38 (75th) | 31 (25th) | 43 (90th) | 49 (90th) | 17 (10th) | 48 (90th) |
| Verbal recall % | 105 (90th) | 90 (50th) | 102 (90th) | 98 (90th) | 88 (50th) | 92 (50th) |
| Fluency phonemic ‘s' | 12 | 19 | 16 | 18 | 15 | 24 |
| Fluency animals | 19 | 15 | 26 | 24 | 20 | 28 |
| Hayling's total score | 14 | 16 | 13 | 18 | 11 | 17 |
| Cognitive estimates | 5 | 12 | 8 | 7 | 4 | 5 |
| Extraocular medical history | RI, M, MC | M | MH, RI, MC | SRA, MH, NE | Normal | M |
| MRI findings | WMH, EST | WMH, EST | EST | Normal | WMH | Normal |
| Vascular profiles | EX | NE | EX | EX | NE | NE |
| Endothelial function | EX | NE | EX | EX | NE | EX |
Abbreviations: EST, empty sella turcica; EX, examined; M, microsmia; MC, miscarriages; MH, microscopic haematuria; NE, not examined; RI, renal infections; SRA, steroid-resistant asthma; VIQ, verbal intelligence quotient; WMH, white matter hyperintensities.