Chromosomal microarray testing was negative, and whole-exome sequencing revealed a single de novo pathogenic variant in the NR2F1 c.90_99del (p.Arg31Alafs*85) associated with Bosch–Boonstra–Schaaf Optic Atrophy Syndrome (BBSOAS), an autosomal dominant condition [18,19]. Here, NR2F1 is linked to Bosch-Boonstra-Schaaf optic atrophy syndrome.