Table 1.
Clinical details of affected individuals
| Patient | Age (year) | Visual acuity | IOP (mmHg) | Ocular feature | Extraocular feature |
| I:2* | NA | NA | NA | OU: iris hypoplasia, corectopia, polycoria, peripheral anterior synechia | Midface abnormalities, dental abnormalities |
| II:1 | 62 | No light perception | NA | OU: ocular globe atrophy | Midface abnormalities, dental abnormalities |
| II:4 | 54 | 20/100 (OS) | 25 | OD: prosthetic eye; OS: iris hypoplasia, corectopia, polycoria, peripheral anterior synechia, cataract, corneal edema, sclerocornea, sclerocornea, pigment deposition on corneal endothelium, optic nerve atrophy | Midface abnormalities, dental abnormalities |
| II:6 | 50 | NA | NA | NA | Midface abnormalities, dental abnormalities |
| II:8 | 48 | 20/25 (OD); 20/25 (OS) | 17 (OD); 18 (OS) | OU: mild corectopia and iris hypoplasia | Midface abnormalities, dental abnormalities |
*
The data were according to the medical records of the patient before her death
OD: right eye; OS: left eye; OU: both eyes; IOP: intraocular pressure; NA: not available