A re-evaluation of the RGS data with additional HPO terms, that is, “(HP:0007754) macular dystrophy,” led to the identification of a homozygous candidate variant in the IDH3A gene (ENST00000299518.7, c.802G>A, p.Gly268Arg) (OMIM:601149). The gene discussed is IDH3A; the disease is Macular dystrophy.