PMC9198712_01
Phenotype, pedigree, and Sanger sequencing results. (A) Cataract phenotype and pupils with irregular borders of the proband were shown. (B) The pedigree of a congenital cataract trios family. (C) c.394delG variant in CRYGC gene.
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F1
An ophthalmological exam revealed bilateral phacoscotasmus (C5), shallow anterior chamber, persistent pupillary membrane, invisible fundus, and nystagmus (Figure 1A).