Research Article
A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family
Table 1
Clinical information about three members in the family.
| ID | Age/gender | Relationship | Type of cataract | Onset age (months) | Surgery age (year) | Visual acuity | Mutation | Mutation type | OD | OS |
| III:5 | 26/F | Proband | ADCC | Since birth | 9 (left eye) | 0.08 | 0.02 | c.499T<G p.E167X | Het | III:6 | 44/M | Proband’ husband | Normal | Normal | Normal | 1.0 | 1.0 | — | — | IV:1 | 8/M | Proband’ son | ADCC | Since birth | 2 (both eyes) | 0.1 | 0.01 | c.499T<G p.E167X | Het |
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