PMC9439885_01
Family history and genomic analysis. (a) Detailed family history. The daughter and son with congenital cataracts were homozygous mutations (c.1411C > T: p.R471*). The parents carried heterozygous mutations without any symptoms. (b) Evolutionary conservation of the altered amino acid residues. (c) Sanger sequencing of the mother's DNA. Mutation validation results showed that the sequence on the template chain: G was replaced by A. This is equivalent to C on the coding chain being replaced by T.
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fig1
The family consisted of two children with CC and their parents whose ocular presentations were normal (Figure 1(a)).
Ocular ultrasound images. (a) Vitreous bodies with mild opacity of the daughter. (b) Vitreous bodies with mild opacity of the son. The daughter's vitreous opacity was more pronounced and none of them found the lens.
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fig2
The vitreous bodies of the two children presented a mild opacity (Figure 2).