It is predicted to cause a truncated or absent AIRE protein, while the c.481-1G>A variant in PDE6C leads to a canonical splicing site (-1) predicted to be deleterious (loss of acceptor site) by in silico tools .Homozygosity for the PDE6C variant was associated with cone dystrophy and homozygosity for the AIRE variant was associated with APS1. The gene discussed is PDE6C; the disease is cone dystrophy.