DIAPH1 and Cerebral visual impairment: Whole exome sequencing (Illumina NovaSeq6000 platform; 100 bp reading length; paired-end sequencing) of peripheral blood DNA was requested, revealing a homozygous c.3145C > T variant in the DIAPH1 gene, reportedly associated with seizures, cortical blindness, and microcephaly (Table 2).