Table 2.
Clinical characteristics of affected members in the six Chinese Han families.
| Family ID | Inheritance patterns | Mutation | Individual ID | Gender | Age at | Lens | Axis length at last-time examination (OD/OS mm) | Other ocular abnormities | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Last examination | Cataract presentation | Cataract surgery | ||||||||
| CC1 | AD | CRYBB2: p.R188C | II:2 | F | 40 y | 15 y | 17 y | Pseudophakia OU | 30.22/30.93 | High myopia related fundus change OU |
| III:1 | F | 3 y | 5 m | 5 m | Total cataracts OU | 22.75/22.64 | - | |||
| III:3 (proband) | M | 8 y | 2 m | 2 m | Total cataracts OU | 23.68/22.97 | Sensory esotropia OD; Nystagmus OU | |||
| CC2 | AD | CRYBB2: p.R188C | II:2 | F | 31 y | 10 m | 10 m | Aphakia OU | 26.73/23.98 | Anisometropia OU; Sensory esotropia OD; High myopia related fundus change OD; Nystagmus OU |
| III:2 (proband) | M | 5 y | 4 m | 4 m | Total cataracts OU | 20.47/19.82 | - | |||
| III:3 | F | 3 y 5 m | 3 m | 4 m | Total cataracts OU | 18.5/18.42 | Concomitant exotropia OS | |||
| CC3 | AD | CRYBB2: p.R188C | II:1 | M | 33 y | <1 y | <1 y | Aphakia OU | 27.28/NA | Retinal detachment OS |
| III:1 (proband) | F | 3 y 3 m | 3 m | 3 m | Total cataracts OU | 22.61/23.09 | Primary iris cysts OU | |||
| CC4 | AD | GJA8: p.G22R | II:2 | F | 27 y | <1 y | <1 y | Pseudophakia OU | NA/NA | - |
| III:1 (proband) | M | 4 m | 4 m | 4 m | Y-sutural with fetal nuclear cataracts OU | 22.90/23.30 | - | |||
| CC5 | AD | GJA8: p.143_147delLEGTL | II:2 | F | 32 y | <1 y | 23 y | Pseudophakia OU | 27.84/27.34 | High myopia related fundus change OU |
| II:4 | F | 29 y | <1 y | 15 y | Pseudophakia OU | 27.21/25.07 | High myopia related fundus change OU | |||
| II:7 | M | 23 y | 6 m | 3 y | Pseudophakia OU | 22.77/22.98 | Sensory esotropia OS; nystagmus OU | |||
| III:1 (proband) | M | 6 y | 2 y 3 m | 2 y 3 m | Y-sutural (dense shape) with embryonal nuclear opacities OU | 23.25/22.99 | Nystagmus OU | |||
| III:2 | F | 10 y | 2 y 9 m | 5 y 10 m | Y-sutural (faint shape) with embryonal nuclear opacities OU | 21.21/21.34 | - | |||
| III:3 | F | 5 y 3 m | 10 m | 10 m | Y-sutural (feathery shape) with embryonal nuclear opacities OU | 25.22/25.98 | High myopia related fundus change OU; Nystagmus OU | |||
| CC6 | AD | CHMP4B: p.S196C | II:1 | M | 33 y | <1 y | <1 y | Pseudophakia OU | NA/NA | - |
| III:1 (proband) | F | 2 y 4 m | 2 y 4 m | 2 y 4 m | Anterior subcapsular cataracts OU | 19.80/20.05 | Concomitant esotropia OU; Posterior synechia of iris OU; Nystagmus OU | |||
AD, autosomal dominant inheritance; M, male; F, female; y, years; m, months; OU, both eyes; OD, the right eye; OS, the left eye; NA, not available.