Journal of Ophthalmology / 2016 / Article / Tab 1

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.

IDAge/genderRelationshipType of cataractOnset age (months)Surgery age (year)Visual acuityMutationMutation type
ODOS

III:526/FProbandADCCSince birth9 (left eye)0.080.02c.499T<G p.E167XHet
III:644/MProband’ husbandNormalNormalNormal1.01.0
IV:18/MProband’ sonADCCSince birth2 (both eyes)0.10.01c.499T<G p.E167XHet

Article of the Year Award: Outstanding research contributions of 2020, as selected by our Chief Editors. Read the winning articles.