Table 1 Clinical features of the affected individuals
Individual | Present age (years) | Cornea plana | Hazy corneal limbus | Irido-corneal synechi | Other eye abnormalities | Other systemic abnormalities |
|---|---|---|---|---|---|---|
III:10 | 40 | Yes | Yes | No | Corneal clouding has not decreased. Central corneal thinning, suspicion of posterior lenticonus | Hair loss in early adulthood |
III:11 | 39 | Yes | Yes | No | Corneal clouding decreased within the first year. Slight lenticonus | Hair loss in early adulthood |
IV:3 | 22 | Yes | Yes | Yes | Corneal clouding decreased within the first year. Small, eccentric malformed pupil (right) (Fig. 2a) | None |
IV:4 | 11 | Yes | Yes | Yes | Corneal clouding decreased within the first year. | Hair loss. Motor tics. Slight learning disability |
IV:5 | 11 | Yes | Yes | No | Corneal clouding decreased within the first year. | Slight learning disability. Soft cartilage, hypermobility. Motor tics |
IV:9 | 35 | Yes | No | No | Corneal clouding, anterior pole cataract, remnants of pupillary membrane | None |
V:1 | 6 | Yes | Yes | No | Corneal clouding decreased within the first year. Ectopia of pupils, left pupil irregular | None |
V:2 | 7 | Yes | No | Yes | Slight corneal clouding, decreased within the first year. Small, malformed and ectopic pupil (left) | None |