Table 1.
Clinical information of 15 patients (probands) from 5 pedigrees and 10 sporadic subjects affected by GGCD I, ACD, LCD I/IIIA*
| Proband | Family history | Gender | Diagnosis | Age at diagnosis (year) | Keratoplasty/relapse |
| III2 (pedigree A) | Yes | Male | GGCD I | 19 | +/+ |
| III3 (pedigree B) | Yes | Male | GGCD I | 45 | +/+ |
| 3 (sporadic subject) | No | Female | GGCD I | 29 | −/− |
| 4 (sporadic subject) | No | Female | GGCD I | 23 | −/− |
| 5 (sporadic subject) | No | Male | GGCD I | 35 | −/− |
| I2 (pedigree C) | Yes | Female | GGCD I | 52 | −/− |
| 7 (sporadic subject) | No | Male | GGCD I | 36 | −/− |
| I1 (pedigree D) | Yes | Male | ACD | 62 | −/− |
| 9 (sporadic subject) | No | Male | ACD | 69 | −/− |
| 10 (sporadic subject) | No | Female | ACD | 33 | −/− |
| 11 (sporadic subject) | No | Female | LCD I | 24 | −/− |
| II2 (pedigree E) | Yes | Female | LCD I | 55 | +/+ |
| 13 (sporadic subject) | No | Female | LCD I | 26 | −/− |
| 14 (sporadic subject) | No | Female | LCD IIIA | 66 | −/− |
| 15 (sporadic subject) | No | Female | LCD IIIA | 71 | −/− |
*
The corneal phenotypes assessed by slit-lamp examination and the occurrence of keratoplasty and/or relapse of the CD are shown