Table 2.
Summary of clinical features of affected family members with Axenfeld-Rieger syndrome.
| Affected family members |
III-1 |
III-3 |
III-7 |
IV-2 |
V-1 |
|
|---|---|---|---|---|---|---|
| Current age (years old) |
49 |
48 |
38 |
29 |
6 |
|
| Onset age (years old) |
29 |
7 |
35 |
28 |
6 |
|
| Gender | F | F | M | F | F | |
| Clinical Features | ||||||
| Eye | Iris hypoplasia | + | + | + | + | + |
| Polycoria | − | + | + | − | − | |
| Corectopia | + | + | + | − | + | |
| Shallow anterior chamber | − | − | − | − | − | |
| Iridocorneal tissue adhesions | + | + | + | + | − | |
| Posterior embryotoxon | + | + | + | + | + | |
| Secondary Glaucoma | + | + | + | + | − | |
| Craniofacial Region | Flattened midface | + | + | + | + | + |
| Teeth | Hypodontia, conical teeth | + | + | + | + | + |
| Abdomen | Redundant periumbilical skin | − | − | + | − | − |
| Hearing | Hearing loss | − | − | − | − | − |
| Cardiovascular Abnormal | Cardiovascular outflow tract malformation | − | − | − | − | − |
| Pituitary abnormalities | Developmental delays | − | − | − | − | − |