Novel compound heterozygous variants in <i>SIX6</i> cause a <i>PAX2</i> like Dysplastic Optic Disc with macular abnormalities without coexistent microphthalmia or cataract

Homozygous or compound heterozygous pathogenic variants in <i>SIX6</i> can cause a dysplastic optic disc and coexistent macular abnormalities. This dysplastic disc may be clinically indistinguishable from that seen in the <i>PAX2</i> related Papillo-renal syndrome. Careful optic disc evaluation of subtle disc dysplasia is critical in differentiating this extremely rare entity from other relatively common causes of isolated cone dystrophies or cone-rod dystrophies.